Two sisters with Escobar syndrome

We report on 2 sisters with an autosomal-recessive multiple pterygium syndrome, type Escobar, consisting of multiple pterygia with severe contractures, short stature, and minor facial and external genital anomalies. The striking finding was severe muscular atrophy. We speculate that a neu-romuscular disorder is the underlying pathogenesis of Escobar syndrome. © 1995 Wiley-Liss, Inc.