|
KMID : 0438520060130010189
|
|
Journal of the Korean Society of Neonatology
2006 Volume.13 No. 1 p.189 ~ p.193
|
|
|
Multiple pterygium;Arthrogryposis;Growth retardation
|
|
Kim Gi-Hwan
Song Eun-Song
Choi Young-Youn
Woo Young-Jong
Kim Ji-Yeon
|
|
|
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
|
|
|
KEYWORD
|
|
|
Multiple pterygium, Arthrogryposis, Growth retardation
|
|
|
FullTexts / Linksout information
|
|
|
|
|
Listed journal information
|
|
  
|
|