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A homozygous PAX3 mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis
Author(s) -
Mousty Eve,
Issa Sarah,
Grosjean Frédéric,
Col JeanYves,
Khau Van Kien Philippe,
Perez MarieJosée,
Petrov Yuliya,
Reboul Dorothée,
Faubert Emmanuelle,
Le Gac MariePascale,
Bondurand Nadège,
Chiesa Jean,
Pingault Véronique
Publication year - 2015
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4703
Subject(s) - waardenburg syndrome , pax3 , medicine , first trimester , presentation (obstetrics) , mutation , prenatal diagnosis , fetus , pregnancy , pediatrics , surgery , genetics , biology , gene , transcription factor , phenotype
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.