Prenatal diagnosis of chondroectodermal dysplasia with fetoscopy

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 syndrom...

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Bibliographic Details
Published inPrenatal diagnosis Vol. 4; no. 2; p. 155
Main Authors Bui, T H, Marsk, L, Eklöf, O, Theorell, K
Format Journal Article
LanguageEnglish
Published England 01.03.1984
Subjects
Adult
Diagnosis, Differential
Ellis-Van Creveld Syndrome - diagnosis
Ellis-Van Creveld Syndrome - genetics
Female
Fetoscopy - methods
Humans
Infant, Newborn
Male
Pedigree
Pregnancy
Prenatal Diagnosis - methods
Risk
Ultrasonography
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Summary: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.
ISSN:0197-3851
DOI:10.1002/pd.1970040212