A Case of Escobar Syndrome (Multiple Pterygium Syndrome).

Kim,  Gi Hwan; Kim,  Ji Yeon; Song,  Eun Song; Woo,  Young Jong; Choi,  Young Youn

Case Report

Journal of the Korean Society of Neonatology 2006;13(1):189-193.
Published online May 1, 2006.

A Case of Escobar Syndrome (Multiple Pterygium Syndrome).

Gi Hwan Kim, Ji Yeon Kim, Eun Song Song, Young Jong Woo, Young Youn Choi

¹Department of Pediatrics, St. Carollo Hospital, Suncheon, Korea.
²Department of Pediatrics, Chonnam University Hospital, Gwang Ju, Korea. yychoi@chonnam.ac.kr

Escobar 증후군 1례

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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.

Key Words: Multiple pterygium; Arthrogryposis; Growth retardation