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Multiple Pterygium Syndrome: Evolution of the Phenotype

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Multiple Pterygium Syndrome: Evolution of the Phenotype J Med Genet: first published as 10.1136/jmg.24.12.733 on 1 December 1987. Downloaded from Journal of Medical Genetics 1987, 24, 733-749 Multiple pterygium syndrome: evolution of the phenotype E M THOMPSON*, D DONNAIt, M BARAITSER*, C M HALL*, M E PEMBREYt, AND J FIXSEN* From *The Hospital for Sick Children, Great Ormond Street, London WCJN 3JH; tthe Department of Medical Genetics, St Mary's Hospital, Whitworth Park, Manchester M13 OJH; and 4Mothercare Unit of Paediatric Genetics, Institute of Child Health, 30 Guilford Street, London WCIN JEH. SUMMARY The clinical features of the multiple pterygium syndrome are multiple congenital joint contractures, multiple skin webs, camptodactyly, vertebral anomalies, short stature, ptosis, and antimongoloid eye slant. We present 11 new cases to show the evolution of the full phenotype from birth and to confirm autosomal recessive inheritance. We emphasise morbidity secondary to respiratory impairment and that conductive deafness may be part of the syndrome. The designation multiple pterygium syndrome was year old mother and 51 year old father who are first used by Gorlin et al' in 1976 to describe an cousin Pakistanis. Three older sibs are well. At birth autosomal recessive disorder characterised by con- he weighed 2-83 kg and had multiple joint contrac- genital arthrogryposis, skin webs (pterygia) across tures (fig 3a) including fixed hyperextension of the copyright. joints, and an unusual facies. A review by Escobar et knees, flexion deformity of the hips, valgus deform- a12 led to the alternative name Escobar syndrome, ity of the feet, bilateral elbow flexion, and adduction quoted by Smith.3 Hall et aP4 summarised findings in of the thumbs. There was a left inguinal hernia, a 42 reported cases adding seven new patients. Dif- cleft of the posterior palate, and the neck was short ferentiation from other causes of congenital arthro- with no webbing. Lymphocyte chromosome analysis gryposis may be difficult at birth since the typical was normal (46,XY). At two years two months, facial appearance, pattern of finger contractures, during hospital admission for investigation of recur- and obvious webs usually develop over the first few rent chest infections and failure to thrive (weight http://jmg.bmj.com/ years of life. only 6-8 kg, OFC 47 cm), the joint abnormalities We report 11 new cases of the syndrome to were still present and associated with limitation of confirm the recessive mode of inheritance, to movement. The chest was small and there was a improve the diagnostic criteria, and to emphasise mild scoliosis. Diagnoses considered then included the uncertain prognosis. We suggest that conductive pseudotrisomy 18, trisomy 8 mosaicism, and deafness may be part of the syndrome. Freeman-Sheldon syndrome. The joint contractures were treated surgically; postoperatively the knees Cases and hips could be fully extended and flexed. on September 30, 2021 by guest. Protected When patient 1 was six years old, one of us (MB) Case histories are presented in the following section. saw a cousin (patient 2), then two months old. The The clinical features are summarised in table 1 and similarity of their joint abnormalities prompted a the radiological abnormalities are presented in table review of an earlier photograph of patient 1 which 2 and the appendix. Selected radiographs are shown showed axillary webbing (fig 3b). A diagnosis of in fig 1. multiple pterygium syndrome was made in the two cousins. Patient 1 was re-evaluated at the age of Case reports seven years ten months when he weighed 10-9 kg and was 96 cm tall (below the 3rd centile). The PATIENT 1 (MALE, 111.8, FIG 2) characteristic facial appearance had developed, with Patient 1 was born at term by normal delivery to a 38 ptosis, antimongoloid palpebral fissures, low set ears, and micrognathia (fig 3c). Severe kyphosco- Received for publication 24 August 1986. liosis was present and multiple webs had developed Revised version accepted for publicattion 15 October 1986. in the axillary, elbow, and intercrural regions. Neck 733 J Med Genet: first published as 10.1136/jmg.24.12.733 on 1 December 1987. Downloaded from 734 E M Thompson, D Donnai, M Baraitser, C M Hall, M E Pembrey, and J Fixsen webbing was marked laterally and in the posterior and delivery, and deformities of the' knees, hips, nuchal region (fig 3d). He had flexion deformities at hands, and feet were apparent. the proximal interphalangeal joints and adducted At two months, his chin was small, the ears were thumbs. There was limitation of movement at the posteriorly rotated, and there were severe deform- knees and at the hips there was 300 of fixed flexion. ities of his feet, with a rockerbottom appearance and Intellectual development appeared normal. He suf- vertical tali (fig 4a). Both hips were dislocated and fered recurrent chest infections. the knees and hips were held in flexion. The spine was straight clinically and radiologically. The palate PATIENT 2 (MALE, IV.4, FIG 2) was intact but highly arched and there was camp- Patient 2 is the fourth child of first cousin Pakistani todactyly of the fingers and adducted thumbs (fig parents and related to patient 1 (see fig 2). He 4b). At eight months he began to sit and at 15 weighed 3-12 kg at term after a normal pregnancy months he could stand, cruise holding on, and TABLE 1 Clinicalfeatures in 11 patients with multiple pterygium syndrome. Familial cases Sporadic cases Patient 1 2 3 4 5 6 7 8 9 10 11 Total Age (y) 7 10/12 2 3/12 Died at 30 Died at 12 11/12 4 10/12 Died at 2½V2 1(01½ 8½1 6wk 8 119/12 Pterygia Neck - - +(C) +(C) +(C) + - + + - 7 (lat+post) Fingers (syndactyly) - - - +(C) +(C) + + -- + + 6 copyright. Popliteal - + - +(C) +(C) + - - + + - 6 Axillary + -- - - + - + + - - 4 Antecubital + - - - - + - + - - - 3 Intercrural + + _ _ _ _ - - - - - 2 Joints Multiple flexion contractures + + + + + + + + + + 11 Camptodactyly + + + + + + + + + + 11 Scoliosis± kyphosis + - - +(C) + +(C) +(C) + + + 9 Talipes (IJR) +I+ +l+ +/+ +l+ +l+ +l+ +l+ -l- -l- -l- +l+ 8 Face http://jmg.bmj.com/ Micrognathia + + + + + + + + + + 11 Low set ears + + - + + + + + + + 1t) Ptosis + _- + + +C + + + 9 Antimongoloid slant + + - + + + + + + _ 9 Down turned mouth + + + + + + 8 Difficulty opening mouth widely _ + + + + + + 8 Epicanthus + + + _ 6 Long philtrum + + + _ 5 Cleft palate + High - High +_ - High High 2 arch arch arch arch on September 30, 2021 by guest. Protected Short stature + + + + + + 1( Genitalia Cryptorchidism _ - 2 Hypoplastic labia majora ? + + + + Conductive hearing loss - ? + + + - - ? - (+)* 3 Respiratory disorder + + + + + + + + 8 Died _ + - - - 3 Other CHD, Diaph- Abnormal hypo- ragmatic ossicles spadias hernia, abnormal ossicles +=present, -=absent, ?=unknown. (C)=congenital. CHD=congenital heart disease. *Mild unilateral hearing loss. J Med Genet: first published as 10.1136/jmg.24.12.733 on 1 December 1987. Downloaded from Multiple pterygium syndrome: evolution of the phenotype 735 'bottom shuffle'. At two years the feet still had a patients 1 and 2 (see fig 2). At 35 weeks' gestation, rockerbottom appearance and the typical facial the mother noticed absent fetal movements. Spon- appearance was beginning to develop (fig 4c). taneous vaginal breech delivery followed induction Additional features included inability to open the of labour at 39 weeks. Abnormalities noted at birth mouth widely and a relatively large head (OFC 48-5 included marked bilateral talipes equinovarus, cm, 50th centile; height and weight 77 9 cm and 8 35 knees held in 70° of fixed flexion, abnormal chest kg, respectively, both below the 3rd centile). Web- shape, flexion deformities of the fingers with bing at the knees and in the intercrural area had adducted thumbs, stiff elbows, glandular hypospa- developed. At 27 months a mid-thoracic scoliosis dias, and an undescended right testis. The ears were and left undescended testis were detected. Mental soft and the palate was intact. At five days, a systolic development was normal as were chromosomes cardiac murmur was heard and by day 14 he was (46,XY). cyanosed and tachypnoeic and was transferred to this hospital (fig 5). His weight was then 1940 g. PATIENT 3 (MALE, IV.7, FIG 2) Cross sectional echocardiography and cardiac Patient 3, born to first cousin parents, is related to catheterisation showed situs solitus with atrioven- TABLE 2 Radiological abnormalities. Patient 1 2 3 4 5 6 7 8 9 10 11 Total Spine Scoliosis + + + ? + + + + + + + 10/10 Kyphosis* + - - ? + + - + + + + 7/10 Vertebral anomalies - - + ? + + + + + + + 8/1(1 Partial fusion of - - + + - + + + + + 7/1(0 copyright. vertebral bodies (D5-6) (C2-3. (D9-11) (D) (L) (D,L) (mid D) and/or fused laminae lower D) Anterior clefts of - - + + + - - - - - 3/1(0 vertebral bodies (Lower C) (D7-1 1) (Df- I(0) Vertebral bodies tall with decreased - - - - + - - + + + 4/1(0 AP diameter (D) (L) Failed fusi( of - - + - - - - - + - 2/10 posterior neural arches (D8-l I) (S) Chest Ribfusions - - + ? - - ? - - + - 2/9 http://jmg.bmj.com/ Clavicles Long clavicles - - - ? + + ? - + - - 3/9 Lateral hooks - - + - - - + - - 2/9 Scapulae abnormally modelled - + - - - ? - + - - 2/9 Armns Dislocated radial head ? - - -/+ ? - /+ - +1+ 3/7 (L/R) (Bilateral radioulnar synost- osis on September 30, 2021 by guest. Protected Distal radioulnar separation ? - - - -I? ?/+ +1+ +1+ +1+ 418 Feet Vertical talus (L/R) Talipes (see table 1) +1+ +/+ +1+ +1+ ? +1- +1+ +1+ ? ? 7/7 Patellae Absent or dysplastic (L/R) +1+ ?/? ?/? ?/? ?/? ?/? ?/? +1? +1+ +1+ +1+ 5/5 Hips Normal Bilateral Normal ? Both Protru- R CDH, Sec Normal Normal See CDH sub- sio ace- L hip text appen- luxed tabulae sub- dix luxed + =present, -=absent, '?=films not available. C=cervical, D=dorsal, L=lumbar. [JR indicates left/right. CDH=congenital dislocated hip. *Notc all kyphoscolioses dorsal; extended to lumbar spine in patient 9. J Med Genet: first published as 10.1136/jmg.24.12.733 on 1 December 1987. Downloaded from 736 E M Thompson, D Donnai, M Baraitser, C M Hall, M E Pembrey, and J Fixsen copyright.
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