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Artículo en Inglés | IMSEAR | ID: sea-152301

RESUMEN

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.

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