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 d
Early death in two sisters with Hennekam syndrome
β Scribed by Scarcella, A. ;De Lucia, A. ;Pasquariello, M.B. ;Gambardella, P.
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 74 KB
- Volume
- 93
- Category
- Article
- ISSN
- 0148-7299
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