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Two sisters with Escobar syndrome

✍ Scribed by Spranger, Stephanie ;Spranger, Matthias ;Meinck, Hans-Michael ;Tariverdian, Gholamali

Publisher: John Wiley and Sons
Year: 1995
Tongue: English
Weight: 455 KB
Volume: 57
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320570312

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✦ Synopsis

We report on 2 sisters with an autosomalrecessive 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.

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