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X‐linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
Author(s) -
Chassaing Nicolas,
Siani Virginie,
Carles Dominique,
Delezoide Anne Lise,
Alberti Eve Marie,
Battin Jacques,
Chateil Jean François,
GilbertDussardier Brigitte,
Coupry Isabelle,
Arveiler Benoit,
Saura Robert,
Lacombe Didier
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30570
Subject(s) - brachydactyly , microphthalmia , short stature , medicine , chondrodysplasia punctata , anatomy , microcephaly , phalanx , biology , pediatrics , genetics , gene
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. Radiographs showed severe platyspondyly and various bone abnormalities including a distinctive metaphyseal cupping of the metacarpals, metatarsals, and phalanges. The affected females were less affected and showed small stature, sometimes associated with body asymetry and mild mental retardation. This condition appears to be a previously unrecognized X‐linked dominant chondrodysplasia. © 2005 Wiley‐Liss, Inc.