Article
X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.
American journal of medical genetics. Part A - 1 Aug 2005
Chassaing Nicolas, Siani Virginie, Carles Dominique, Delezoide Anne Lise, Alberti Eve Marie, Battin Jacques, Chateil Jean François, Gilbert-Dussardier Brigitte, Coupry Isabelle, Arveiler Benoit, Saura Robert, Lacombe Didier
Abstract excerpt
We describe a family with an X-linked dominant chondrodysplasia. Four males and six females were affected through four generations. Identification of skeletal abnormalities and hydrocephaly during the pregnancy of three male fetuses led to termination of the pregnancies. A fourth affected male died at 6 days of life. The four patients had chondrodysplasia, hydrocephaly, and facial features with microphthalmia....
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