Case report of prenatal diagnosis of Stüve-Wiedemann Syndrome in a woman with another child affected too

Case report of prenatal diagnosis of Stüve-Wiedemann Syndrome in a woman with another child affected too

OBJECTIVE: Stüve-Wiedemann Syndrome (SWS; MIM 601 559) is an autosomal-recessive syndrome characterized by myotonia with mask-like face, skeletal dysplasia and intrauterine growth restriction. Other clinical findings are pursed mouth, hypoplastic midface, congenital contractures and muscular hypoton...

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Bibliographische Detailangaben
Veröffentlicht in:Journal of prenatal medicine. - 2007. - 7(2013), 3 vom: 24. Juli, Seite 35-8
1. Verfasser: Catavorello, Anita (VerfasserIn)
Weitere Verfasser: Vitale, Salvatore Giovanni, Rossetti, Diego, Caldaci, Lisa, Panella, Marco Marzio
Format: Aufsatz
Sprache:English
Veröffentlicht: 2013
Zugriff auf das übergeordnete Werk:Journal of prenatal medicine
Schlagworte:Case Reports Stüve-Wiedemann Syndrome management outcome prenatal diagnosis