Management of cleft lip and palate -...

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Archives of Disease in Childhood 1996; 74: 360-366 PERSONAL PRACTICE Management of cleft lip and palate Alex Habel, Debbie Sell, Michael Mars Cleft Lip and Palate Unit, Great Ormond Street Hospital for Children NHS Trust, London A Habel, consultant paediatrician D Sell, senior speech and language therapist M Mars, consultant orthodontist Correspondence to: Dr Alex Habel, Cleft Lip and Palate Unit, Maxillofacial and Dental Department, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London WC1N 3JH. Cleft lip and/or palate (CU/P) malformations are the most common congenital abnormalities in the craniofacial region (about one in 600 live births in the UK') and present a serious prob- lem for health delivery systems throughout the world. The condition requires multiple surgical procedures from birth to maturity and frequent outpatient attendances. Many patients suffer impaired facial growth, dental anomalies, speech disorders, poor hearing, and difficulties in psychological wellbeing and social relation- ships. A recent study from Denmark showed that subjects with CIUP aged between 20 and 30 years have double the incidence of suicide when compared with normal subjects (A M Herskind et al, paper given at 7th International Congress on Cleft Palate and Related Craniofacial Anomalies, Queensland, Australia, 1993). A significant number of associated syndromes (now over 342)2 result in problems for cardiac, limb, ophthamological, and multiple other sys- tems; many have genetic implications. All these features dictate that this condition should be managed by specialist multidisciplinary teams whose members consult with the patients together.3 Ideally their services should be pro- vided in dedicated specialist centres. Most of the literature stresses the surgical timing and techniques required for primary lip and palate closure. This has unfortunately led to the view that this is simply a cosmetic prob- lem wherein once surgery in early infancy has been undertaken the problem is resolved. In other words it is inappropriately perceived, not only by some clinicians, but also by parents, as the surgical closure of a wound. This concept has historically resulted in the development of a narrow surgical perspective of the problem, which is still perpetuated in some quarters. This article deliberately avoids discussion of precise surgical protocols but aims to provide an overview with special emphasis on outcome measures from birth to maturity. The paedia- trician is ideally placed to offer a global approach for the child with CIUP. His/her involvement should start in the immediate neonatal period through to the completion of physical growth, and during the emotional and intellectual hazards of adolescence. Team structure The optimum is for the following clinicians to be available in a multidisciplinary CUIP team: paediatrician, plastic surgeon, oral-maxillo- facial surgeon, ear, nose, and throat (ENT) surgeon, audiologist, orthodontist, speech and language therapist, specialist nurse, clinic coor- dinator, psychologist, social worker, and geneticist. Maximum benefit can only be achieved by a referral rate of no fewer than 30 new cases per year which would justify the establishment of such a team; this ensures clinical expertise and experience, as well as the opportunity to provide meaningful audit of out- come (report to the Audit Committee of the Royal College of Surgeons of England, 1995). It is disturbing that the Royal College of Surgeons' recent investigation of services to this client group in the UK found that far too many surgeons are treating too few patients without proper team support.' 4 This may account for the poor results in some British centres when compared with their European counterparts.5 6 Timetable of care ANTENATAL CARE Embryologically, the primary palate (alveolus and lip) fuses from the incisive foramen anteriorly at about 5-6 weeks of intrauterine life, and the secondary palate from the incisive foramen posteriorly at about 7-8 weeks. These separate processes may fail completely or be arrested at any stage. Clefts occur in a variety of clinical presentations.7 Diagnosis of cleft lip in utero is now possible by ultrasound scan- ning from about 17 weeks. Such diagnosis however is not simple, and even in the most experienced centres these defects may be missed (C Welch, personal communication, 1994). False positives have been reported. The diagnosis of cleft palate is even more difficult. When a CIJP is diagnosed antenatally the parents are advised of the condition and referred to the team for further counselling. PERINATAL PERIOD Diagnosis and communication It is generally the paediatrician's role to identify and confirm the defect and to deter- mine if it is an isolated cleft palate or poten- tially syndromic. The whole of the palate as far back as the tip of the uvula should be examined with a tongue depressor and a bright light. Palpation with the finger may detect a notch in the posterior border of the hard palate sugges- tive of submucous cleft palate (fig 1). Other signs of this may be a bifid uvula and/or a translucent central zone. Representing 3% of all clefts, submucous cleft palate is often 360

Transcript of Management of cleft lip and palate -...

Archives ofDisease in Childhood 1996; 74: 360-366

PERSONAL PRACTICE

Management of cleft lip and palate

Alex Habel, Debbie Sell, Michael Mars

Cleft Lip and PalateUnit, Great OrmondStreet Hospital forChildren NHS Trust,LondonA Habel, consultantpaediatricianD Sell, senior speech andlanguage therapistM Mars, consultantorthodontist

Correspondence to:Dr Alex Habel, Cleft Lip andPalate Unit, Maxillofacialand Dental Department,Great Ormond StreetHospital for Children NHSTrust, Great Ormond Street,London WC1N 3JH.

Cleft lip and/or palate (CU/P) malformationsare the most common congenital abnormalitiesin the craniofacial region (about one in 600 livebirths in the UK') and present a serious prob-lem for health delivery systems throughout theworld. The condition requires multiple surgicalprocedures from birth to maturity and frequentoutpatient attendances. Many patients sufferimpaired facial growth, dental anomalies,speech disorders, poor hearing, and difficultiesin psychological wellbeing and social relation-ships. A recent study from Denmark showedthat subjects with CIUP aged between 20 and 30years have double the incidence of suicide whencompared with normal subjects (AM Herskindet al, paper given at 7th International Congresson Cleft Palate and Related CraniofacialAnomalies, Queensland, Australia, 1993). Asignificant number of associated syndromes(now over 342)2 result in problems for cardiac,limb, ophthamological, and multiple other sys-tems; many have genetic implications. All thesefeatures dictate that this condition should bemanaged by specialist multidisciplinary teamswhose members consult with the patientstogether.3 Ideally their services should be pro-vided in dedicated specialist centres.Most of the literature stresses the surgical

timing and techniques required for primary lipand palate closure. This has unfortunately ledto the view that this is simply a cosmetic prob-lem wherein once surgery in early infancy hasbeen undertaken the problem is resolved. Inother words it is inappropriately perceived, notonly by some clinicians, but also by parents, asthe surgical closure of a wound. This concepthas historically resulted in the development ofa narrow surgical perspective of the problem,which is still perpetuated in some quarters.This article deliberately avoids discussion ofprecise surgical protocols but aims to providean overview with special emphasis on outcomemeasures from birth to maturity. The paedia-trician is ideally placed to offer a globalapproach for the child with CIUP. His/herinvolvement should start in the immediateneonatal period through to the completion ofphysical growth, and during the emotional andintellectual hazards of adolescence.

Team structureThe optimum is for the following clinicians tobe available in a multidisciplinary CUIP team:paediatrician, plastic surgeon, oral-maxillo-facial surgeon, ear, nose, and throat (ENT)

surgeon, audiologist, orthodontist, speech andlanguage therapist, specialist nurse, clinic coor-dinator, psychologist, social worker, andgeneticist. Maximum benefit can only beachieved by a referral rate of no fewer than 30new cases per year which would justify theestablishment of such a team; this ensuresclinical expertise and experience, as well as theopportunity to provide meaningful audit of out-come (report to the Audit Committee of theRoyal College of Surgeons of England, 1995).It is disturbing that the Royal College ofSurgeons' recent investigation of services to thisclient group in the UK found that far too manysurgeons are treating too few patients withoutproper team support.' 4 This may account forthe poor results in some British centres whencompared with their European counterparts.5 6

Timetable of careANTENATAL CAREEmbryologically, the primary palate (alveolusand lip) fuses from the incisive foramenanteriorly at about 5-6 weeks of intrauterinelife, and the secondary palate from the incisiveforamen posteriorly at about 7-8 weeks. Theseseparate processes may fail completely or bearrested at any stage. Clefts occur in a varietyof clinical presentations.7 Diagnosis of cleft lipin utero is now possible by ultrasound scan-ning from about 17 weeks. Such diagnosishowever is not simple, and even in the mostexperienced centres these defects may bemissed (C Welch, personal communication,1994). False positives have been reported. Thediagnosis of cleft palate is even more difficult.When a CIJP is diagnosed antenatally theparents are advised of the condition andreferred to the team for further counselling.

PERINATAL PERIODDiagnosis and communicationIt is generally the paediatrician's role toidentify and confirm the defect and to deter-mine if it is an isolated cleft palate or poten-tially syndromic. The whole of the palate as farback as the tip of the uvula should be examinedwith a tongue depressor and a bright light.Palpation with the finger may detect a notch inthe posterior border of the hard palate sugges-tive of submucous cleft palate (fig 1). Othersigns of this may be a bifid uvula and/ora translucent central zone. Representing 3%of all clefts, submucous cleft palate is often

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1.

Figure I Submucous cleft palate.

missed or diagnosed late. Nasal regurgitationof fluids may alert the paediatrician.

Cleft size of itself is not necessarily cor-

related with the extent of dysfunction. Indeedsome physically small clefts of the palate andsubmucous cleft palate may have seriousimplications for speech function and hearing.Where paediatricians are in doubt early referralto a specialist team is advised.

It is important that the parents are advisedpromptly and sensitively about the birth of achild with a congenital defect. Ideally a consul-tant or senior paediatrician should be involvedin imparting the news in the first few hoursafter delivery. Most subsequent criticisms arisewhere the newborn baby is 'whisked away'from the parents and a prolonged delay ensuesbefore the parents are informed. Ideally theparents should be put in touch with a memberof the multidisciplinary team within 24 hoursof birth (report to the Audit Committee of theRoyal College of Surgeons of England, 1995).The first appointment with the CIJP teamprovides an opportunity for each member toexplain his role and involvement in long termmanagement. Parents should be encouraged tobe actively involved with decisions regardingmanagement.

Respiratory difficultiesChildren with the Pierre-Robin sequence(small mandible: micrognathia, cleft of thehard and soft palate, small retropositionedtongue: glossoptosis) may present with airwayproblems, which on occasion may be so severeas to render intubation in the newbornextremely difficult. The posteriorly attachedtongue may occlude the airway if the infant islaid on the back. The prone position often suf-fices to overcome this problem. This conditionis one of the named exceptions to the recom-mended supine posture in the 'back to sleep'campaign to reduce cot deaths. In more severecases with persistent soft tissue indrawing,cyanosis or apnoea, a nasopharyngeal airwayovercomes the obstruction, improves feeding,relieves associated congestive cardiac failure,and results in improved weight gain. A 'cutdown' Portex 3-5 mm endotracheal tube isused. Careful positioning ofthe tube just abovethe epiglottis is required but once in place itonly needs replacement every two weeks untilthe surrounding structures have grown suffi-ciently (usually within four to 12 weeks). Such

tubes can be satisfactorily managed at home inmany cases. Rarely is tracheostomy required.

Feeding difficultiesFeeding difficulties due to CLIP leading toinanition and death of affected infants wererecognised almost 400 years ago by Fabricus ofAquapendente.8 About 25% of CLIP infantshave early feeding difficulties with poor weightgain for the first two to three months (145g/week compared with an average 200 g/weekin babies without CLUP). Feeds are also oftenprolonged, in part due to ulceration of thenasal mucosa. Some infants have increasedmetabolic needs, for example due to congenitalheart disease or airway obstruction.

Successful breast feeding requires negativeintraoral pressure which cannot be generatedwith a cleft palate, but is usually possible withan isolated cleft of the lip where the breasttissue fills the defect. Some mothers are veryanxious to breast feed. These mothers shouldbe encouraged to do so, but should be warnedthat it may be difficult. Otherwise failure maylead to distress and disappointment. This issometimes resolved to some extent by mothersexpressing their milk. A wide range of specialbottles and teats are available from CLAPA(Cleft Lip and Palate Association, a nationwideparents' association) which produces a bookHelp with Feeding. The continued production ofa remarkable variety of teats (some 30 at lastcount) attest to the persistent and varied diffi-culties experienced by carers of these babies.Generally it is advised that bottle feeding is keptas simple as possible. Soft easily squeezedbottles, and/or teats with enlarged holes, are

usually effective. More complex bottles such asthe Haberman feeder may sometimes be help-ful. Usually nasogastric feeding is not requiredand should be avoided if possible. Should thisbe necessary the involvement of a speech andlanguage therapist is advocated to maintainand develop oral motor skills, and preventbehavioural problems.

Counselling, advice, and support ideallyshould be available from a specialist nurse

(report to the Audit Committee of the RoyalCollege of Surgeons of England, 1995). Thishelps to promote adequate intake, and reducesparental anxiety about weight gain. Furtherwork is required to put nutritional advice on a

truly scientific basis.

Baby platesA major area of controversy is the fabricationof baby plates (presurgical orthopaedics).9This has been common place in many Britishcentres for 50 years. Advocates claim that theyhelp with feeding, facilitate lip and palaterepair, and encourage the parent. Furtherclaims are that speech and facial growth areenhanced. To date there is no evidence to sup-port or indeed refute any of these claims. Thepractice remains empirical.

CLAPA, Gareth Davies, Chief Executive, 21 OverhillRoad, London SE22 OPQ.

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Lip and palate repairProtocols for lip and palate repair vary fromcentre to centre and are empirical. A review of34 European centres revealed 34 differentapproaches.'0 The optimum timing and natureof surgery remains elusive. As a general rule, inmost British centres lip repair is undertaken at3 months and palate repair between 6 and 12months. The recent fashion for neonatal liprepair on the basis that this will improve bond-ing of the child and mother has not beenproved. There is a current fashion for the socalled 'functional repair' first described byDelaire in Nantes (see Le Fanu and Markusand Ward Booth11 12). This is advocated bymany British oral-maxillofacial surgeons whoclaim better outcome for midface growth withthis technique, compared with more estab-lished techniques usually undertaken by plasticsurgeons. Cross centre studies between twohistorical British cohorts and four Europeancohorts did indeed show that the Britishcentres demonstrated the poorest results.13 NoBritish or indeed European centre (includingDelaire's) where the functional repair is prac-tised, has submitted its results to the samerigorous audit. Further the European 'goodresults' in the cross centre study were in caseswhere surgery had been performed by plasticsurgeons. Claims for superior outcome byBritish oral-maxillofacial surgeons using theDelaire technique must therefore be con-sidered to be premature. It will also be appreci-ated that this claim is made for only one of theoutcome measures of facial growth - no refer-ence to speech outcome is made, and yet this isrecognised as an equally important indicator ofthe success of surgery.

PRESCHOOL YEARSThe major areas of concern in the preschoolyears are: speech and language development,ENT monitoring and hearing, somatic growthand development, and general dental welfare.

Speech and language developmentEven when the palate is repaired children arestill at risk for subsequent speech disorders.The incidence of speech disorders variesconsiderably. Authors have reported thatapproximately 25% of children with CLUPdevelop normal speech after primary surgerywhile approximately 75% require many inter-ventions throughout childhood and adoles-cence to achieve acceptable speech productionand language competence.14The causes of speech disorders are often

multifactorial and complex. Persistent struc-tural anomalies such as velopharyngeal insuffi-ciency (VPI, see below), dental and occlusalproblems, oronasal fistulas, and hearingproblems may contribute. Other associatedanomalies, such as syndromes or social andpsychological factors may be causative factors.In addition, children born with cleft palate aresubject to those same factors that influence thedevelopment of speech and language in thechild without a cleft, such as neurological,

cognitive, developmental, environmental, andemotional influences.

Although expressive language developmentis often slower in these children, the speechproblems usually associated with cleft palateinclude disturbed resonance or tone, abnor-mal consonant production, excessive nasalair emission/turbulence during consonantproduction, and disturbed laryngeal voicequality.'5The commonest disorder of tone is that of

hypernasality: it occurs when the sound wavesproduced by the vocal folds enter both the oraland nasal cavities during speech, causing bothcavity chambers to vibrate and enhance thesound waves. The overall sound of the patientis 'nasal'. The main cause of hypernasality isVPI, in which there is inadequate closure ofthevelopharyngeal valve during speech. Approxi-mately 15-20% of patients who have repairwithin the first 12-15 months of life have VPI.Sometimes an oronasal fistula may be signifi-cant; air enters the nasal cavity through afistula in the hard or soft palate. When VPI issuspected two simple investigations are under-taken: multiview videofluoroscopy (moving xrays while speaking) and nasopharyngoscopy.The latter involves fibreoptic examination ofthe structure and function of the soft palateand lateral and posterior pharyngeal wallsduring speech.'6 Treatment is usually surgical,often described as a pharyngoplasty, the exactnature of which is defined by the nature of thedefect that is observed through these tech-niques.'7 The treatment options include pros-thetic appliances such as a palatal trainingappliance or speech bulb, or biofeedbackspeech treatment particularly applicable wherean inconsistent pattern of closure is found. Anobturator consists of a dental retainer with an'extension' that is designed to occlude theresidual velopharyngeal gap that occurs duringspeech.A significant problem for patients with cleft

palate is difficulty in consonant articulation.Consonant errors related to the cleft palate,that is 'cleft type errors', need to be distin-guished from those related to other aetiologicalfactors, such as hearing problems, or develop-mental factors.'5The major input of the speech and language

therapist is during the period of normal speechdevelopment, in particular the child's firstseven years. The speech and language therapistassesses, provides a differential diagnosis,advises other team members and parents/care-givers, and provides treatment. When regulartreatment is required this is usually undertakenat the child's local health centre, in close col-laboration with the team. The monitoring ofspeech continues into maturity alongsideactive orthodontic and surgical management.The timing of speech therapy intervention isoften determined in collaboration with othermembers of the team.

HearingPatients with cleft palates are at increased riskfrom middle ear effusions. This is because the

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r

Figure 2 Radiographs showing (A) before and (B) after alveolar bone graft to show bonefilling alveolar defect.

attachments of the levator palati musclearound the entrance to the eustachian tube areabnormal leading to poor aeration anddrainage of the middle ear. Repair of thepalatal defect is therefore unlikely to result inimproved function. Frequently grommet inser-tion is recommended. Regular review by theENT surgeon and audiologist is recommendedso that poor hearing is not a contributory factorto compromised speech.

Somatic growth and developmentThe nutritional, early component of theinfant-child-puberty model of growth isarguably the most important phase. For-tunately the initial poor weight gain usuallyresolves after lip closure, and catch up growthoccurs by 6 months. Ideally children with cleftpalate should have their height measuredannually. As most children attend cleft palateclinics where height measurement may not beroutinely measured, cases of impaired growthmay be missed until late. If a child withcleft palate fails to achieve a normal growthvelocity, septo-optic dysplasia and growthhormone deficiency should be suspected.Although it is reportedly 40 times commonerin CUP, this is still not frequent enough toaccount for short stature below the fifth centilebeing five times commoner in children withisolated cleft palate. The peaks and pulsatilerelease of growth hormone may be relevantbut have not been evaluated in this group ifchildren.

Alerting parents to the potential difficultiesin development can bring earlier referral forappropriate action. In the preschool years inthe non-syndromic population impaired con-centration and delay in achieving milestonesother than those of speech and language isreported to be commoner in children withCIUP. This may be a valid association withclefting, or multifactorial, and includeimpaired hearing, multiple hospitalisations,recurrent ear infections, and overprotective-ness by the parents limiting social interactionand playgroup attendance.

General dental welfareChildren with CIUP are at risk from disordereddental occlusions. If the cleft involves thedental bearing portion of the palate (thealveolar process) there is the possibility of con-genitally absent, malformed, or supernumeraryteeth. No active orthodontic intervention isrequired in the preschool years. Regular atten-dance at the dentist is recommended and theimportance of a balanced diet with a minimumof refined carbohydrates and good oral hygieneis stressed. Where the local water supply is notfluoridated fluoride supplements should beprescribed. The periods of active occlusalmanipulation should be deferred until the per-manent dentition begins to establish (seebelow).

THE SCHOOL AGED CHILDThe major areas of concern in the school yearsare: orthodontic management, the surgicalprocedure of alveolar bone grafting, academicachievement, and psychological issues. Whenappropriate the team works in close liaisonwith the community child health services.

Alveolar bone graftingAutologous bone grafting for patients with CIUPhas been practised for many decades. Earlyattempts to fill in the bone defect used rib strutsat the time of lip repair - so called 'primary bonegrafting'. The results were generally poor, andthis practice is now obsolete.

Secondary bone grafting, or alveolar bonegrafting, has been practised in Great Britainsince 1982; it was first described in America in1972.18 It is one of the major technical break-throughs in recent years. At ages 9-1 1 years

Figure 3 (A) Before and (B) after alveolar bone graftocclusion showing cleft defect and its closure; fixedappliance in place.

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Figure 4 (A) Before and (B) after late maxillary surgical advancement to correct poormidfacial growth.

cancellous bone, usually taken from the iliaccrest, is placed in the alveolar process defect. Aperiod of six to nine months of orthodonticalignment and expansion precedes the opera-tion, which is a combined surgical/orthodonticexercise. Patients are admitted for about threedays.

After three months the grafted bone is indis-tinguishable from maxillary bone on radio-graphy and the bony defect is completely filledin (fig 2). Alveolar bone grafting permits thecreation of a normal alveolar architecturethrough which teeth can erupt and sub-sequently be moved orthodontically (fig 3A).This surgery has other benefits: residualfistulas can be repaired simultaneously andmore successfully. Sometimes the appearanceof the nose can be improved because of aug-mented nasal base infrastructure. However themajor advantage of alveolar bone grafting isthat the need for future replacement of missingteeth is considerably reduced - dentures andbridges are much rarer than 15 years ago and,when required, are much smaller.

Great Ormond Street Hospital for Childrenintroduced alveolar bone grafting to the UKbased on work developed in Oslo, Norway byBergland et al.19 The success rate at GreatOrmond Street NHS Hospital Trust is over

95% in the audit reports of the first 200patients (M Collins et al, paper given at theCraniofacial Society of Great Britain,Cambridge, 1994 and Y L Jia et al, paper givenat the Craniofacial Society of Great Britain,Glasgow, 1995). No significant untowardeffects on facial growth have been observed.

After alveolar bone grafting the dentition isallowed to erupt relatively normally untildefinitive orthodontic treatment is required.

Definitive orthodontic treatmentThree to four years after alveolar bone grafting,at around 12-13 years, definitive orthodontictreatment can proceed. Treatment usually.takes two to two and a half years with out-patient appointments monthly. Alignment is

nearly always by means of fixed appliances(fig 3B) and arch expansion is required. In themajority of cases good interdental alignmentand interdigitation is now possible.

Academic achievementReading difficulties are found in a third ofprimary schoolchildren with cleft palate,caused or compounded by impaired hearing,deviant articulation, and delayed languagedevelopment.

Psychological issuesEmotional difficulties may emerge frommiddle childhood; poor self esteem andimpaired social relationships leading to depres-sion in adolescence may be improved bymidfacial surgery. Peer acceptance and posi-tive parent-child relationships are the bestprophylactics, though not always available.School refusal, even if minor, or markedoverdependence on adult company, shouldlead to a review of social function and discus-sion with child guidance. Workshops for thefacially disfigured teenager are offered free ofcharge by Changing Faces, 27 Cowper Street,London EC2A 4AP.

Child abuse is commoner in children withdisability, and children with CU/P are probablyat particular risk before closure of the defects,though this has not been quantified in a non-syndromic cleft population.

ADOLESCENCECompromisedfacial growth and the needformajor maxillary advancementA significant number of patients with CU/Pexperience distorted midfacial growth.Midfacial retrusion may not become apparentuntil the pubertal growth spurt, at which timegross facial disharmony may become evident.Studies on adult subjects from the less devel-oped world who have received no surgerywhatsoever have shown that palatal surgery inearly infancy is responsible for such growthdisruption.20 Unfortunately, palatal repair isessential for normal speech development.21No ideal timing of surgical intervention that

minimises facial growth disturbance whilepermitting normal speech development ispresently known. The two are clearly primaryobjectives of cleft lip and palate management.Benefits for one should not be obtained withdetriment to the other as may be the case withdelayed hard palate closure.22

Treatment of midface retrusionSurgical advancement of the maxilla is the onlyviable treatment for midface retrusion. This isusually delayed until facial growth has ceasedso that the facial position can be achievedwithout further adverse growth (fig 4).Unfortunately, this requirement means thatpatients have to go through their vulnerableadolescent years with a worsening facialappearance. Occasionally for this reason

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Figure 5 Boy with unilateral cleft lip and palate at birth.

surgery may be undertaken during the earlyteenage years if it is considered that delaymight cause considerable psychological harmto the patient. Such patients must be warnedthat a second major repeat operation may berequired.

RhinoplastyThe nose is one of the last components of theface to cease growing. For this reason whereverpossible rhinoplasties are deferred until thevery late teenage years.

Genetic advice and referralThree types of genetic risk groups are present.The syndromic group are most easily identifiedby examination, followed by the familial, byhistory: the isolated defect is identified byexclusion. Among the 40% of children with an

associated major malformation is the syn-dromic group. This is a large group that mayhave been relatively ignored in the past,accounting for almost 25% of a large geo-graphically representative Scottish series.23

....... .. . .......................................

Figure 6 Boy shown infig 5 after repair of unilateral cleftlip and palate.

More than 340 syndromes are associated withclefting, so this alone is not a particularly good'handle' by itself. When found with other lesscommon conditions, lip pits for example, adiagnosis can be made of Van de Woude'ssyndrome, an autosomal dominant condition.Other syndromes may be chromosomal, forexample trisomies 13 and 18, the DiGeorgesequence, and velofacial cardiac or Shprintzen'ssyndrome. The latter two conditions are nowthought to share a gene deletion at the 22q1 1region and may also be transmitted from parentto child.

In cases of isolated defects, cleft palate aloneis associated with the likelihood of recurrenceof2% whereas CIIP has a 4% risk overall, vary-ing between 2-6% depending on the severity ofthe defect. In familial cases the risk for sub-sequent pregnancies is one in 10 with two sib-lings, or sibling and parent affected. Apparentlyisolated cleft palate may be the pointer to moreserious conditions, for example Stickler's syn-drome, an autosomal dominant conditionrequiring careful ophthamological follow up,with characteristic long bone changes on radi-ography that are not always present in earlychildhood.

Outcome measuresThe principal outcome measures are facialattractiveness, speech, facial growth, and psy-chosocial wellbeing (figs 5 and 6). Teams ofsufficient size with large volumes of patientsare in a position to make meaningful audit oftheir results. For example a retropective auditof children born at Great Ormond StreetHospital for Children in 1960-70 showed that50% required major reconstructive surgery inlate adolescence.24 A more recent study ofchildren born in 1976-9 showed that this hadreduced to 35% compared with 10-12% inCopenhagen and Os10.5 These results have ledto changes in surgical technique that shouldresult in better outcome. The results of mid-face osteotomy in 30 patients one year aftersurgery are as stable as other publishedseries.25 Studies of speech and velopharyngealfunction reveal that this surgery is free of com-plications with respect to speech (D Sell et al,paper given at the 7th International Congresson Cleft Palate and Related CraniofacialAnomalies, Queensland, Australia, 1993).

ConclusionThe complex nature of treatment for CIJP, acondition that requires a large multidiscipli-nary team treating patients from birth to matu-rity, has been outlined. Subjecting centres'outcomes to audit should precede heeding thecurrent siren calls for paediatricians to referchildren exclusively to a particular surgicalspeciality. A growing body of evidence hasshown a close correlation between quality ofoutcome and the availability of high volumecentralised care by dedicated teams,4 as hasbeen proved and accepted for years in otherfields such as surgery in infancy, childhoodmalignancies, and cystic fibrosis.

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We would like to acknowledge our cleft lip and palate surgeonsMr David James and Mr Brian Sommerlad.

1 Piggott RW. Organisation of cleft lip and palate services. BrJ7 Plast Surg 1992; 45: 385-7.

2 Cohen MM, Bankier A. Syndrome delineation involvingorofacial clefting.Cleft Palate J7ournal 1991; 28: 119-20.

3 Albery EH, Hathorn IS, Pigott RW. Cleft lip and palate - ateam approach. Bristol: John Wright,1986.

4 Williams A, Shaw WC, Devlin HB. Provision of services forcleft lip and palate in England and Wales. BMJ 1994; 309:1552.

5 Mars M, Asher-McDade C, Brattstrom V, et al. The RPS. Asix-centre international study of treatment outcome inpatients with clefts of the lip and palate: part 3 dental archrelationships. Cleft Palate Journal 1992; 29: 405-8.

6 Shaw WC, Asher-McDade C, Brattstrom V, et al. A six-centre international study oftreatment outcome in patientswith clefts of the lip and palate: part 1 principles and studydesign. Cleft Palate Craniofac _T 1992; 28: 136-40.

7 Sommerlad B. Management of cleft lip and palate. CurrentPaediatrics 1994; 4: 189-95.

8 Fabricus of Aquapendente. De chiruricas operationibus.Operationes chirurgicae in duas paltes divisae. Venetiis: Apudpalium megriettum, 1619: 34-9.

9 Winters JC. Hurwitz DJ. Presurgical orthopedics in the sur-gical management of unilateral cleft lip and palate. PlastReconstr Surg 1995; 4: 755-64.

10 Hotz M, Gnoinski W, Perko M, Nussbaumer H, Hof E,Haubensak R. Early treatment of cleft lip and palate.Toronto: Hans Huber,1986.

11 Le Fanu J. The anatomy of the face. The Times, 4 May 1995:19.

12 Markus A, Ward Booth P. Managing cleft lip and palate.BMJ 1995; 311: 765-6.

13 Mars M, Shaw WC, Asher-McDade C, et al. A six-centreintemational study of treatment outcome in patients withclefts of the lip and palate: part 3 dental arch relationships.Cleft Palate J'ournal 1992; 29: 405-8.

14 Witzel MA. Speech evaluation and treatment. Oral andMaxiRlofacial Surgery Clinics of North America 1991; 3:501-16.

15 Sell D, Harding A, Grunwell P. A screening assessment ofcleft palate speech: 'GOS. SP. ASS.' (Great OrmondStreet speech assessment). Eur _J Disord Commun 1994;29: 1-15.

16 Shprintzen RJ, Golding-Kushner KJ. Evaluation ofvelopha-ryngeal insufficiency. Otolaryngol Clin North Am 1989; 22:519-36.

17 Marsh JL, O'Daniel TG. Management of velopharyngealdysfunction - a surgeon's viewpoint. Problems in Plasticand Reconstructive Surgery 1992; 2: 73-85.

18 Boyne PJ, Sands NR. Combined orthodontic-surgical man-agement of residual palato-alveolar cleft defects. AmericanJournal of Orthodontics 1976; 70: 20-37.

19 Bergland 0, Semb G, Abyholm F. Elimination of the resid-ual alveolar clefts by secondary bone grafting and subse-quent orthodontic treatment. Cleft Palate Journal 1987;23: 175-205.

20 Mars M. The effects of surgery on facial growth in unilateralcleft lip and palate patients. London:University ofLondon, 1993. (PhD thesis.)

21 Sell D. Speech in Sri Lankan cleft palate subjects withdelayed palatoplasty. Leicester: Leicester Polytechnic,1992. (PhD thesis.)

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