A case of rhizomelic chondrodysplasia punctata complicated with fetal arrhythmia

Dilli D., Yasar H., Baydar Z., Dilmen U., CEYLANER S., Altuǧ N., ...More

Erciyes Tip Dergisi, vol.30, no.4, pp.278-283, 2008 (ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 30 Issue: 4
  • Publication Date: 2008
  • Journal Name: Erciyes Tip Dergisi
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.278-283
  • Keywords: Arrhythmias, Cardiac; Chondrodysplasia Punctata, Rhizomelic
  • Lokman Hekim University Affiliated: No

Abstract

Rhizomelic chondrodysplasia punctata (RCDP) is a rare autosomal recessive syndrome characterized by punctuate calcifications of the cartilage associated with proximal limb shortening, joint contractures, cataracts, failure to thrive, and severe mental-motor retardation. Here we described RCDP in a male newborn based on typical clinical, biochemical, and radiological findings. He was reported as he was complicated with fetal arrhythmia because of congenital heart defect which is rarely seen in RCDP.