Two sisters with Escobar syndrome.
Am J Med Genet
; 57(3): 425-8, 1995 Jul 03.
Article
em En
| MEDLINE
| ID: mdl-7677145
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.
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Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
Limite:
Child
/
Female
/
Humans
/
Newborn
Idioma:
En
Ano de publicação:
1995
Tipo de documento:
Article