Multiple Pterygium Syndrome, Escobar Variant

Abstract

Escobar syndrome belongs to a group of disorders characterized by joint contractures and variable degrees of webbing (multiple pterygia) mainly affecting the neck and large joints. The multiple pterygium syndromes are phenotypically and genetically heterogeneous. Clinically they have been separated into prenatally lethal and nonlethal (Escobar) types. Clinical features include short stature; pterygia of the neck, axilla, antecubital, popliteal, digital, and intercrural areas; multiple joint contractures (arthrogryposis multiplex congenita); absent or dysplastic patella; mild cutaneous syndactyly; camptodactyly; arachnodactyly; and “rocker-bottom” feet with vertical talus. Other skeletal anomalies such as scoliosis and fusion of the cervical vertebrae may occur. Reduced fetal movements detected by ultrasound or reported by mothers may be the first clinical sign. Contractures may be noted on ultrasound toward the end of the 2nd trimester of pregnancy. Facial dysmorphism such as a long and expressionless face, high arched palate, small mouth, retrognathia, and cleft lip/palate may be present. Further facial anomalies are downward slanting palpebral fissures, mild ptosis, puffiness around the eyes, epicanthal folds, and decreased facial movements.