Two sisters with Escobar syndrome

Am J Med Genet. 1995 Jul 3;57(3):425-8. doi: 10.1002/ajmg.1320570312.

Abstract

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 neuromuscular disorder is the underlying pathogenesis of Escobar syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / physiopathology*
  • Arthrogryposis / physiopathology
  • Body Height
  • Child
  • Face / abnormalities
  • Female
  • Genitalia, Female / abnormalities
  • Hand Deformities, Congenital / physiopathology
  • Humans
  • Infant, Newborn
  • Syndrome