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Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: Case report and review

2003; Wiley; Volume: 120A; Issue: 1 Linguagem: Inglês

10.1002/ajmg.a.20202

1552-4833

Marja W. Wessels, Nicolette J. Den Hollander, Ronald R. de Krijger, Peter G. J. Nikkels, Helen Brandenburg, Raoul C. M. Hennekam, Patrick J. Willems,

NF-κB Signaling Pathways

Abstract 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.