Identifying the Misshapen Head: Craniosynostosis and ... · CLINICAL REPORT Guidance for the...

CLINICAL REPORT Guidance for the Clinician in Rendering Pediatric Care

Identifying the Misshapen Head:Craniosynostosis and Related DisordersMark S. Dias, MD, FAAP, FAANS,a Thomas Samson, MD, FAAP,b Elias B. Rizk, MD, FAAP, FAANS,a

Lance S. Governale, MD, FAAP, FAANS,c Joan T. Richtsmeier, PhD,d SECTION ON NEUROLOGIC SURGERY, SECTION ON PLASTIC ANDRECONSTRUCTIVE SURGERY

abstractPediatric care providers, pediatricians, pediatric subspecialty physicians, andother health care providers should be able to recognize children withabnormal head shapes that occur as a result of both synostotic anddeformational processes. The purpose of this clinical report is to review thecharacteristic head shape changes, as well as secondary craniofacialcharacteristics, that occur in the setting of the various primarycraniosynostoses and deformations. As an introduction, the physiology andgenetics of skull growth as well as the pathophysiology underlyingcraniosynostosis are reviewed. This is followed by a description of each type ofprimary craniosynostosis (metopic, unicoronal, bicoronal, sagittal, lambdoid,and frontosphenoidal) and their resultant head shape changes, with anemphasis on differentiating conditions that require surgical correction fromthose (bathrocephaly, deformational plagiocephaly/brachycephaly, andneonatal intensive care unit-associated skill deformation, known asNICUcephaly) that do not. The report ends with a brief discussion ofmicrocephaly as it relates to craniosynostosis as well as fontanelle closure.The intent is to improve pediatric care providers’ recognition and timelyreferral for craniosynostosis and their differentiation of synostotic fromdeformational and other nonoperative head shape changes.

INTRODUCTION

Pediatric health care providers evaluate and care for children witha variety of head shapes, some of which represent craniosynostosis andother craniofacial disorders, some of which are deformational in nature,and some of which are simply normal variants. Identifying the varioustypes of head shape abnormalities is important for aesthetics, to identifycandidates for future monitoring, and, at least in some, to preventincreases in intracranial pressure (ICP) and allow proper braindevelopment. This report reviews several of the important head shapeabnormalities and normal variants that pediatric health care providers are

aSection of Pediatric Neurosurgery, Department of Neurosurgery andbDivision of Plastic Surgery, Department of Surgery, College ofMedicine and dDepartment of Anthropology, College of the Liberal Artsand Huck Institutes of the Life Sciences, Pennsylvania State University,State College, Pennsylvania; and cLillian S. Wells Department ofNeurosurgery, College of Medicine, University of Florida, Gainesville,Florida

Clinical reports from the American Academy of Pediatrics benefit fromexpertise and resources of liaisons and internal (AAP) and externalreviewers. However, clinical reports from the American Academy ofPediatrics may not reflect the views of the liaisons or theorganizations or government agencies that they represent.

The guidance in this report does not indicate an exclusive course oftreatment or serve as a standard of medical care. Variations, takinginto account individual circumstances, may be appropriate.

All clinical reports from the American Academy of Pediatricsautomatically expire 5 years after publication unless reaffirmed,revised, or retired at or before that time.

This document is copyrighted and is property of the AmericanAcademy of Pediatrics and its Board of Directors. All authors have filedconflict of interest statements with the American Academy ofPediatrics. Any conflicts have been resolved through a processapproved by the Board of Directors. The American Academy ofPediatrics has neither solicited nor accepted any commercialinvolvement in the development of the content of this publication.

DOI: https://doi.org/10.1542/peds.2020-015511

Address correspondence to Mark S. Dias, MD, FAAP, FAANS.E-mail: [email protected]

PEDIATRICS (ISSN Numbers: Print, 0031-4005; Online, 1098-4275).

Copyright © 2020 by the American Academy of Pediatrics

To cite: Dias MS, Rizk EB, et al. AAP SECTION ON NEUROLOGICSURGERY, SECTION ON PLASTIC AND RECONSTRUCTIVE SURGERY.Identifying the Misshapen Head: Craniosynostosis and RelatedDisorders. Pediatrics. 2020;146(3):e2020015511

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likely to see, describes their salientclinical and radiologic features, anddiscusses the optimal timing forreferral and surgical correction. Thereport begins with an overview of thenormal development of the skull andsutures and the pathophysiology ofcraniosynostosis.

NORMAL DEVELOPMENT OF THECALVARIUM AND MOLECULARDETERMINANTS OF CRANIOSYNOSTOSIS

The skull is a complex skeletal systemthat meets the dual needs ofprotecting the brain and othersensory organs while allowing itsongoing growth during development.The calvarial vault (Fig 1) iscomposed of paired frontal, parietal,and temporal bones and a singleoccipital bone. The paired frontalbones are separated from each otherby the midline metopic suture, andthe paired parietal bones areseparated from each other by themidline sagittal suture. The frontaland parietal bones are separated bythe paired coronal sutures, theparietal and temporal bones areseparated by the paired squamosalsutures, and the parietal and occipitalbones are separated by the pairedlambdoid sutures. There are alsoa number of sutures andsynchondroses involving the skullbase. The anterior fontanelle

(bregma) forms at the junction of thepaired frontal and parietal bones,whereas the posterior fontanelle (l)forms at the junction of the pairedparietal bones with the midlineoccipital bone.

The skull encompasses the skull base,calvarial vault, and pharyngealskeleton.1,2 The bones of the skullbase mineralize throughendochondral ossification involvingthe replacement of a fully formedcartilaginous anlagen with bonematrix. In contrast, the bones of thecalvarial vault form byintramembranous ossificationinvolving the mineralization of bonematrix from osteoblasts withouta cartilaginous intermediate.Craniosynostosis involves theabnormal mineralization of suture(s)and fusion of one or multiplecontiguous bones of the cranial vaultand can include additionalabnormalities of both the soft andhard tissues of the head.3 The role ofcartilage growth disturbance withinthe cranial base in craniosynostosis isstill a matter of debate.4–7

The bones of the cranial vault ossifydirectly from undifferentiatedmesenchyme.8,9 Differentiatingosteoblasts accumulate on the leadingedges of cranial vault bones as thebrain expands during prenatal andearly postnatal growth.

Undifferentiated cells between theseosteogenic bone fronts form thecranial vault sutures, which functionto keep the suture patent whileallowing rapid and continual boneformation at the edges of the bonefront until brain growth iscomplete.10 Sutures are fibrous“joints” that allow temporarydeformation of the skull duringparturition or trauma, inhibit boneseparation for the protection ofunderlying soft tissues, and, perhapsmost importantly, enable growthalong the edges of the 2 opposingbones until they ossify and fuse laterin life.10,11 Sutures normally remainunossified well into adolescence.When sutures mineralize (close)abnormally, growth is prevented atthe fused suture and is insteadredirected to other patent sutures,which, in turn, alters the shape of theskull in predictable ways.

Research has revealed multiplegenetic factors, involving severalmajor cellular signaling pathwayssuch as wingless and Int-1 (WNT),bone morphogenetic protein (BMP),fibroblast growth factor (FGR), andothers, that interact to direct thebehavior of particular subpopulationsof cells within the suture. Incraniosynostosis, these cells receiveand emit signals that stimulateosteogenic differentiation far earlierthan expected,12 resulting inmineralization and progressiveossification that unites the bones oneither side of the suture. Pathogenicvariants of fibroblast growth factorreceptors (FGFRs) are the mostcommon genetic variants associatedwith craniosynostosis.13–15 FGFRs aretranscription factors that initiate andregulate the transcription of multiplegenes throughout prenataldevelopment.16–21 Various mousemodels expressing FGFR pathogenicvariants have been developed anddemonstrate phenotypes analogousto the human craniosynostosissyndromes, including prematurecoronal suture closure and midface

FIGURE 1Three-dimensional CT scan showing (A) top and (B) side views of the skull bones with metopic (m),sagittal (s), coronal (c), lambdoid (l), and squamosal (sq) sutures, as well as the anterior fontanelle(af). Reproduced with permission from Governale LS. Craniosynostosis. Pediatr Neurol. 2015;53(5):394-401.

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flattening (retrusion).22–31 Pathogenicvariants in TWIST1 (twist family basicHelix-Loop-Helix transcription factor1) gene, another transcription factorassociated with craniosynostosis,32–34

directly affect BMP signaling of skullpreosteoblasts, leading to variationsin cerebral brain angiogenesis.35

These animal models as well asstudies of cellular behavior in humancraniosynostosis cell lines provide themeans to examine the structural,cellular, and molecular changes thatoccur during prenataldevelopment.36,37

THE EFFECT OF CRANIOSYNOSTOSIS ONICP AND DEVELOPMENT

Aesthetic consequences aside, thereare concerns that craniosynostosis, insome cases, affects brain growth andintellectual development. A recentsystematic review strongly suggeststhat craniosynostosis is associatedwith a higher risk for presurgicalneurocognitive deficits comparedwith the population unaffected bycraniosynostosis; these deficitspersist postoperatively, suggestingthat they may occur independent ofsurgical correction.38 Generalized IQis shifted downward with increasedlearning disabilities, language delays,and behavioral difficulties.39 At least4 mechanisms have been proposed:(1) globally elevated ICP, (2) globalbrain hypoperfusion, (3) localizedcompression and deformity, and (4)genetic predisposition. It has provendifficult to extract the exactcontributions of each factor, andstudies have provided conflictingdata. Moreover, many studies sufferfrom a variety of methodologic flaws,including the inclusion of severaltypes of craniosynostosis, varyingdefinitions of ICP elevations (and lackof normative data), the use ofdifferent neurocognitive testingstrategies, lack of randomization,inconsistent operative approaches,variations in operative timing, andsmall study cohorts, to name a few.

To what extent, if any, treatablecauses contribute to neurocognitivedeficits in craniosynostosis, andwhether prompt surgical treatmentcan improve neurobehavioraloutcomes, is a matter of debate.Elevated ICP is present in 4% to 42%of children with single-suturecraniosynostosis and approximately50% to 68% with multisuturalinvolvement40–44; the incidence ofintracranial hypertension is higheramong older untreatedindividuals.42,44 Elevated ICPcorrelates with developmental andcognitive outcomes in some studies40

but not others.39,45,46 Neither has theseverity of the deformity correlatedwith the presence of neurocognitivedeficits.39 A few studies havesuggested that earlier treatment ofcraniosynostosis may result in betterearly and late neurocognitiveoutcomes,45,47 but the majority havenot found such an association.12,48–50

Finally, genes involved incraniosynostosis syndromes haverecently been found to be involved inbrain development,51 and syndromiccraniosynostosis syndromes havingvirtually identical patterns of skullfusion may carry widely differentrisks for neurodevelopmental deficits(see below).

THE IMPACT OF SUTURAL SYNOSTOSISON DIRECTED CALVARIAL GROWTH

Single sutural synostosis results inpredictable changes in skull shape(Fig 2, Table 1). Persing et al52

proposed 4 rules that govern calvarialgrowth and predict the head shape incases of craniosynostosis. These rulesare based on the principle thatcalvarial growth occurs by osseousdeposition from calvarial bones lyingadjacent to each suture, and thisdeposition is oriented perpendicularto the intervening suture:

1. Bones that are fused as a result ofcraniosynostosis act asa “combined growth plate,” havingreduced growth potential at all ofthe margins of the plate;

2. Bone is, therefore, depositedasymmetrically, with greaterosseous deposition in the bonesopposite the perimeter sutures ofthe combined growth plate;

3. Non-perimeter sutures that are in-line with the combined bone platedeposit bone symmetrically attheir suture edges; and

4. Both perimeter and in-line(abutting) sutures nearest thecombined bone plate compensatewith greater osseous depositionthan more distant sutures.

To use sagittal synostosis as anexample, the fused parietal bones actas a single, combined growth platewith reduced growth perpendicularto the sagittal suture; acceleratedbone deposition occurs within thefrontal and occipital bones. Themetopic suture, as an abutting in-linesuture, deposits bone symmetricallyat an accelerated rate. The result is anelongated head (scaphocephaly) withparietal narrowing as well as frontaland occipital bossing. A similaranalysis predicts the head shape forthe other sutural synostoses (Fig 2).Multisutural synostosis can beappreciated as the combined effect offusion involving each of the individualcomponent sutures.

SCAPHOCEPHALY (SAGITTALSYNOSTOSIS), DOLICHOCEPHALY(NICUCEPHALY), AND BATHROCEPHALY

Sagittal synostosis is the mostcommon form of craniosynostosis,accounting for approximately 40% to45% of cases53–55 and havinga prevalence of 2 to 3.2 per 10 000live births.53,56,57 Sagittal synostosishas a distinct male predominance of2.5 to 3.8:1.53,55 Sagittal synostosisproduces scaphocephaly,characterized by both an elongatedhead and biparietal narrowing that isevident at birth. The head elongationis best appreciated by looking at theinfant from the side (Fig 3). Somepatients have an associated saddledeformity at the vertex, giving an

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overall “peanut” shape to the head.The second consistent abnormality isthe biparietal narrowing when lookedat from the front or from above.

Normally, the parietal bones projectstraight up or even bowed outwardfrom the temporal region. Biparietalnarrowing in sagittal synostosis

produces a “cone-head” or bullet-shaped head when viewed from thefront and a bicycle racing helmetshape when viewed from above

FIGURE 2Drawing showing the various head shape changes that occur with single-suture synostosis and deformational posterior plagiocephaly. Reproduced withpermission from the cover of the May 2016 issue of the Journal of Neurosurgery: Pediatrics. ©2016 American Association of Neurologic Surgeons. Artist:Stacey Krumholtz.


(Fig 3). Frontal or occipital bossing isa variable feature and tends toworsen as the infant ages. Physicalexamination also demonstratesa prominent midline interparietal, orsagittal, ridge that extends betweenthe anterior and posteriorfontanelles; the sagittal suture islonger, as measured from the anteriorto the posterior fontanelles. Partialsynostosis may cause an incompleteridge involving only a portion of thesuture. One may demonstrate thefusion of the 2 parietal bones byplacing a thumb on each of them nearthe midline and alternatinglydepressing each of them; there shouldbe no independent movement.

Sagittal synostosis produces anelongated head on lateral radiographs

and a bullet-shaped head on anterior-posterior (AP) radiographs (Fig 4Aand B). The normal sagittal suturetapers toward the midline on APradiographs; in sagittal synostosis,the fused sagittal suture may not bevisible, but, more commonly, itappears to have an abrupt, moresquared-off appearance (Fig 4B),paradoxically appearing to be openwhen, in fact, it is not. Computedtomography (CT) scans demonstratethe elongated head with biparietalnarrowing (Fig 4C); the fused sagittalsuture is best appreciated on coronalreconstructions by using bonealgorithms (Fig 4D); three-dimensional reconstructions areparticularly well suited todemonstrate the midline sagittalridge (Fig 4E) but may involve more

radiation exposure, particularly withthin slices.

It is important to distinguishscaphocephaly from dolichocephaly.Although these 2 terms have beenused interchangeably by many,dolichocephaly refers to an elongatedhead without associated biparietalnarrowing and is caused bypositioning. Dolichocephaly mostcommonly occurs in preterm infantsin the NICU: so-called NICUcephaly. Ofcourse, there is no midline sagittalridge as there is in sagittal synostosis,and, with the thumb maneuverdescribed above, the parietal boneswill move independently, oftenmaking the infant cry because thisappears to be painful.

Infants with frontal bossing fromhydrocephalus or chronic subduralhematomas or hygromas maygenerate confusion. However, theseinfants have neither an elongatedhead nor biparietal narrowing, andthey have no midline sagittal ridge.Metopic synostosis is readilydifferentiated from sagittal synostosisby the presence of a prominentmidline ridge that extends from thenasion to the anterior fontanelle,anterior to the sagittal suture, and isoften associated with a triangular orkeel-shaped forehead(trigonocephaly) with recession of thelateral orbits and narrow set eyes.

TABLE 1 Head Shapes Resulting From Craniosynostosis and Positional Deformations

Type Head Shape Name 1° Change 2° Change(s)

Sagittal Scaphocephaly Elongated AP distance Biparietal narrowing, frontal and/or occipital bossing, and occasional saddledeformity

NICUcephaly Dolichocephaly Elongated AP distance Lack of biparietal narrowing and frontal/occipital bossingMetopic Trigonocephaly Triangular forehead Bilateral orbital retrusion, bitemporal narrowing, and hypotelorismUnicoronal Plagiocephaly Trapezoid Flattened ipsilateral forehead, retruded and elevated ipsilateral orbit (Harlequin

eye), ipsilateral nasal root and contralateral nasal tip deviation, and anteriordisplacement of ipsilateral ear

Bicoronal Brachycephaly andturricephaly

Shortened AP distance; flat,tall, and wide forehead

Exorbitism if associated midface hypoplasia is present

Unilambdoid Plagiocephaly Trapezoid Bulge behind ipsilateral ear or mastoid and ear displaced posterior and inferiorBilambdoid Brachycephaly Shortened AP distance, flat

occiputBulge behind both ears or mastoid and both ears displaced posterior and inferior

Frontosphenoidal Plagiocephaly Trapezoid Retruded and depressed ipsilateral orbit and contralateral nasal root andipsilateral nasal tip deviation

DP Plagiocephaly Parallelogram Ipsilateral occiput, ear, and forehead all displaced anteriorlyDB Brachycephaly Shortened AP distance Flattened occiput with normal forehead and orbits

FIGURE 3Scaphocephaly attributable to sagittal synostosis. A, Lateral view shows elongated antero-posteriordimension with modest frontal bossing and saddle deformity at vertex. B, Frontal view in same childshows parietal bones that curve inward giving a conical head shape attributable to parietalnarrowing.


Bathrocephaly is another conditionthat can produce confusion.Bathrocephaly results in a prominentocciput that angles sharply inwardtoward the neck but without frontalbossing, biparietal narrowing, orsagittal ridging (Fig 5). Bathrocephalyis associated with a persistentmendosal suture, an embryonicsuture that extends transverselybetween the 2 lambdoid sutures and,normally, is gone by birth Fig 5C.58

Bathrocephaly does not requiretreatment.

Infants who have sagittal synostosisshould be referred to a specialist forrepair as early as possible becausesurgical correction is usuallyperformed much earlier (often at6–12 weeks of age) than for other

forms of synostosis. Surgicalmanagement options include bothopen and endoscopic repairs;adjunctive postoperative helmettherapy is recommended for up to1 year postoperatively, after morelimited endoscopic repairs.59,60 Theimportance of early recognition andreferral for surgical managementcannot be overemphasized becauseinfants treated after 6 to 10 monthsof age increasingly require moreextensive and morbid completecalvarial vault remodeling to achieveadequate correction.

TRIGONOCEPHALY (METOPICSYNOSTOSIS)

Metopic synostosis is presently thesecond most common form of

craniosynostosis, accounting for 19%to 28% of cases53–55 and havinga prevalence of 0.9 to 2.3 per 10 000live births.53,57 The prevalence ofmetopic synostosis may haveincreased over the past decades(without a corresponding increase inother synostoses) for uncertainreasons.54 Metopic synostosis alsohas a distinct male preponderance of1.8 to 2.8:1.53,55 Metopic synostosisproduces trigonocephaly withreduced growth potentialperpendicular to the metopic suture,a pronounced metopic ridge, andhypotelorism; the forehead formsa keel, similar to the prow of a boat,with bilateral orbital retrusion andbitemporal narrowing (Fig 5).Reduced bifrontal and acceleratedbiparietal growth along the coronal

FIGURE 4Radiologic features of sagittal synostosis. A, Lateral skull radiograph demonstrates an elongated head (sagittal suture is difficult to see from thisperspective). B, Anteroposterior skull radiograph shows conical head shape. Note that part of the sagittal suture appears fused (arrowhead), whereassome appears open with sharp borders and adjacent hyperdensities (arrows). The entire suture was fused at surgery. C, Axial CT scan shows elongatedhead shape with prominent frontal bossing and fused posterior sagittal suture (arrowhead). D, Coronal CT scan shows conical shape of head with fusionof the sagittal suture (arrowheads). E, Three-dimensional CT scan shows prominent midline ridged sagittal suture (arrowheads); both coronal andlambdoid sutures are patent.


sutures, with additional symmetricalgrowth along the in-line sagittalsuture, results in a widened, pear-shaped calvarium behind the coronalsuture (Fig 6B).

Some infants may display onlya palpable (and sometimes visible)metopic ridge with little or notrigonocephaly; whether thisrepresents a forme fruste ofmetopic synostosis or anotherdistinct process is unknown.Infants with an isolated metopicridge and minimal or notrigonocephaly do not requiresurgical correction.

Plain radiographs may displayprominent bony fusion of the metopicsuture; however, care must be takenbecause the metopic suture maynormally begin closing as early as3 months of age and all are closed by9 months of age.61 CT scans readilydemonstrate the triangular-shapedanterior fossa with midline thickeningof the metopic suture andhypotelorism (Fig 7).

ANTERIOR PLAGIOCEPHALY(UNICORONAL SYNOSTOSIS)

Unicoronal synostosis is the thirdmost common form of

craniosynostosis, accounting for 12%to 24%53,55 of nonsyndromic casesand with a prevalence of 0.7 per10 000 live births.57 Unlike otherforms of synostosis that have a malepredominance, unicoronal synostosishas a female preponderance of 1.6 to3.6:1.53,57 Unicoronal synostosisproduces anterior plagiocephaly inwhich growth along the ipsilateralcoronal suture is reduced and resultsin a flattening of the ipsilateralforehead (Fig 8). Accelerated growthof the contralateral frontal bone alongthe perimeter (metopic) and in-line(contralateral frontal) sutures resultsin compensatory bossing of thecontralateral forehead. Some parentsand providers may focus on thecontralateral compensatory bossingrather than the ipsilateral flatteningon the involved side. The metopicsuture is bowed toward the side ofthe flattening. Accelerated growthalong the squamosal suture (anotherperimeter suture) also producesa degree of ipsilateral temporalbossing as well as posterior andinferior ear displacement. The neteffect of these changes isa trapezoidal head shape withflattening of the ipsilateral calvarium(both frontally and occipitally)compared to the contralateral side(Fig 8A). This presentation stands indistinct contrast to the parallelogramhead shape that accompanies most

FIGURE 5Bathrocephaly attributable to persistent mendosal suture. A, Infant with focal prominent occiput (arrowheads). Note the lack of frontal bossing. B, Lateralskull radiograph shows prominent occiput (black arrowhead) and steep angle of the posterior skull (white arrowhead). C, CT scan shows persistentmendosal suture (arrowheads).

FIGURE 6Trigonocephaly attributable to metopic synostosis. A, Frontal view of infant showing pronouncedmidline metopic ridge and bilateral temporal narrowing. B, Vertex view in the same infant showstriangular-shaped forehead.


cases of occipital deformationalplagiocephaly (DP) (see below).

Coronal synostosis additionallyinvolves the sphenozygomatic,frontosphenoidal, andsphenoethmoidal sutures along thefrontal skull base, which producesadditional secondary morphologicchanges involving the orbits and face.Elevation of the lateral sphenoid wing

with foreshortening of the zygomaand orbit results in a characteristicelevation of the ipsilateral eyebrow,a seemingly larger palpebral fissure,and/or mild proptosis (Fig 8). Thecontralateral orbit may becomparatively smaller and isdisplaced inferiorly and laterally,sometimes leading to a verticalorbital malalignment (dystopia).Diminished growth along the

ipsilateral anterior skull base deviatesthe nasal root toward the involvedside and the nasal tip toward thecontralateral side (Fig 8B), and theipsilateral tragus is often displacedanteriorly and inferiorly. In somecases, the entire face appears to becurved with its convexity toward theinvolved side, leading to a “facialscoliosis” (Fig 8B).

Plain radiographs demonstrate poorvisualization of the involved coronalsuture. If visible, the ipsilateral sutureis deviated anteriorly compared tothe contralateral suture; one caveat isthat the radiograph must be trulylateral by demonstrating that the earsand/or external ear canals areproperly aligned. On the AP view,a characteristic “Harlequin” (or“Mephistophelean”) orbit is visible onthe involved side and is attributableto elevation of the lesser sphenoidwing (Fig 9A). The nasal bone is alsoaskew, with its upper part deviatedtoward the involved side.

The findings of unicoronal synostosisare also readily apparent on CT scans.The involved coronal suture is notvisible over most or all of its length,whereas the contralateral side isreadily apparent on axial images. Theipsilateral flattening and contralateralbossing are also readily evident onaxial images. Finally, the sphenoidwing elevation produces a distinctasymmetry to the skull base, with theipsilateral orbital roof being visibleon more superior axial images (andelevated on coronal images)compared to the contralateral orbitalroof (Fig 9B). Coronal images alsodemonstrate the Harlequin orbit togood advantage. Three-dimensionalCT reconstructions also demonstrateall of the findings.

The differential diagnosis wouldinclude occipital DP andfrontosphenoidal synostosis, bothdiscussed below. Hemifacialmicrosomia is another consideration,although the latter is manifest byprimary underdevelopment of the

FIGURE 7Radiologic features of trigonocephaly. A, Axial CT shows triangular-shaped forehead with fusedmetopic suture (arrowhead) and bitemporal narrowing. B, Three-dimensional CT scan vertexreconstructions show prominent midline metopic ridge with triangular-shaped forehead, bilateralorbital retrusion, and hypotelorism.

FIGURE 8Anterior plagiocephaly attributable to unilateral coronal synostosis. A, Vertex view in a child with leftcoronal synostosis shows flattening of the left forehead and compensatory prominence of the rightforehead, upward displacement of the left eyebrow, deviation of the nasal root toward the right andnasal tip toward the left, and trapezoidal head shape. B, Frontal view in another infant with rightcoronal synostosis shows elevation of the right eyebrow and misshapen orbit, deviation of the nasalroot toward the right and nasal tip toward the left, and significant facial scoliosis.


midface and mandible, withrelative sparing of the foreheadand orbits; the ear is also malformed,and there are often preauricularskin tags.

ANTERIOR BRACHYCEPHALY(BICORONAL SYNOSTOSIS)

Bicoronal synostosis accounts forabout 3% of nonsyndromic and mostsyndromic synostoses,53 witha prevalence of approximately 0.5 per10 000 live births.57 In bicoronalsynostosis, the coronal sutures arepalpable on both sides, the entireforehead is flattened, the head isreduced in the anteroposteriordimension (anterior brachycephaly),and the forehead often has a toweredappearance (turricephaly). Thecombination of frontal andmaxillary foreshortening results inshallow orbits and producessignificant exophthalmos; in addition,the orbits are recessed (retruded) orshallow bilaterally (Fig 10). The nasalbone is short and upturned inmany cases.

On radiographs, the anterior fossaand orbits are short and bothcoronal sutures are radio dense ordifficult to see and anteriorlydeviated. Bilateral Harlequin orbit

deformities are present withelevation of both sphenoid wings.Because both frontal bones areinvolved, the nasal bone remainsmidline. CT scans demonstratebrachycephaly, thickening and/ornonvisualization of both coronalsutures, a shallow anteriorfossa and orbits, and bilateralsphenoid wing elevation (Fig 11).Coronal images nicely demonstratebilateral Harlequin orbits aswell.

POSTERIOR SYNOSTOTICPLAGIOCEPHALY (LAMBDOIDSYNOSTOSIS)

Lambdoid synostosis is rare; incontemporary series, lambdoidsynostosis accounts for only 2% ofcases and has a prevalence of 0.1 per10 000 live births.55,57 Older studieslikely included children with DP andtheir prevalence rates are, therefore,higher. In one small series, male andfemale patients were equallyrepresented.55 True lambdoidsynostosis is usually readilydifferentiated from occipital DP (seebelow), with which it is mostcommonly confused. True lambdoidsynostosis is most commonlycharacterized by a flattening of boththe ipsilateral occiput and forehead,leading to a trapezoidal orrhomboidal head shape (Fig 12). Thecontralateral occiput may beprominent by comparison. Thelambdoid suture is prominentlyridged. The ipsilateral ear is deviatedposteriorly (in contrast to DP, inwhich it is deviated anteriorly), andthe mastoid process and associatedretromastoid occipital bone areunusually prominent, producinga retroauricular “bulge” (Fig 12).Bilateral involvement produces

FIGURE 9Radiologic features of unilateral coronal synostosis. A, A-P radiograph shows elevated ipsilateralsphenoid wing giving rise to the Harlequin eye deformity (arrowheads). The nasal bone is deviatedsuperiorly toward the fused suture. B, Axial CT scan shows trapezoidal head shape with retrusion ofthe right forehead (white arrowhead), prominence of the left forehead (black arrowhead), andelevation of the sphenoid wing (white arrow).

FIGURE 10Brachycephaly attributable to bicoronal synostosis in a child with Saethre-Chotzen syndrome. A,-Frontal view shows flattened forehead, shallow orbits with bilateral orbital retrusion, a modes-tly upturned (beaked) nose, bilateral ptosis, and midface hypoplasia. B, Lateral view of the sameinfant shows flattened and tall (turricephaly) forehead, with shallow orbits and midface hypoplasia.


a flattened occiput with ridging ofboth lambdoid sutures andretromastoid bulge on bothsides. The posterior sagittal suturemay also be involved, producing anelement of scaphocephaly as well asridging of both lambdoid andposterior sagittal sutures (the“Mercedes-Benz” sign).

Plain radiographs commonlydemonstrate significantprominence and hyperostosis ornonvisualization of the involvedlambdoid suture(s). CT scans alsodemonstrate hyperostosis ornonvisualization of the involved

lambdoid suture(s). The retromastoidbulge and posterior displacement ofthe petrous ridge are prominent; theposterior midline and the foramenmagnum at the base of the skull arealso drawn toward the ipsilateral side(Fig 12C). Three-dimensional CTscans also demonstrate thesefindings to good advantage(Fig 12D). Treatment involvesopen posterior cranial vaultreconstruction between 5 and9 months of age or endoscopicrepair as early as 2 to3 months of age, followed bymolding helmet treatment for up to1 year.

FRONTOSPHENOIDAL SYNOSTOSIS

An extremely rare form of synostosisinvolves the frontosphenoidal suture,located at the anterior skull base andcontiguous with the coronal sutureand orbital roof.62,63 Synostosisinvolving the frontosphenoidal sutureproduces plagiocephaly withipsilateral forehead flattening thatresembles unilateral coronalsynostosis but differs from the latterin that the ipsilateral orbit is deviatedinferiorly rather than superiorly, andthe nasal root is deviated away fromrather than toward the side of thesynostosis (Fig 13 A and B). Thecoronal suture is visible onneuroimaging studies, and there is noHarlequin eye orbital deformity(Fig 13 C and D); CT demonstratesthe fusion of the frontosphenoidalsuture (Fig 13E). Treatment involvesa fronto-orbital reconstruction.62,63

SYNDROMIC CRANIOFACIALMALFORMATIONS

A number of craniosynostosissyndromes have been describedphenotypically (Table 2). All of these,most commonly, include elements ofbicoronal synostosis and midfacehypoplasia. Ophthalmologicmanifestations are also common andinclude shallow orbits, some degreeof exorbitism, and extraocular muscledysfunction with strabismus andresultant amblyopia and poor visual

FIGURE 11Radiologic features of bilateral coronal synostosis. A, Axial CT scan shows shallow anterior fossaand absence of both coronal sutures (arrowheads). B, Three-dimensional CT scan reconstructedvertex view shows shallow anterior fossa, bilateral superior orbital retrusion, and bilaterally fusedcoronal sutures (arrowheads).

FIGURE 12Unilateral lambdoid synostosis. A, Anterior view shows asymmetric head with calvarium deviated toward the left. Note the symmetry of orbits. B,Posterior view shows prominent curvature of the occiput toward the left with a retromastoid bulge on the right (arrow) and flattening inferior to thebulge. C, Axial CT scan shows prominent left mastoid bulge and indentation of the occipital skull (arrowhead). D, Three-dimensional CT scan posteriorview shows the fused left lambdoid suture, retromastoid bulge (white arrowheads), and indentation of the occipital bone (black arrowhead).


acuity.64,65 More recent genetictesting has revealed significantgenotypic overlap, with the samegenetic mutation capable ofproducing distinctly differentphenotypes, and a single phenotype

resulting from different geneticpathogenic variants. It is beyond thescope of this report to describe all ofthe various syndromes in detail; briefdescriptions of the more commonsyndromes are provided. The

interested reader is referredelsewhere for more detailedinformation.66,67

Crouzon Syndrome

Crouzon syndrome is most frequentlycharacterized by bicoronal synostosisleading to a shallow anterior fossa,a high and flat forehead(turricephaly) with reducedanteroposterior cranial measurement(brachycephaly), shallow orbits andprominent globes (exorbitism),midface hypoplasia leading to anunderbite and malocclusion, andupturned (or “beaked”) nose.Involvement of other sutures may

FIGURE 13Frontosphenoidal synostosis. A, Frontal view of infant with left frontosphenoidal synostosis, with left forehead depression and retrusion and depression ofleft orbit. B, Vertex view demonstrating left forehead and orbital retrusion. Note in both images the deviation of the nasal root away from, and the nasaltip toward, the involved side, in contrast to coronal synostosis. C, Frontal three-dimensional reconstruction CT scan shows inferiorly displaced ipsilateraleyebrow and orbital roof (arrowheads) and deviation of the nasal root (arrow) toward the contralateral side (in contrast to unicoronal synostosis, seeFig 8). D, Vertex three-dimensional reconstruction CT scan shows left forehead flattening but open coronal suture on that side (arrowheads). E, Three-dimensional reconstruction CT scan with a view of the inside of the skull base with the calvarium digitally subtracted shows flattening of the left orbit.The right frontosphenoidal suture is patent (arrowhead), whereas the left is fused.

TABLE 2 Genetics of Craniofacial Syndromes

Syndrome Transmission Identified Gene Variants

Crouzon AD FGFR1, FGR2Apert AD FGFR2Pfeiffer AD FGFR1, FGR2Saethre-Chotzen AD TWISTCarpenter AR RAB23, MEGF8Antley-Bixler AR and sporadic AD transmission Uncertain (for AR) and FGFR2 (for AD)Muenke AD FGFR3

AD, autosomal-dominant; AR, autosomal-recessive.


also occur, and progressive suturalfusion has been described during thefirst 2 years of life.68 Craniosynostosisis a variable feature and, rarely, maybe absent. Syndactyly is notablyabsent. Rarely, vertebral fusion,ankylosis (particularly the elbows),and acanthosis nigricans may bepresent. Cognitive development isoften normal, and neurocognitivedeficits are uncommon. Crouzonsyndrome is transmitted as anautosomal-dominant condition withvarying penetrance; pathogenicvariants in the FGFR1 or FGFR2 genesare responsible for all but Crouzonwith acanthosis nigricans, which iscaused by pathogenic variants in theFGFR3 gene.

Apert Syndrome

The craniosynostosis pattern in Apertsyndrome is similar to that inCrouzon syndrome, althoughprogressive fusion of additionalsutures during the first 2 years occursmore commonly in Apert syndrome.Like in Crouzon syndrome,turricephaly, brachycephaly,exorbitism, beaked nose, andmalocclusion are cardinal clinicalmanifestations in Apert syndrome.Down-slanting palpebral fissures aretypical. Palatal abnormalities may bepresent and include narrowing, bifiduvula, and cleft palate,69 andvertebral fusion abnormalities (mostcommonly involving C5-C6) may bepresent.70 Structural brainabnormalities may be present,including agenesis of the corpuscallosum, gyral malformations, absentor defective septum pellucidum,megalencephaly, and static orprogressive ventriculomegaly. UnlikeCrouzon syndrome, neurocognitivedeficits are more common, with morethan one-half having subnormal IQscores. The most striking extracranialabnormality in Apert syndrome isosseous and/or soft tissue syndactylyinvolving fingers and/or toes,particularly the second, third, andfourth digits (Fig 14). The digits areshort, and broad distal phalanges may

also be present. Apert syndrome istransmitted as an autosomal-dominant condition; a mutation in theFGFR2 gene is responsible.

Pfeiffer Syndrome

Pfeiffer syndrome is characterized bybicoronal synostosis, and the midfaceis narrow but not generally retruded;there is, therefore, less significantexorbitism and malocclusion. LikeCrouzon and Apert syndromes,cranial sutures in Pfeiffer syndromemay progressively fuse over time. Thenose is generally small with a lownasal bridge. Partial syndactyly of thesecond and third fingers and/or toesare cardinal features of Pfeiffersyndrome, and the distal phalanges ofthe thumb and great toe are oftenwide. Pfeiffer syndrome istransmitted as an autosomal-dominant condition with variablepenetrance; a mutation in the FGFR2gene is responsible.

Cohen has described 3 types ofPfeiffer syndrome.71 Type I ischaracterized by typical coronalsynostosis, midface hypoplasia, anddigital malformations with normalneurocognitive development. Types II

and III are associated with muchmore severe involvement, usuallyinvolving all of the sutures (and, intype II, producing a cloverleaf skull),with shallow orbits and severeexorbitism sufficient to producecorneal exposure, airway obstruction,partial syndactyly and elbowankylosis, various visceralabnormalities, and moderate tosevere neurocognitive impairment.

Saethre-Chotzen Syndrome

Saethre-Chotzen syndrome ischaracterized by bicoronal synostosis(with occasional involvement of othersutures) leading to turricephaly andbrachycephaly with biparietalforamina but less severe midfacehypoplasia and modest exorbitism.Differentiating manifestations includeptosis of the eyelids (Fig 10A), a lowanterior hairline, and a prominentnose. Lacrimal duct abnormalitiesand a characteristic prominent earcrus may be present. Extracranialabnormalities can include partial softtissue syndactyly, most commonlyinvolving the second and third fingersand third and fourth toes; the digitsare often short and the great toes maybe broad. Saethre-Chotzen syndromeis transmitted as an autosomal-dominant condition; a mutation in theTWIST gene is responsible.

Carpenter Syndrome

Carpenter syndrome is characterizedby synostosis most commonlyinvolving both coronal sutures andvariably others as well, with shallowsupraorbital ridges and flat nasalbridge, midface, and/or mandibularhypoplasia, low-set and malformedears and a high arched palate. Anumber of digital malformations mayoccur including brachydactyly,clinodactyly, and camptodactyly(medial deviation and flexiondeformity of the distal phalanges,respectively) and polydactylyinvolving the toes. Cardiacmalformations occur in one-half ofaffected individuals and includeseptal defects, tetralogy of Fallot,

FIGURE 14Syndactyly involving the toes in an infant withApert syndrome.


transposition of the great vessels, andpersistent ductus arteriosus.Carpenter syndrome is transmitted asan autosomal-recessive condition;pathogenic variants in the RAB23 orMEGF8 genes are responsible.

Antley-Bixler Syndrome

Antley-Bixler syndrome ischaracterized by bicoronal synostosis(in 70%) with turricephaly but withfrontal bossing, midface hypoplasiawith exorbitism, and a flat anddepressed nasal bridge. Low-set anddysplastic ears are a consistentfeature, and choanal atresia orstenosis is present in 80%. Limitedlimb mobility and a diminished rangeof motion involving virtually all joints,phalangeal abnormalities (includinglong fingers with taperingfingernails), radiohumeral synostosis,and femoral bowing are commonfeatures as well. Impairedsteroidogenesis and genitalabnormalities are associated features.Antley-Bixler syndrome is mostcommonly related to pathogenicvariants in the POR gene (withimpaired steroidogenesis) andautosomal-recessive transmissionand pathogenic variants of the FGFR2gene (without impairedsteroidogenesis), with autosomal-dominant transmission.

Muenke Syndrome

Muenke syndrome is characterized byfusion of one or both coronal sutureswith a broad and shallowsupraorbital ridge and prominentforehead (bossing). Hypertelorismand flattened maxillae are variablefeatures. Hearing loss is present inapproximately one-third of patients,and macrocephaly is present inapproximately 5%.72 Muenkesyndrome is transmitted as anautosomal-dominantcondition and is unusual among thesyndromic synostoses in that itinvolves a mutation in theFGFR3 gene.

SURGICAL MANAGEMENT OFCRANIOSYNOSTOSIS

The evaluation and management ofcraniosynostosis are beyond thescope of this review, but a few generalcomments are helpful. Imaging ofsuspected craniosynostosis mostcommonly includes either plain skullradiographs or CT scans. In general,plain skull radiographs are of limitedvalue if craniosynostosis is stronglysuspected because CT scans willlikely be performed by thecraniofacial team as part of surgicalplanning. On the other hand,obtaining a CT scan in children withlow suspicion for craniosynostosis isoften unnecessary. Cranialultrasonography is used by some, andstudies suggest that it is as effectiveas plain radiographs or CT scans inidentifying a fused suture.73 However,not all radiologists are equallyexperienced at identifying fusedsutures on ultrasonography, so it isrecommended that the providercheck with the radiologist first beforeobtaining this study. Manycraniofacial teams prefer thatproviders refer these children earlyand postpone imaging until after thechild is seen by specialists. Forchildren with occipital DP, thediagnosis is usually obvious byclinical inspection, the absence ofsignificant deformity at birth, and theabsence of a retroauricular bulge;questionable cases might requireneuroimaging, but these are rare.

The timing of surgery (and, byextension, referral) is anotherimportant consideration. Traditionalrepairs of coronal, metopic, andfrontosphenoidal synostosis aregenerally delayed until 6 to10 months of age. However, the childwith symptomatic increased ICP mayrequire earlier repair. Moreover,sagittal synostosis repairs andendoscopic approaches areperformed much earlier, some asearly as 8 weeks of age. Delays inreferral often lead to more extensivesurgical repairs; early referral is,

therefore, preferable, even inquestionable cases ofcraniosynostosis.

There are many accepted surgicaloptions for craniosynostosis that areinfluenced by which suture(s) areinvolved, the clinical indication, theexperience and expertise of thecraniofacial surgical team, and, mostimportantly, the timing of theoperation. It is not the intent of thisreview to recommend any particularoperative technique because they allhave their merits.

Surgical techniques may includeendoscopic suturectomy with helmettherapy, spring-assisted cranioplasty,and subtotal and complete calvarialvault remodeling. Advantages ofendoscopic suturectomy includesmaller incisions and less operativetime and blood loss, but correctionshould be performed early (duringthe first few months of life) andfollowed by up to 12 months ofpostoperative molding helmettherapy (23 hours a day) to achievecorrection comparable to opentechniques. Spring-assistedcranioplasty is another surgicaladjunct that can be used, in whichspring-loaded devices are insertedtemporarily to help distract thefreed bones.

The advantages of open operativecorrection include more immediateand complete correction, without theneed for extended molding helmettherapy. Disadvantages includea larger incision, longer operativetimes, greater intraoperative bloodloss, and, for coronal and metopicsynostosis, the need to remodel thesuperior orbital rim (which generallyrequires that the surgery beperformed after the infant hasreached 6 months of age so theorbital rim is thick enough to hold thesurgical screws). A variety of opentechniques exist, but surgical timingis important. Open sagittal synostosisrepairs are performed much earlier(ideally between 2 and 6 months of


age) than are metopic or coronalsynostosis. Sagittal synostosis repairincludes a midline or paramedian (so-called p) craniectomy coupled witha variable degree of posterior(parietal and occipital) vaultreconstruction with barrel staveosteotomies. Later surgery (generallybeyond 6–8 months of age) mayrequire a more extensive totalcalvarial vault remodeling. Lambdoidsuture repair is also, generally,performed early. In contrast, for opencoronal or metopic synostosis, inwhich both cranial and orbitalreconstruction are performed, latersurgical correction, usually between 6and 10 months, is preferred so thatthe orbital rim is thick enough to holdthe surgical constructs used toadvance and remodel the bone. Allopen surgical approaches involvea full release of the fused suture andimmediate surgical remodeling of theskull; postoperative helmeting is notroutinely used after open repair.

The surgical management of midfacehypoplasia deserves special mentionbecause it is a frequent component ofsyndromic synostosis. Severe midfacehypoplasia can lead to airwayobstruction that requires animmediate intervention, such asa tracheostomy to secure the airway.Definitive midface correction isusually performed when the child isolder (6–8 years or more) and isusually accomplished by usingdistraction osteogenesis, in which themidface is surgically separated fromthe skull base and distraction platesare applied to the maxillary bones. Byusing distraction screws that areturned by the patient or family ona daily basis, the midface is slowlyadvanced forward, and bone grows inthe intervening gap, much like anIlizarov procedure accomplishes forlong bones.

OCCIPITAL (DEFORMATIONAL)PLAGIOCEPHALY AND BRACHYCEPHALY

The most common head shapeabnormality is deformational (also

called positional or nonsynostotic)plagiocephaly (DP) or brachycephaly(DB). The incidence of DP/DB hasbeen estimated at 20% to 50% in 6-month-old children.74 It is morecommon (approximately 60% ofcases) in male children.75 DP/DB in80% of cases presents as an acquiredpostnatal condition that is mostcommonly noted during the first 4 to12 postnatal weeks, although 20% ofcases appear to be noted at birth,likely attributable to intrauterineforces (relative fetal restraint, such asprimiparity, oligohydramnios,multiple gestation, or bicornuateuterus).75 Eighty percent of cases areright sided, and the flatteningcorresponds to the side to which theinfant naturally turns the head; thiscorrelates well with observationsmade by Volpe76 that normal supineinfants look toward the right 80% ofthe time, toward the left 20%, andalmost never look straight up. Inaddition, 15% to 20% of infants withDP/DB have some degree of neckmuscle imbalance or torticollis.75 It isnow apparent that DP/DB is notsynostotic but rather is caused bypersistent pressure on the skull in thesupine infant. The incidenceincreased significantly after the1992 “Back to Sleep” campaign,which recommended supine sleep(although the decreased rate ofsudden unexpected death in infancycertainly supports the continuedendorsement of this strategy).74

It is important to differentiate DP/DBfrom true coronal or lambdoidcraniosynostosis. The majority ofcases can be readily identified by thehistory (as described above) andclinical examination. The infant isexamined from the front, back, and,most importantly, top of the head.DP/DB is characterized by occipitalflattening: unilaterally in DP (Fig 15)and bilaterally in DB. The ipsilateralear is deviated anteriorly with respectto the contralateral side (which canbe most readily identified by placinga finger in each ear and looking down

from above the infant’s head); thepinna may be rotated outward aswell. Finally, there is often someanterior displacement of theipsilateral forehead. The resultingdeformation results ina parallelogram head shape (Fig 15A)in which the entire ipsilateral headappears to have been displacedanteriorly. In contrast, the child withunilateral coronal or lambdoidsynostosis will have a trapezoidal-shaped head with ipsilateralflattening of both frontal and occipitalcalvarium and posterior and inferiordeviation of the ipsilateral ear, asdiscussed above. Patients with DPmay have an element of facialscoliosis (Fig 15B). Although theipsilateral orbit in DP may be slightlymisshapen, the Harlequin orbitdeformity observed in unicoronalsynostosis is not present. Similarly,the bulging retromastoid area inlambdoid synostosis is absent in DPand DB. In DB, the occiput is flattenedbilaterally, and the head is, therefore,brachycephalic and widened in thetransverse dimension, leading toa round face. However, the absence ofturricephaly, orbital retrusion,Harlequin orbit, and exophthalmosdifferentiate DB from bicoronalsynostosis.

Other abnormalities observed insome cases with DP include anelement of facial scoliosis. Some haveelevation and shortening of themandible with a “hollow” space in thesubmandibular region, superficiallyresembling hemifacial microsomia.This variant seems to be morecommon among those whose DP ispresent at birth and/or those withtorticollis; it is suggested thatperhaps the shoulder may lie withinthis hollow and restrict neck rotationin utero. Another less commonvariant of DP is what is referred to asthe “Gumby” head shape in which,when viewed from the front, theipsilateral calvarium is flattened andthe vertex slopes upward toward theopposite side (Fig 15B).


A number of centers quantify theseverity of DP and DB, both for theinitial assessment and at subsequentfollow-up visits, by measuring certainanthropometric indices with cranialcalipers. The severity of DP isdescribed by using the cranial vaultasymmetry index (CVAI), whichdescribes the difference between thelongest and shortest head axes alongthe diagonal when viewed from above

(Fig 16). In general, a CVAI of .3.5 isconsistent with DP.74 The severity ofDB is described by using the cranialindex (CI), which measures the ratioof head width to head length whenviewed from above. A CI of $85% isconsistent with brachycephaly.77

The differential diagnosis of DPincludes unilateral coronal andunilateral lambdoid craniosynostosis,

both described above. In most cases,the diagnosis of DP or DB is readilyapparent on clinical examination, andadjunctive imaging such as plainradiographis or CT scans isunnecessary and would expose thechild to ionizing radiation. The use ofimaging should be reserved forequivocal cases. Plain radiographs areusually difficult to interpret, except incases of DB in which the occipitalflattening is evident on lateral films.Partial nonvisualization or focal areasof calcification adjacent to thelambdoid suture may be identified onplain radiographs and CT scans butshould not be interpreted aslambdoid synostosis. Axial CT scansreadily differentiate DP and DB fromcoronal synostosis, demonstrating theparallelogram head shape, opencoronal sutures, and normally formedanterior skull base with normalsphenoid wing and absentHarlequin orbit.

It is not our intent with this report todiscuss treatment options for DP andDB. However, the parents of infantswith DP or DB should be reassuredthat since the infant does not have

FIGURE 15Occipital deformational flattening (plagiocephaly and brachycephaly). A, Vertex view of DP shows parallelogram-shaped head with ipsilateral flattening,anterior deviation of the ipsilateral ear, and mildly prominent ipsilateral frontal bossing. B, Frontal view shows the calvarium deviated toward the rightbut no elevated eyebrow and/or orbit or deviation of the nasal root or tip. Note the upward slanting cranial vault from patient’s left to right (“Gumby”deformity). C, Posterior view of DP shows flattened right occiput with parietal boss.

FIGURE 16Diagram showing the calculation of the (A) CVAI and (B) CI. See text for definitions.


craniosynostosis, surgery is notindicated; they should be counseledthat DP and DB are solely aestheticconditions, with no credible medicalevidence suggesting that DP and DBaffect brain development or cause anyother medical condition. The headshape often improves as the childgains developmental milestones andlies less frequently on the flattenedside.74 Supervised “tummy time” aswell as varying head positions whileholding the child can help; alternatinghead positions for sleep can beattempted, but, to reduce theincidence of sudden unexplaineddeath in infancy, it should beemphasized that the infant shouldsleep alone, on his or her back, and ina crib (the ABCs of safe sleep). Arecent study noted a correlation (notnecessarily causal) between DP andpoorer cognitive outcomes78; childrenwith DP should, therefore, bemonitored for possibledevelopmental delays. The child withmuscular neck imbalance ortorticollis may be referred to physicaltherapy to teach the parentsstretching and muscle strengtheningexercises to reduce the tension of thesternocleidomastoid muscle andimprove the strength of contralateralmuscles. Use of a molding helmet maybe considered for the infant witha moderate or severe deformity but isnot required; a detailed evidence-based review of DP and DB treatmentoptions can be found in a recentpublication by the Congress ofNeurological Surgeons and isendorsed by the American Academyof Pediatrics.79–84

EARLY FONTANELLE CLOSURE ANDMICROCEPHALY

Two other common referrals tocraniofacial clinics are concerns aboutearly closure of the anteriorfontanelle and microcephaly.Although the anterior fontanelle mostcommonly closes at approximately12 months of age, there is a widevariation in the timing of fontanelle

closure, with the fontanelle closingbetween 4 and 26 months.85

Moreover, it is important to note thatclosure of the fontanelle does notmean that the sutures are closed, nordoes it mean that further calvarialgrowth is not possible. Rather, closureof the fontanelle simply reflects theapposition of the 2 frontal and 2parietal bones in such a manner thata gap cannot be palpated, althoughsutures are still present. In fact, evenafter normal fontanelle closure,significant head growth continuesthroughout childhood. As long asappropriate head growth is occurringalong the normal head growth curveand the head shape is normal, thereshould not be concern forcraniosynostosis. However, othermedical conditions can be associatedwith premature fontanelle closure,including hyperthyroidism,hyperparathyroidism,hypophosphatasia, and rickets.

Microcephaly is defined as a headcircumference below the fifthpercentile for age. There arenumerous causes for microcephaly,some of which are listed in Table 3.Primary microcephaly may begenetic; multiple pathogenic variants

with both autosomal-dominant andrecessive inheritance patterns havebeen described. Other conditions areusually identified by history, physicalexamination, and/or neuroimaging.Important considerations includea family history of microcephaly, thepresence or absence ofdevelopmental delays or cognitiveimpairment, and a past history of pre-or postnatal brain injury. Infants withnormal developmental milestones, nopast history of brain injury, anda normal head shape most often haveconstitutional microcephaly. Single-suture craniosynostosis virtuallynever causes significantmicrocephaly, although multisuturalsynostosis can. Craniosynostosis israrely a cause of microcephaly ininfants whose head circumferences,although low, are running parallel tothe normal curve and who have botha normal head shape and no familyhistory of craniosynostosis.86

CONCLUSIONS

Single-suture craniosynostosisproduces consistent head shapeabnormalities that should be readilyidentifiable by the pediatric healthcare provider. Sagittal synostosisproduces an elongated head(scaphocephaly), and metopicsynostosis produces a triangular-shaped forehead (sometimes withhypotelorism). Unilateral coronal andlambdoid synostosis as well asoccipital DP all produce anasymmetric head shape(plagiocephaly) but are readilydifferentiated by the shape of thehead (parallelogram versus trapezoidor rhombus), the position of the ears(anterior or posterior), and secondaryfeatures such as nasal deviation,orbital asymmetry, or bulging of theretromastoid region. Bilateral coronaland lambdoid synostosis producea short head (brachycephaly) and aredifferentiated by the presence orabsence of associated midfacehypoplasia or bilateral retromastoidbulging.

TABLE 3 Conditions Causing Microcephaly

Primary microcephalyChromosomal disordersAnencephalyEncephaloceleHoloprosencephalyAgenesis of the corpus callosumNeuronal migration disordersMicrocephaly vera

Secondary microcephalyIntrauterine infectionsIntrauterine toxinsIntrauterine vascular insufficiencyHypoxic-ischemic brain injuryIntracranial hemorrhageNeonatal infections (meningitis and

encephalitis)Neonatal strokeChronic cardiopulmonary or renal diseaseMalnutritionCraniosynostosis

Adapted from Pina-Garza J. Fenichel’s Clinical PediatricNeurology. 2nd ed. Amsterdam, Netherlands: Elsevier;2013:359.


DP and DB are the most commonhead shape abnormalitiesencountered by primary carephysicians; they are readily identifiedby conducting a history and clinicalexamination and do not usuallyrequire adjunctive imaging. Earlydetection and positional changes(with physical therapy for those withtorticollis) suffice for most infants;referral at 5 to 6 months of age isconsidered for helmet therapy forthose who have moderate or severedeformities that have not respondedto treatment.87

Because both single-suturecraniosynostosis and DP/DB canusually be diagnosed on clinicalexamination, routine imaging for theinitial evaluation of infant head shapeis not recommended to avoidexposing the child to unnecessaryradiation. Instead, timely referral ofinfants with craniosynostosis andthose with moderate or severe DP/DBto an experienced craniofacial team(including both a pediatricneurosurgeon and craniofacialsurgeon) will allow sufficient time forthe team to help the family cope withthe diagnosis, obtain any necessaryimaging for surgical planning, discusstreatment options, and plan a timelycorrection.

Anticipatory guidance for parents ofchildren with craniosynostosis shouldinclude monitoring for symptoms ofelevated ICP or developmental delays,especially for those with multisuturalsynostosis, and a discussion about theimportance of early and timelyreferral to specialists. Parents ofchildren with DP or DB should beencouraged to initiate positionalchanges early and, for those with

torticollis, should be taught neckstretching exercises and/or referredto a physical therapist. For those withmoderate or severe deformities,consider a referral to craniofacialspecialists to discuss moldinghelmets.

KEY POINTS

Children with craniosynostosis mostcommonly present withstereotypically shaped heads, eachassociated with particular suturalfusions:

long (scaphocephaly: sagittal);

short (brachycephaly: bicoronal orbilambdoid);

anteriorly pointed (trigonocephaly:metopic); and

asymmetric (plagiocephaly: unilateralcoronal or lambdoid).

DP and DB are the most commonhead shape abnormalities,recognized by their parallelogram-shaped head, lack of retroauricularbulge, and, in 80%, absence ofdeformation at birth.

Syndromic craniosynostosis mostcommonly manifests withbicoronal synostosis, midfacehypoplasia, and shallow orbits withexorbitism and strabismus.

Surgery is often performed within thefirst 8 to 10 weeks for sagittalsynostosis repairs, endoscopicprocedures, and raised ICP.Orbitofrontal advancements forcoronal and metopic synostosis aremost often performed between 6and 10 months.

Early referrals to craniofacial teamsare encouraged to allow earlyidentification and repair.

LEAD AUTHORS

Mark S. Dias, MD, FAAP, FAANSThomas Samson, MD, FAAPElias B. Rizk, MD, FAAP, FAANSLance S. Governale, MD, FAAP, FAANSJoan T. Richtsmeier, PhD

SECTION ON NEUROLOGIC SURGERYEXECUTIVE COMMITTEE, 2018–2019

Philip R. Aldana, MD, FAAP, ChairpersonDouglas L. Brockmeyer, MD, FAAPAndrew H. Jea, MD, FAAPJohn Ragheb, MDGregory W. Albert, MD,MPH, FAAPSandi K. Lam, MD, MBA, FAAP, FACSAnn-Christine Duhaime, MD, FAANS

SECTION ON PLASTIC AND RECONSTRUCTIVESURGERY EXECUTIVE COMMITTEE,2018–2019

Jennifer Lynn Rhodes, MD, FAAP, FACS,ChairpersonStephen B. Baker, MD, DDS, FAAP, FACS,Immediate Past ChairpersonAnand R. Kumar, MD, FAAP, FACSJugpal Arneja, MD, FAAPKarl Bruckman, MD, DDSLorelei J. Grunwaldt, MD, FAAP, FACSTimothy W. King, MD, PhD, FAAP, FACSArin K. Greene, MD, MMSc, FAAPJohn A. Girotto, MD, FAAP, FACS

ABBREVIATIONS

AP: anterior-posteriorBMP: bone morphogenetic factorCI: cranial indexCT: computed tomographyCVAI: cranial vault asymmetry

indexDB: deformational brachycephalyDP: deformational plagiocephalyFGFR: fibroblast growth factor

receptorFGR: fibroblast growth factorICP: intercranial pressure

FINANCIAL DISCLOSURE: The authors have indicated they have no financial relationships relevant to this article to disclose.

FUNDING: No external funding.

This document is copyrighted and is property of the American Academy of Pediatrics and its Board of Directors. All authors have filed conflict of interest statements

with the American Academy of Pediatrics. Any conflicts have been resolved through a process approved by the Board of Directors. The American Academy of

Pediatrics has neither solicited nor accepted any commercial involvement in the development of the content of this publication.

POTENTIAL CONFLICT OF INTEREST: The authors have indicated they have no potential conflicts of interest to disclose.


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DOI: 10.1542/peds.2020-015511 originally published online August 31, 2020; 2020;146;Pediatrics

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Identifying the Misshapen Head: Craniosynostosis and Related Disorders

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