Multiple Pterygium Syndrome

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702 Multiple pterygium syndrome is a distinct syndrome con- sisting of a constellation of congenital anomalies characterized by pterygia of the neck, antecubital, popliteal and intercrural areas, numerous flexion contractures of the joints, growth retar- dation, ptosis, antimongoloid slant with or without epicanthal folds, cleft palate, scoliosis, vertebral anomalies, rocker bottom deformity of the feet, and genital anomalies.

GENETICS/BASIC DEFECTS

1. Inheritance: genetic heterogeneity

a. Autosomal recessive inheritance in most cases b. Autosomal dominant inheritance in some cases 2. Phenotypic analysis

a. Multiple congenital pterygia, joint contractures and severe foot defects: deformation sequence secondary to reduced frequency of fetal movement

b. Micrognathia: resulting from reduced use and repre- sents “disuse hypotrophy”

c. Cleft palate: a mechanical disruption due to presumed inter-position of tongue between palatine shelves d. Neck pterygia

i. Able to exert a downward pull on facial structures ii. Responsible for the following effects:

a) Down-turned angles of the mouth b) Long philtrum

c) Anti-mongoloid slant of palpebral fissures d) Low posterior hairline

e) Anteversion and apparently low-set position of auricles

f) Often with strikingly abnormal directional hair patterning in posterior and posterior-lateral areas of scalp

iii. Short neck due to:

a) Lateral cervical pterygia

b) Secondary fusion of upper vertebrae e. Congenital scoliosis: secondary to abnormal prenatal

position, movement, and/or muscle pull f. Genital anomalies

i. Small scrotum and apparently absent or hypoplastic labia majora: resulting from the pull of the intercrural pterygia which affects a flatten- ing of these structures

ii. Cryptorchidism: representing mechanical obstruction of the processus vaginalis from pull of intercrural web or some intrinsic defect of the gubernaculums testis which is unable to effect descent of the gonads

3. Pathogenesis: the underlying pathogenesis of the secondary deformities and distortions, hypotrophies, disruptions, bony fusions, and incomplete or impeded morphogenetic movements is unknown

CLINICAL FEATURES

1. Short stature

2. Cutaneous and musculoskeletal

a. Pterygia involving the following areas:

i. Neck ii. Axillary iii. Antecubital

iv. Popliteal v. Digital vi. Intercrural

b. Multiple joint contractures c. Rib or vertebral anomalies d. Scoliosis/lordosis

e. Rocker-bottom feet with vertical talus

3. Standing with a crouching or semi-crouching stance 4. Orofacial features

a. A flat, sad, motionless facial appearance b. Epicanthal folds

c. Ptosis

d. Antimongoloid palpebral fissure e. Long philtrum

f. Pointed, receding chin

g. Down-turned angles of the mouth h. Cleft lip +/– palate

i. Apparent low-set ears 5. Genitalia

a. Males

i. Small penis and scrotum ii. Cryptorchidism

b. Females

i. Apparent aplasia of the labia majora ii. A small clitoris

DIAGNOSTIC INVESTIGATIONS

1. Radiography

a. Multiple joint contractures b. Fusion of cervical vertebrae c. Scoliosis/lordosis

d. Flexion contractures of fingers e. Rocker-bottom feet with vertical talus

2. Pathological evaluations of muscle and nerve tissue: no consistent abnormality

GENETIC COUNSELING

1. Recurrence risk a. Patient’s sib

i. Autosomal recessive inheritance: 25%

ii. Autosomal dominant inheritance: not increased unless a parent is also affected

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MULTIPLE PTERYGIUM SYNDROME 703

b. Patient’s offspring

i. Autosomal recessive inheritance: not increased unless the spouse is a carrier

ii. Autosomal dominant inheritance: 50%

2. Prenatal diagnosis possible by ultrasonography for the family at risk

a. Micrognathia b. Low-set ears c. Hypertelorism d. Cystic hygroma colli e. Rocker-bottom feet 3. Management

a. Correction of the hand deformities

i. Attention given to any deformities in the shoul- der and elbow to maximize function of the limb before initiating correction of hand deformities ii. Intensive physiotherapy and occupational thera-

py preferable to surgery for management of the upper extremity and hand anomalies

b. Correction of mild hip flexion contractures of <30°

due to inguinal webbing and crouched stance:

responding well to active and passive stretching programs

c. Correction of popliteal webbing i. Physiotherapy

ii. Traction

iii. Popliteal skin web Z-plasty with serial casting or with cable grafting the sciatic nerve (to achieve further knee extension and independent ambulation)

iv. Arthrodesis v. Amputation

vi. Excision of a significant fibrous band extending from the ischium to the calcaneus allows significant improvement in extension

d. Correction of knee flexion contracture <25° without severe ambulatory limitations: conservative, consist- ing of a stretching program and night splints

e. Correction of knee flexion contracture of 25° to 90°

i. Physiotherapy followed by popliteal Z-plasty, fibrous band excision, and lengthening of all tense structures that are not neurovascular ii. Postoperative serial casting

iii. Cable grafting or femoral shortening for neurovascular compromised cases

f. Correction of knee flexion contracture of >90° which poses significant ambulatory difficulty

i. Arthroses in extension ii. Disarticulation g. Correction of vertical talus

i. Children 6 years or younger: treated with soft tissue procedures and/or Grice subtalar arthodeses ii. Children over 6 years: undergo triple arthrodesis

at age 12

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Fig. 1. Two Honduran siblings (a 5-year-old girl and a 9-year-old boy) with multiple pterygium syndrome showing multiple pterygia involving neck, axillary, antecubital, popliteal, and intercrural areas. In addi- tion, they had multiple joint contractures affecting hips, elbows, interphalangeal, and popliteal joints, semi-crouching stance, and rocker bottom feet due to vertical tali. Vigorous physiotherapy was per- formed initially for both upper and lower extremity contractures.

Popliteal Z-plasty with release of the posterior capsule and excision of a fibrous band extending from the ischial tuberosity to the calcaneus resulted in better knee extension, but further correction was lim- ited by tight neurovascular structures. Vertical tali were addressed surgically with triple arthrodeses on the boy at age 12 and soft tissue release combined with a Grice subtalar arthrodesis on the girl at age 6. Both children attained painless plantigrade feet at discharge.

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Fig. 2. Three Nicaraguan siblings (parents are third cousins) with multiple pterygium syndrome showing similar features. Radiographs showed rocker bottom feet with vertical talus and the fusion of cervical vertebrae. Patient 1 (7-year-old boy) had motionless facial appearance, cleft palate, multiple flexion contractures, and severe webbing at the antecubital and popliteal fossae, and interphalangeal regions.

He also had severe foot deformities with calcaneus heels and vertical talus. Patient 2 (9-year-old girl) crawled at 4 years of age but had never walked. She was much more severely affected. Patient 3 (11- year-old boy) walked with difficulty but much less severely affected than younger brother and sister. Digital deformities were addressed surgically with some recurrence of original deformities. Hip flexion contractures were addressed with an active stretching program and prone positioning resulting in satisfactory resolution. Popliteal webbing was treated by either physiotherapy alone and/or operative procedures. Bilateral congenital tali were treated by either bilateral talec- tomy or arthrodesis with partial talectomies.

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Fig. 3. A boy with a sporadic case of multiple pterygium syndrome showing multiple pterygia, long philtrum, receding chin, cleft palate, low-set ears, and multiple contractures.