J Korean Soc Neonatol.  2006 May;13(1):189-193.

A Case of Escobar Syndrome (Multiple Pterygium Syndrome)

• Kim GH
• Kim JY
• Song ES
• Woo YJ
• Choi YY

Abstract

Multiple pterygium (Escobar) syndrome is a rare disorder manifested by growth retardation, facial and genital anomalies, and widespread musculo-skeletal deformities. This disorder was originally described by Bussiere in 1902. And then in 1976, Gorlin et al. described an autosomal recessive disorder characterized by congenital arthrogryposis, skin webs across joints and unusual faces. It was fully delineated as a distinct entity by Escobar et al. in 1978 and an alternative name, Escobar syndrome. In this report, we present an multiple pterygium syndrome that manifested by arthrogryposis, pterygium in shoulder, elbow, wrist, severe deviation of lower leg and ankle, webbed neck, microphthalmia, low set ears, small mouth and high arched palate, and genital anomalies.

Keyword

Multiple pterygium; Arthrogryposis; Growth retardation

MeSH Terms

Ankle
Arthrogryposis
Congenital Abnormalities
Ear
Elbow
Joints
Leg
Microphthalmos
Mouth
Neck
Palate
Pterygium*
Shoulder
Skin
Wrist