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

Wessels Marja W. | Zendy; Den Hollander Nicolette J. | Zendy; De Krijger Ronald R. | Zendy; Nikkels Peter G.J. | Zendy; Brandenburg Helen | Zendy; Hennekam Raoul | Zendy; Willems Patrick J. | Zendy

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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.

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