Escobar 증후군 1례
Multiple pterygium;Arthrogryposis;Growth retardation
김기환, 송은송, 최영륜, 우영종, 김지연,
소속 상세정보
김기환 ( Kim Gi-Hwan )
순천성가롤로병원 소아과
송은송 ( Song Eun-Song )
전남대학교 의과대학 소아과학교실
최영륜 ( Choi Young-Youn )
전남대학교 의과대학 소아과학교실
우영종 ( Woo Young-Jong )
전남대학교 의과대학 소아과학교실
김지연 ( Kim Ji-Yeon )
순천성가롤로병원 소아과
KMID : 0438520060130010189
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. (J Korean Soc Neonatol 2006;13:189-193
키워드
Multiple pterygium;Arthrogryposis;Growth retardation
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