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

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.