TY - JOUR
T1 - Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: Case report and review
AU - Wessels, Marja W.
AU - den Hollander, Nicolette J.
AU - de Krijger, Ronald R.
AU - Nikkels, Peter G. J.
AU - Brandenburg, Helen
AU - Hennekam, Raoul
AU - Willems, Patrick J.
PY - 2003
Y1 - 2003
N2 - 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. (C) 2003 wiley-Liss, Inc
AB - 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. (C) 2003 wiley-Liss, Inc
U2 - https://doi.org/10.1002/ajmg.a.20202
DO - https://doi.org/10.1002/ajmg.a.20202
M3 - Review article
C2 - 12794700
SN - 1552-4825
VL - 120A
SP - 97
EP - 104
JO - American journal of medical genetics. Part A
JF - American journal of medical genetics. Part A
IS - 1
ER -