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Prenatal diagnosis of chondroectodermal dysplasia with fetoscopy
Author(s) -
Bui TheHung,
Marsk Lars,
Eklöf Ole,
Theorell Klas
Publication year - 1984
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.1970040212
Subject(s) - fetoscopy , medicine , prenatal diagnosis , dysplasia , obstetrics , pediatrics , pregnancy , fetus , pathology , genetics , biology
Chondroectodermal dysplasia (Ellis‐van Creveld syndrome) has previously been diagnosed prenatally only once, using fetoscopy. We report on two consecutive pregnancies in a woman at risk of having a child with the syndrome during which fetoscopic visualization was performed. Ellis‐van Creveld syndrome was diagnosed prenatally in one instance, while it could be excluded in the other one. Non‐invasive prenatal diagnosis of the syndrome is discussed.