Multiple pterygium syndrome (escobar syndrome) with atrial septal defect.
Article
in English
| IMSEAR
| ID: sea-152301
ABSTRACT
The authors present the first case of multiple pterygium syndrome (OMIM # 265000) from Gujarat, a rare syndrome characterized by multiple pterygia, facial and skeletal anomalies. A 9-year-old female child born of consanguineous marriage, with features of arthrogryposis multiplex, multiple pterygia, hypoplastic genitalia and skeletal anomalies presented with pneumonia. A previously unreported association of Atrial Septal defect was discovered on routine 2D echocardiography, which is important for prognostication and follow-up.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Language:
English
Year:
2013
Type:
Article
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