Two sisters with Escobar syndrome.

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.

• Authors: S Spranger, M Spranger, H M Meinck, G Tariverdian
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 57 Issue 3 Pg. 425-8 (Jul 03 1995) ISSN: 0148-7299 [Print] United States
• PMID: 7677145 (Publication Type: Case Reports, Journal Article)

Topics

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