Familial asphyxiating thoracic dysplasia: clinical variability and impact of improved neonatal intensive care

J Pediatr. 2001 Jul;139(1):130-3. doi: 10.1067/mpd.2001.114701.

Abstract

We describe 3 siblings with asphyxiating thoracic dysplasia whose neonatal symptoms range from mild respiratory distress to asphyxia and death. The youngest sibling received aggressive modern respiratory intensive care, survived, and at 2 years showed no respiratory symptoms. Improved neonatal intensive care has implications for clinical decision making and genetic counseling.

Publication types

  • Case Reports

MeSH terms

  • Asphyxia Neonatorum / genetics*
  • Asphyxia Neonatorum / therapy*
  • Female
  • Genes, Recessive
  • Humans
  • Infant, Newborn
  • Intensive Care, Neonatal
  • Male
  • Osteochondrodysplasias / genetics
  • Osteochondrodysplasias / therapy
  • Prognosis
  • Respiratory Therapy
  • Syndrome
  • Thorax / abnormalities*