2 SISTERS WITH ESCOBAR-SYNDROME

Authors
SPRANGER S SPRANGER M MEINCK HM TARIVERDIAN G
Citation
S. Spranger et al., 2 SISTERS WITH ESCOBAR-SYNDROME, American journal of medical genetics, 57(3), 1995, pp. 425-428
Citations number
15
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
57
Issue
3
Year of publication
1995
Pages
425 - 428
Database
ISI
SICI code
0148-7299(1995)57:3<425:2SWE>2.0.ZU;2-J
Abstract
We report on 2 sisters with an autosomal-recessive multiple pterygium syndrome, type Escobar, consisting of multiple pterygia with severe co ntractures, short stature, and minor facial and external genital anoma lies, The striking finding was severe muscular atrophy. We speculate t hat a neuromuscular disorder is the underlying pathogenesis of Escobar syndrome. (C) 1995 Wiley-Liss, Inc.