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Article Dans Une Revue Prenatal Diagnosis Année : 2015

A homozygous PAX3 mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis

Résumé

What's already known about this topic? Waardenburg syndrome is a form of deafness associated with pigmentation abnormalities, two features that cannot been diagnosed in a fetus. Musculoskeletal abnormalities of the upper limbs are associated in Waardenburg syndrome type III (WS3). What does this study add? We document two cases of WS3 diagnosed at first trimester of pregnancy, because of a homozygous mutation in PAX3. Ultrasound examinations revealed increased nuchal translucency, lack of active movements, bilateral club hands and club feet, and neural abnormalities.

Dates et versions

hal-03579374 , version 1 (18-02-2022)

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Citer

Eve Mousty, Sarah Issa, Frédéric Grosjean, Jean-Yves Col, Philippe Khau van Kien, et al.. A homozygous PAX3 mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis. Prenatal Diagnosis, 2015, 35 (13), pp.1379-1381. ⟨10.1002/pd.4703⟩. ⟨hal-03579374⟩
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