Dibantuin Mc

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5

ncipal chondrodysplasias Not Detectable at Birth

As in the case of those principal cliondrodys)Iasias detectable at birth, there are five main areas .or study once

as been determined by the trian;ulation reasoning process that the disorder is either iereditaryand/or congenital.

se five main areas ire the following:

The cranial area, which includes the calvaria, he face, and mental retardation

The extremities

The spine

The pelvis

The thoracic cage (which may include the )resence or absence of congenital heart disease)

o some extent there is some repetition of the :hondrodysplasias detectable at birth, since some of hese latter may

be manifest until after the age A 1 or 2 years and thus fall into both categories. In hose instances in which this

urs, the student will )e referred back to the original description under he chondrodysplasias detectable at birth.

VE AREAS INVOLVED

he extremities, thorax, vertebrae, pelvis, and lead are all involved to a greater or lesser extent in he following

orders:

. Marfan's syndrome (Fig. 4-16)

. Homocystinuria

. Osteogenesis imperfecta (Fig. 4-17)

. Achondroplasia

. Ehlers-Danlos syndrome (Fig. 4-18)

. Mucopolysaccharidoses, especially Hur-r's, Hunter's, and Morquio's syndromes

. The mucolipidoses, including gangliosidosis

. Diastrophic dwarfism of the I_Ly-Maro-aux type when it involves a slightly older individual

. Cleidocranial dysostosis (Fig. 4-19)0. The trisomies, especially 17-18 and 13-151. The congenital reticuloendothelial disorers2. Pseudoachondroplasia tarda3. Pseudohypoparathyroidism (PHP) (Fig. 44)4. Pseudopseudohypoparathyroidism (PPHP)5. Progeria (Fig. 4-25)6. Gorlin's syndrome or the basal cell nevus yndrome

n this list of disorders it will be noted that the )Mowing may occur at birth and have been previusly described:

ondroplasia, the mucopolysacharidoses, the mucolipidoses, and the Lamy-Marteaux syndrome or diastrophic

arfism.

Although diastrophic dwarfism was described in ie section on chondrodysplasias detectable at birth s primarily

olving the extremities, other abnorialities become particularly manifest at anywhere


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m 2 to 5 years of age and will be described in thisgroup affecting all five areas.

Marfan's Syndrome. Marfan's syndrome (arachnodactyly) is basically a disease of collagen and its normal

duction. It is transmitted as an`autosomal dominant disorder.

These patients are tall with elongated and thinned long bones (Fig. 4-16) and poor muscular development,

h a hypermotility of the joints. Approximately one-half of the patients have bilateral lens luxations.

Extremities. Radiologically (Fig. 4-16), the extremities show markedly elongated and thinned tubular bones,

ch are most pronounced in the hands and feet (arachnodactyly). The joints are hypermobile, as indicated

viously, but contractures, particularly of the fifth digit, are frequent_ Thereis usually a bilateral pes planus

ormity with elongation of the great toe accompanied by a bilateral genu valgus deformity. The lower extrem-

s are also excessively elongated, thin, and fragile; but there is no flaring at the metaphyseal ends of the bones.

Spine. The 'spine is usually severely scohotic, with the vertical dimension of the lumbar vertebrae particularly

ngated. (This is an important point of differentiation from a very similar appearing disorder,

mocystinuria, in which the lumbar vertebrae are flattened as in platyspondyly.)

Thorax. In the thorax, the ribs are elongated. The posterior ribs are pitched cephaiad and the anterior ribs

dad.

Pelvis. In the pelvis, the pelvic cavity appears wide, and a coxa valga is frequent. The hips are painful and

f, with a protrusio acetabuli frequently present. Congenital dislocations are frequent.

Skull. The skull is dolichocephalic, but the patients are not mentally retarded. There is usually an elongated,

h-arched palate. The sclerae are typically thin and blue. The ectopic lens of the eyes has already been described.

se patients are frequently myopic.

Homocystinuria. This condition closely resembles Marfan's syndrome in many respects; but as indicated

viously, although scoliosis is present, the vertebrae are not increased in height but tend to be flattened and

oncave. These patients are also usually mentally retarded and subject to seizures.

The hips, thoracic cage, and extremities are very similar to those described with Marfan's syndrome, with

tractures being very common around the digits, elbows, and knees.

Another point of difference from Marfan's syndrome is noted in the metaphyses, which tend to flare, in

trast with Marfan's syndrome, in which no flaring is noted.

Homocystine is found in the urine in excessive quantities, and vascular thrombosis is common.

n Marfan's syndrome, congenital defects in the heart with an aneurysm of the ascending aorta are noted, and by

ocardiography, the valves appear "floppy." In homocystinuria there is early coronary vascular thrombosis and

ic dissection but aneurysm formation is not common.

n homocystinuria the elongated bones appear

eoporotic, whereas they are relatively normal in density in Marfan's syndrome.

Osteogenesis Imperfecta (Fig. 4-17) (Frogifitas ossium, Lobstein's malady, van der Hoeve's syndrome).

eogenesis imperfecta is also a disorder of connective tissue affecting the skeleton, ligaments, skin, sclerae, and

tin.


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re are two basic forms of this disorder: a congenital variety with a high infant mortality rate and a tarda form,

ch has a normal life expectancy. In both varieties there is a marked osteoporosis with fragility of the bones

he skeleton, blue sclerae, and imperfect formation of the teeth.

xtremities. The long bones very often appear bowed. This usually correlates with the number of fractures

ountered and their healing, which is

ompanied by considerable deformity. Spranger

subdivided this disorder, correlating different clinical findings and genetic patterns of inheritance, and it is

sible that'new classifications may evolve-

ically the deformity is due to a defect in bone matrix as well as in the normal circumferential growth of the

es. The cortex is remarkably thin and mechanically weak. The phalanges and other bones often appear so

n as to suggest cystic formation. At times exostoses are present. Because of the thinness of the diaphysis,

metaphyses may actually appear expanded and somewhat hared.

kull. The most prominent findings in the Skull are the late closure of the sutures and the markedly increased

mber of wormian (sutural) bones. A platybasia is present, and often there is a thin and membranous

rocephalus. Immature collagen is found in the pulp of the teeth. Mentally the patients are normal. There is

ontal bossing. The sclerae are thin, with abnormal collagen and a blue color. The paranasal sinuses appear

e and the teeth

perfect. The spine is usually scoliotic with a platyspondyly and "codfish" vertebrae with indentation of

superior and inferior end plates (Fig. 4-17).

elvis. The pelvis is usually heart shaped with protrusio acetabuli. Often the hips are dislocated, especially in the

genital variety. Ehlers Danlos Syndrome (Fig. 4-18). This syndrome is another of the collagen disorders. It

amilial and is characterized by hyperelasticity and fragility of the skin, with hyperlaxity of the joints and a

rked tendency to bleeding. The mesenchymal defect may involve1he eye, the gastrointestinal tract, the

nchopulmonary tree, and the cardiovascular system. At-Mast seven different forms of this disorder have been

ated. The majority of these, however, are autosomal dominant. At times there would . appear to be -an X-linked

essive pattern. The syndrome has also been called cutis hyperelastica and dermatorrheiis.

xtremities. Apart from the marked laxity of thejoints (Fig. 4-18B), there is often an associated joint effusion or

marthrosis. Dislocations frequently complicate this disorder. These occur most frequently in the region of the

ulder, the knee, the temporomandibular joints, the radial heads, and the sternoclavicular and acromioclavicular

ts. Congenital hip dislocations are also frequent. The relaxed ligamentous structure results in a pes plArius of

feet. In the extremities, the relaxation of the joints frequently results in a fibular head dislocation with genu

urvatum deformity of the knee (Fig. 4-15A). The bones appear osteoporotic.

The joint laxity is of course not pathognomonic of this condition, since it also occurs with Marfan's syndrome,

sen's syndrome, Down's syndrome, and neuromuscular disorders.

A somewhat unusual but not pathognomonic finding is a calcification of subcutaneous lesions

horax. In the thorax, the ribs appear frail but are normal in length.


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s considered that the congenital variety is autosomal recessive and the tarda is autosomal dominant. In the

ly years there may be an elevated phosphatase. having the appearance of phleboliths due to scarring or

matomas. In a differential diagnosis, hemangiomata and cysticercosis are brought to mind.

ne. The spine demonstrates a severe scoliosis.

ull. In the skull there is a delayed cranial ossification and a high arching of the palate. The face demonstrates

s under the eyes, early wrinkles, blue sclerae, and lop ears. As in the case of Marfan's syndrome, cardiac valves

y be seen as "floppy"by echocardiography.

Cleidocranial Dysostosis (Fig. 4-19A to F). This disorder is primarily a deficiency in intramembranous bone

mation involving the calvaria and clavicles primarily, but other enchondral bone deformations are often

sent.

Extremities. In the upper extremities the distal phalanges appear hypoplastic, especially in the hands and

, and the diaphyses peripherally are not only osteoporotic but also fragile.

Skull. The head is usually large; the facial bones, disproportionately small. Hypertelorism of the orbits is

ally present. The nose is saddle shaped, and the bone of the mandible is deficient, with defective or delayed

tition. In the skull the sutures are markedly widened with increased wormian (sutural) bones reminiscent of

eogenesis imperfecta. There may be an associated brachycephaly. The base of the skull is often flattened

a result of platybasia, although the foramen magnum remains large and is often deformed. There is a

oplasia of the paranasal sinuses, and a high cleft palate is frequently seen.

orax. The clavicle is particularly affected. Embryologically the clavicle forms from three separate ossification

ters, andin

this disorder one or another of these centers is absent, with total lack of all three centers in about

per cent of cases (Fig. 4-19C).

Spine. The spine frequently demonstrates a spina bifida with kyphosis, lordosis, or scoliosis. A posterior

dging of the thoracic vertebrae as well as hemivertebrae may be seen.

Pelvis. In the pelvis, the bones are poorly developed and there is a wide separation of the

ic symphysis (Fig. 4-19E). Often there is an associated deficiency in the ossification of the Ischia and pubis

hypoplasia of the iliac wings. The heads of the femora often extend beyond the shallow acetabuli, with

enerative changes in the hip joints noted (Fig. 4-19).

Mongoloidism (Trisomy 21-22, Down's syndrome) (Fig. 4-20). As indicated in the nomenclature, this is a

omosomal disorder in which the patients have 47 chromosomes instead of 46.

Extremities. In the extremities, the changes observed are primarily those in the hands, which appear

ad, with clinodactyly of the fifth fingers. Often there are accessory epiphyses of the first and second

acarpals. Throughout the extremities, however, bone maturation appears accelerated:

Skull. The skull is small and brachycephalic, with a delayed closure of the sutures and a shortened base of

skull. Mental retardation is usually present. The eyes may slant upward and the iris is surrounded by a silver

ray circle made up of Brushfield's spots. The earlobes are small or absent.


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Spine. The cervical spine is often affected, with a dislocation of the atlas due to a congenital anomaly of the

ciate ligament.

Thorax. The thorax is unusual. Eleven pairs of ribs are identified, but the twelfth rib is missing.

ngenital heart disease is likely to occur, with the most prevalent defect being one in the atrioventricular

tum.

Pelvis. In the pelvis, the iliac wings appear flared, the acetabuli are flat, the ischiae are tapered, and the

c index is reduced.

Leukemia is a common complication in this disorder.

Trisomy 17-18 Syndrome (Fig. 4-21). This is another chromosomal aberration involving a trisomy of

omosome 17 or 18, usually 18. Females are more frequently affected than males.

Extremities. In the extremities, the abnormalities are particularly acromelic (involving hands and feet).

e longitudinal arches of the feet are reversed, impartin,, to them a "rocker-bottom" appearance; a

mmer" great toe is an associated finding. In the hands, the fingers are usually flexed, with the index finger

rlapping the third finger and the first metacarpal phalangeat joint being hypoplastic. There is usually an ulnar

iation of the third, fourth, and fifth fingers.

Skull. The skull appears elongated (scaphocephalic), and in particular the posterior fossa and Sella turcica

affected. The occiput is prominent. These patients are usually mentally retarded. The ears are markedly

ormal in that they are set very low and are mis-shapen. In the face there is a receding chin, a small

uth, and a hypoplastic mandible.

Spine. A scoliosis of the spine is present (Fig. 4-21), and with the deformed vertebrae noted there is

ociated defective ossification of the ribs and clavicles, which appear wavy and hypoplastic.

Thorax. As a result of spinal abnormalities, the thorax is markedly deformed, and the sternum is short.

ere is usually a congenital cardiac malformation involving either an interventricular septal defect or a

ent ductus arteriosus.

Pelvis. The pelvis is small and antimongoloid

ure 4-21. Trisomy 18 syndrome. This 5-day-old infant dem. onstrated malformed ears and palate, a small tongue, and

teral inguinal hernias. Observe defective ossification of ribs and clavicles with wavy, hypoplastic osseous contours.

om Resnick D, Niwayama G: Diagnosis of Bone and Joint Disorders: With Emphasis on Articular Abnormalities. Philadel-

a, W. B. Saunders Co., 1981.)

atypelloid), and the hips are usually dislocated, with the iliac bones appearing thin.

Trisomy 13-15 Syndrome (Paton -Syndrome) (Fig. 4-22). Trisomy 13-15 is another chromosomal aberration

t occurs more frequently with advanced maternal age. It is less distinctive radiologically than trisomy

18, but there is a close resemblance.

Extremities. In the hands, polydactyly or syndactyly is usually present. The fingernails of the

ydactylic or syndactylic hands are narrow and hyperconvex.

Skull. In the head, the forehead appears sloped and the sutures wide. The eyes are small (microphthalmos) with


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ertelorism, present. Colobomas are also noted.

Mental retardation is associated, and seizures and deafness are present. A cleft lip and palate are usually

o identified.

Spine. In the cervical spine, the interpediculate distances are increased.

orax. The ribs appear "ribbonlike" and resemble those of trisomy 17-18. As in the case of the mongoloids,

y eleven pairs of ribs are usually identified.

Pelvis. The pelvis has an antimongoloid (platypelloid) configuration.

Congenital and renal malformations are frequent, with other associated abnormalities such as intestinal

rotation, umbilical hernia, and horseshoe kidney.

Congenital Reticuloendothelial Disorders. There are three reticuloendothelial disorders that come into

sideration. All five of the areas enumerated are involved in some way or another. These are (1) erythrogenesis

erfecta, (2) congenital hypoplastic thrombocytopenia, and (3) sickle cell disease (Fig. 4-23).

Erythrogenesis Imperfecta. This disorder demonstrates mental retardation. Otherwise no gross evidence of

ormality is detected radiographically. Likewise, the thorax is involved only in that there is frequently an

ociated congenital heart disease. Basically, it is a tryptophan abnormality with anthranilic acid found in the

ne. There is also an associated normocytic normochromic anemia. The major radiographic finding is that of

arded growth, especially manifest in the extremities, and a flexion deformity of the fifth finger of the hands

nodactyly).

Congenital Hypoplastic Thrombocvtopenia. Only one radiographic abnormality is demonstrated. There is

ally bilateral absence of the radius. Mental retardation is present. On the other hand, these patients very

quently have a micrognathia and cleft palate. There is usually an associated congenital heart disease.

The hematopoietic manifestation is that of a megakarocyte deficiency.

Sickle Cell Disease (Fig. 4-23)

Extremities. A marked coarsening of the trabeculae related to the marrow disorder is present. This may be

nifest in either the upper or the

er extremities. Likewise, very frequently there are bone infarcts manifest in the metaphyses with osteoporosis

a widening of the medullary canals of the diaphyses. The hands may be involved, especially by Salmonella

eomyelitis, producing a rectangular widening of the metacarpals and phalanges and all of the radiologic

nifestations of an osteomyelitis.

pine. The spine is involved by a diffuse osteoporosis, wide medullary canals with coarsening of the

beculae. and an indentation of a rectangular type in the midsection of the end plates of the vertebrae (Fig.

3).

elvis. The pelvis is osteoporotic, with coarsening of the trabeculae, as are virtually all other bones.

kull. The skull often has a "brushlike" appearance extending outwardly toward the scalp from the outer

e; the diploe is expanded, and there is a marked thickening of the skull, especially in adults. This

earance closelyresembles that also seen in thalassemia.

ndeed, in thalassemia, the appearance of the skull, the spine, and the infarction, especially of the heads of the


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urs, resembles closely that which is found in sickle cell disease.

Pseud ohypopa rathyroid ism (PHP) and Pseudopseudohypoparathyroidism (PPHP) (Fig. 4-24). Radiologically,

se two conditions are virtually identical in their appearance and differ only in that there is a low serum calcium

a high phosphorus in PHP, since the renal tubules cannot respond to parathormone. Both are characterized

ecially by (1) dwarfism, (2) brachydactyly. and (3) soft tissue calcification. The biochemical disturbance

urs only in the PHP variety.

Skull. The. involvement of the calvaria and its contents is minimal. The major manifestations are a thick

varia and calcified basal ganglia. There is usually mental retardation, and corneal and lens opacities may

dentified. An abnormal dentition is present.

Pelvis. In the pelvis, there may be either a coxa valga or a varydeformity, and in the entire skeleton osteoporosis

clerosis may be manifest.

Extremities. In the extremities, the maturation of the bones is accelerated, with a disproportionate shortening

the metacarpals and phalanges. The third, fourth, or fifth metatarsals or metacarpals are shorter than the

oining ones. In the extremities, soft tissue calcifications are identified to the extent that they have the

earance of exostoses of the diaphyses (Fig. 4-24).

Progeria (Fig. 4-25). In progeria, also called theHutchinson-Gilford syndrome, the infant is usually'

relatively normal until approximately I year of age. most significant findings thereafter are dwarfism, premature aging, and early death.

Extremities. The main findings are an overconstriction of the longbones with a prominence of the knees. The

ows likewise appear to be enlarged, especially in the region of the capitulum and head of the radius. In the

ds, there is often a resorption of the terminal tufts. Bone maturation, however, is normal.

Pelvis. There is usually a bilateral coxa valga deformity.

Spine. The vertebrae retain their infantile central notching anteriorly and posteriorly.

Thorax. The clavicles appear small. The chest is narrow, and there is a progressive resorption of the

vicles and the ribs in many instances.

Skull. The facies are rather characteristic in that there is a beaked nose, receding chin, and baldness. The

varia demonstrate thin fontanelles that are either open or closed with wormian bones seen in excess. The sells

cica is also enlarged.

Basal-cell Nevus Syndrome (Gorlin's Syndrome) (Fig. 4-26). The main diagnostic criteria for this syndrome are

tiple basal cell epitheliomas throughout the skin of the body, mandibular cysts appearing radiologically, and

cified mesenteric cysts.

Extremities. The manifestations in the extremities are chiefly in the hands and feet (acromelic) with a

chydactyly noted.

Thorax. There is a great tendency for bifidity of the ribs.

Spine. A scoliosis may be quite marked.

Skull. There is usually a calcification of the falx cerebri. It is possible that a genetic deletion in chromosome 19

0 is responsible for this appearance.

Pseudoachondroplasia. This entity has already been considered (Fig. 4-12). It appears in this category


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ause of a variability in its manifestations. Many investigators have graded this entity from 1 to 4 as a result.

reover, the skeletal abnormalities increase during childhood but appear to assume a more normal appearance in

lthood.

f one were to describe the usual appearance, the skull, face, and thorax would be considered normal. The

n abnormalities are found in the spine and pelvis.

Spine. The spine is characterized by a platyspondyly with the interpediculate distances being normal, unlike

ondroplasia, in which interpediculate distances are diminished in the lumbar region. There is usually an

ociated scoliosis, and posterior arch defects are common.

Pelvis. In the pelvis, the acetabuli appear irregular, as do the heads of the femurs. There is often a protrusio

tabuli and coxa vara preseht, and in some instances hip dislocation may follow.

Extremities. The extremities are involved primarily in that there is a rhizomelic shortening with flaring of the

physes and metaphyses and a tendency to fragmentation.

t is thought that this probably represents a lipoprotein or glycoprotein abnormality.

The lards form of this disease is autosomal recessive.

Pelvis. There is usually a bilateral coxa valga deformity.

Spine. The vertebrae retain their infantile central notching anteriorly and posteriorly.

Thorax. The clavicles appear small. The chest is narrow, and there is a progressive resorption of the

vicles and the ribs in many instances.

Skull. The facies are rather characteristic in that there is a beaked nose, receding chin, and baldness. The

varia demonstrate thin fontanelles that are either open or closed with wormian bones seen in excess. The sells

cica is also enlarged.

Basal-cell Nevus Syndrome (Gorlin's Syndrome) (Fig. 4-26). The main diagnostic criteria for this syndrome are

tiple basal cell epitheliomas throughout the skin of the body, mandibular cysts appearing radiologically, and

cified mesenteric cysts.

Extremities. The manifestations in the extremities are chiefly in the hands and feet (acromelic) with a

chydactyly noted.

Thorax. There is a great tendency for bifidity of the ribs.

Spine. A scoliosis may be quite marked.

Skull. There is usually a calcification of the falx cerebri. It is possible that a genetic deletion in chromosome 19

0 is responsible for this appearance.

Pseudoachondroplasia. This entity has already been considered (Fig. 4-12). It appears in this category

ause of a variability in its manifestations. Many investigators have graded this entity from 1 to 4 as a result.

reover, the skeletal abnormalities increase during childhood but appear to assume a more normal appearance in

lthood.

f one were to describe the usual appearance, the skull, face, and thorax would be considered normal. The

n abnormalities are found in the spine and pelvis.

Spine. The spine is characterized by a platyspondyly with the interpediculate distances being normal, unlike


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ondroplasia, in which interpediculate distances are diminished in the lumbar region. There is usually an

ociated scoliosis, and posterior arch defects are common.

Pelvis. In the pelvis, the acetabuli appear irregular, as do the heads of the femurs. There is often a protrusio

tabuli and coxa vara preseht, and in some instances hip dislocation may follow.

Extremities. The extremities are involved primarily in that there is a rhizomelic shortening with flaring of the

physes and metaphyses and a tendency to fragmentation.

t is thought that this probably represents a lipoprotein or glycoprotein abnormality.

The lards form of this disease is autosomal recessive.

RMAL SKULL; OTHER FOUR SKELETAL AREAS ABNORMAL

Most of the entities in this group have already been considered, since they represent chondrodysplasias that may

detectable at birth or at a later period in the infant or even adolescent. Included here are

udoachondroplasia (Fig. 4-12), meta-tropic dwarfism (Fig. 4-11), which has been described under those

ndrodysplasias detectable at-birth; mucopolysaccharidoses such as Scheie's syndrome; spondyloepiphyseal

plasia (Fig. 4-5) and Turner's syndrome. This entity has not been previously described.

urner's Syndrome (Figs. 4-27 and 4-28). This

drome, also called Noonan's syndrome, is due to a chromosomal sex-linked disorder. It is a monosomy of thehromosome (XO) in a chromatin-negative female. This is therefore a gonadal dysgenesis (Keats and Burns).s would indicate that it is one of a group of syndromes involvingeither an abnormality or aplasia of theads. This would imply that there is a normal number of autosomal chromosomes but only one sexomosome. Although most fetuses with this abnormality are aborted in the first trimester of pregnancy, if a

infant is produced, the subsequent development of the child or adolescent is abnormal. The ovaries areotic, and a primary amenorrhea is present with an absence of the secondary sex characteristics of a female. In

child there is usually a lymphedema of the

-

lower extremities (Fi

g

. 4-27), a congenital webbing of thek, a cubitus valgus, and a tendency toward infantilism.

Extremities. As noted in Figures 4-27 and 4-28, the specific skeletal areas involved are the hands, wrists, andes. There is a diffuse osteoporosis, a delay in the fusion of the ossification centers, and a decrease in the carpalle, as shown. There is a medial tibial exostosis, with compensatory overgrowth (or undergrowth) of thedial femoral condyle. The distal phalanges tend to be shaped like a drumstick, and the metacarpals,ecially the third and fourth, have flat heads. The undergrowth of the fourth and fifth metacarpals has beenrred to as the "metacarpal sign of Turner's syndrome," although it is not specific.

Thorax. In the chest, the nipples are spaced broadly apart.

Spine. There is usually a hypoplasia of the first cervical segment.Skull. There is a tendency to hypertelorism and eighth cranial nerve deafness. Hypoplasia of the mandibley also occur.

n the urine there is usually an elevation of the gonadotropins, especially in individuals who grow to adulthood.

Some investigators have referred to Noonan's syndrome as a pseudo-Turner's syndrome, since apparently it canur in both males and females. Chromosomal studies and chromatin smears are normal, but mentalrdation is common. In the latter syndrome, cardiac malformations are often present, most frequently an atrialtal defect or pulmonic stenosis, as opposed to coarctation of the aorta, which is often associated with Turner'sdrome.

n Turner's syndrome there is often an associated renal anomaly, such as malrotation or a horseshoeney. Neither of these findings is present in Noonan's syndrome.

NORMAL THORAX, EXTREMITIES, AND PELVIS

n this group of disorders the spine and skull are usually not involved. Included are the HoltOramdrome, hereditary onycho-osteodysplasia (HOOD syndrome), and gonadal dysgenesis, which may include

her Turner's or Klinefelter's syndrome.


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Holt-Dram Syndrome (Upper Limb-Cardiovascular Syndrome). The extremities, especially

upper extremities, are affected with congenital anomalies. There is usually an associated congenital hearton, especially of the atrial septal defect type.Hereditary Onycho-Osteodysplasia (HOOD Syndrome) (Fig. 4-29). This syndrome has occasionally beenerred to as Foong's syndrome. It is especially characterized by dysplastic fingernails, hypoplastic or absentellae, iliac horns, and associated renal dysplasia with proteinuria. There is usually an associated foot deformityh flexion contractures and muscle hypoplasia. The elbows, pelvis, and knees are often involved.Pelvis. The noteworthy finding in regard to the pelvis is the presence of iliac horns (Fi

g. 4-29). The iliac crests

ear flared.

Extremities. In association with the subluxation of the patella, which may lbg either hypoplastic or aplastic,

re is often a hyperplasia and increased size of the medial femoral condyle, whereas the lateral femoraldyle appears diminished in size. The radial head is often hypoplastic.This disorder is thought to be autosomal dominant and follows closely ABO blood group inheritance.

There is sometimes an associated abnormal pigmentation of the iris and a Plummer-Vinson syndrome with a

ooth tongue, hyperchromic anemia, and hypochlorhydria.

NORMAL EXTREMITIES, THORAX, PELVIS, AND SKULL; OCCASIONALLY MINIMAL

VOLVEMENT OF THE SPINEhe various entities that may fall into this category are some that have already been considered, buters are to be described. Those chondrodysplasias or abnormalities characterized in this fashion are theowing:1. Pseudoachondroplasias (owing to their heterogeneous appearance, these have already been described) (Fig. 4-2. Cornelia de Lange syndrome3. Some of the Craniostenosis syndromes with syndactylism (Apert's I and Apert's 11the ApertCrouzon

ndrome)4. The Saethre-Chotzen syndrome5. Carpenter's syndrome6. Pfeiffer's

ndrome (familial acrocephalosyndactyly) (apart from congenital fusions of the cervical and lumbar

rtebrae that may occur)

At times the trisomies, such as trisomy 17-18 and 13-15, may also fall into this category, but these have

ady been described (Figs. 4-21 and 4-22) .

Cornelia de Lange Syndrome (Lee and Kenny) (Fig. 4-30). This syndrome has also been called typos

enerativus amstelodamensis. It is characterized by dwarfism, mental retardation, skeletal abnormalities, and aer characteristic facies.

Skull. The facies show a low hairline with heavy eyebrows and a thin upper lip that is concave cephalad,ducin

g a masklike appearance. The skull is usually microcephalic. There may be a spur on the mandible,

ecially on its anterior, inferior, midline surfaces.Extremities. The proximal parts of the extremities are usually normal. The distal or acromelic portions of

extremities show shortness with dwarfism and dislocations, especially of the elbow. The hips are alsoasionally dislocated. The upper extremities especially are hypoplastic, and the radial head is frequently subluxed.hands appear hypoplastic with a clinodactyly of the fifth finger. There is a diffuse retarded maturation of the

es with a supracondylar spur at times noted on the humerus. There may be segmentation anomalies, especially in

hand, with development of fewer than five metacarpals.Craniostenosis Syndromes with Syndactylism. There are four syndromes ordinarily included among these: (1)ert's I and II (Fig. 4-31), (2) the Saethre-Chotzen syndrome, (3) Carpenter's syndrome (Fig. 4-32), and (4)iffer's syndrome.Apert's I and 11. The predominant findings in Apert's I and II are in the skull, hands, and feet.Skull. Scaphocephaly is usually present, with premature closure of the sutures and associated mentalrdation.

Extremities. Syndactylism of the hands, feet, carpals, and tarsals is a predominant feature.Apart from these findings in the skull, the facies are unusual in that there is a hypertelorism with bulgings, high forehead, and short nose. The maxillae are often hypoplastichence the term "Apert-Crouzon'sdrome."Spine. A synostosis may also occur in the neck and is progressive among the bodies of the vertebra and spinous

cesses. Thus the cervical spine may also be involved, differing in this regard from the other entities in thisup.The disease is considered to be autosomal dominant.


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Clinically, the syndactyly may give rise to hands with the appearance of a "rosebud" (Fig. 4-31B).

Saethre-Chotzen Syndrome. There is a predominance of acrocephalosyndactyly in the SaethreChotzen syndromemild changes in the skeleton otherwise. There is diffuse growth retardation, and there may be a cutaneous

dactyly, but without involvement of the bones proper.ull. In the skull, apart from the premature closure of the sutures, the base of the skull is low and the sellaica is abnormally vertical and short, probably in relation to a sphenoccipital synchondrosis. The mandible isally short, and the frontal and mastoid air cells are either aplastic or hypoplastic.

arpenter's Syndrome (Acrocephalopolysyndactyly) (Fig. 4-32). craniosynostosis, polydactyly, syndactyly, andable dwarfism are noted in Carpenter's syndrome.kull. The skull may have an abnormal shape with trigonocephaly or dolicocephaly, but the changes are

nearly as severe as in Apert's syndrome.Usually syndactyly is due to soft tissue fusion. There is a clinodactyly of the fifth fingers and short middle

langes. Obesity is also present. It is

sidered to be autosomal recessive, but when autosomal dominant, it is Noack's syndrome.feiffer's Syndrome (Familial Acrocephalosyndactyly). This syndrome too is similar to Apert's as far as the

varia are concerned, but there is an associated hypertelorism and a flat nasal bridge. There is a tendency to

genital fusions of the cervical and lumbar vertebrae in this entity also.

Apart from the syndactylism and tendency to varus great toes, there is occasionally a coalition of the tarsal

es and a hypoplasia of the elbow and shoulder. It is noteworthy that there is a selective shorteningof the middle

langes of the index and fifth finger, giving rise to clinosyndactyly.

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