Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: case report and review.
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.
Wessels
Marja W
MW
Department of Clinical Genetics, Erasmus University and University Hospital, Westzeedijk 112, 3016 AH Rotterdam, The Netherlands. m.w.wessels@erasmusmc.nl
Den Hollander
Nicolette J
NJ
De Krijger
Ronald R
RR
Nikkels
Peter G J
PG
Brandenburg
Helen
H
Hennekam
Raoul
R
Willems
Patrick J
PJ
D000015:Abnormalities, Multiple; D002356:Cartilage / Q000473:pathology*; D002806:Chondrodysplasia Punctata / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005313:Fetal Death; D005333:Fetus / Q000378:metabolism*; D005865:Gestational Age; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011859:Radiography; D016216:Ultrasonography, Prenatal