A case of rhizomelic chondrodysplasia punctata complicated with fetal arrhythmia

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

Erciyes Tip Dergisi, cilt.30, sa.4, ss.278-283, 2008 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 30 Sayı: 4
  • Basım Tarihi: 2008
  • Dergi Adı: Erciyes Tip Dergisi
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.278-283
  • Anahtar Kelimeler: Arrhythmias, Cardiac; Chondrodysplasia Punctata, Rhizomelic
  • Lokman Hekim Üniversitesi Adresli: Hayır

Özet

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.