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.
Kajantie
E
E
Hospital for Children and Adolescents and Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland.
Andersson
S
S
Kaitila
I
I
D001238:Asphyxia Neonatorum / Q000235:genetics* / Q000628:therapy*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D015931:Intensive Care, Neonatal; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics / Q000628:therapy; D011379:Prognosis; D012138:Respiratory Therapy; D013577:Syndrome; D013909:Thorax / Q000002:abnormalities*