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Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: Case report and review
Author(s) -
Wessels Marja W.,
Den Hollander Nicolette J.,
De Krijger Ronald R.,
Nikkels Peter G.J.,
Brandenburg Helen,
Hennekam Raoul,
Willems Patrick J.
Publication year - 2003
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.20202
Subject(s) - chondrodysplasia punctata , cartilage , fetus , hypoplasia , calcification , etiology , anatomy , biology , medicine , endocrinology , pathology , genetics , pregnancy
Chondrodysplasia punctata (CDP) is a heterogeneous condition mainly characterized by premature and ectopic calcification of cartilage. Many genetic and nongenetic causes have been described leading to a preliminar etiological classification into defects of peroxisomal metabolism, defects in cholesterol metabolism, and vitamin K (vit K) metabolism. However, numerous cases of CDP still remain unclassified. The difficulties in reaching a causal diagnosis are illustrated here by a 23‐week‐old fetus with nonrhizomelic CDP characterized by extensive cartilage stippling, brachyphalangy, and nasal hypoplasia. © 2003 Wiley‐Liss, Inc.