Familial asphyxiating thoracic dysplasia: clinical variability and impact of improved neonatal intensive care.
case_report · Level V
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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.
Medical subject headings
- Asphyxia Neonatorum
- Thorax