Pterygium Syndrome

Association of multiple pterygia with facial anomalies, and orthopedic and genitourinary malformations. It is characterized by short stature, webbing of the neck, antecubital, digital, popliteal, and intercural areas. Joint contractures, vertebral fusion defects, and rocker-bottom feet are usually associated.

Multiple Pterygium Syndrome; Escobar Syndrome; Pterygium Universale; Pterygium Colli Syndrome.

First described in 1978 by V. Escobar, an American physician.

Remains unknown; however, several cases have been described.

Autosomal recessive inheritance in many cases, autosomal dominant determination in others. Some cases have been reported as sporadic occurrence.

Neuromuscular disorder has been evocated as underlying pathogenesis of this disease.

On the association of multiple pterygia, syndactyly, cleft palate, and micrognathia.

Facial anomalies are frequent (severe microor retrognathia, ptosis, telecanthus, microcephaly, spoonlike shape of the tongue (lingua cochlearis), cleft hard palate, ankyloglossia, deafness), normal intelligence, cardiac defect can be present, muscle weakness, myopathy, multiple orthopedic modifications (scoliosis, symphalangy, webbed neck, webbing of joints, talipes varus/valgus, syndactyly of fingers, short stature, vertebral segmentation abnormality and fusion), genitourinary tract malformation, and occasional diaphragmatic hernia. Joint contractures and rocker-bottom feet are frequently seen.

Evaluate carefully the airway (clinical, radiograph, and even endoscopy) because of facial anomalies and webbed neck. Evaluate pulmonary function (chest radiograph, pulmonary function test, arterial blood gas analysis) because of the high rate of restrictive lung disease that is observed. Search for congenital heart defect or cardiomyopathy (clinical, echography). Laboratory test should include creatine phosphokinase because of the association in one case of malignant hyperthermia (no certitude).

There is a high rate of tracheal intubation difficulties because of anatomical status; laryngeal mask airways have been successfully used. Fiberoptic intubation can be useful. Caution with intraoperative patient positioning (pterygia, fixed joints). Close perioperative respiratory observation in case of respiratory insufficiency. Perimedullar anesthesia is not contraindicated but could be difficult to perform because of vertebral fusion and kyphoscoliosis. In presence of cardiac defects, the anesthetic management should be tailored according.

Antibiotic prophylaxis in case of cardiac anomalies. Avoid succinylcholine (joint contractures, malignant hyperthermia status not clear). Muscle relaxant should be used with careful monitoring (muscle weakness, myopathy) and only after airway is secured. Postoperative opioids are not contraindicated but should be used with care in patients with respiratory insufficiency and spontaneous breathing.

Multiple Pterygium Syndrome, Lethal Type: Autosomal recessive as well as an X-linked form (multiple pterygia, dysmorphic facies, hypoplastic lungs, hypoplastic heart, jugular lymphatic obstruction sequence, generalized amyoplasia).

Popliteal Pterygium Syndrome (Faciogenital Popliteal Syndrome): Autosomal dominant (cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies).

Popliteal Pterygium Syndrome, Lethal Type: Autosomal recessive (Bartsocas-Papas syndrome) with cleft lip, neonatal/infantile death, and severe limb malformation;

Pterygia Mental Retardation Facial Dysmorphism (Haspeslagh Fryns Muelenaere Syndrome): Autosomal dominant with multiple pterygia, trigonocephaly, bulging forehead, muscle agenesis, mental retardation, and congenital cardiac anomaly.

Khalifa-Graham Syndrome: X-linked dominant versus autosomal dominant (pterygium colli, mental retardation, edema of the dorsum of hands and feet, proximally displaced small thumbs, widened interphalangeal joints, broad terminal phalanges, webbed neck).

Pterygium Syndrome Antecubital: Autosomal dominant, antecubital posterior subluxation of radial head ulnar and radius absent/abnormal, maldevelopment of radioulnar joint, limited elbow extension webbing.