Type III tracheal agenesis with familial tetralogy of Fallot and absent pulmonary valve syndrome.
We describe a female infant born at 33 weeks gestation diagnosed postnatally with a previously unreported phenotype consisting of Type III tracheal agenesis plus tetralogy of Fallot with absent pulmonary valve. She was delivered to a mother who had the same congenital heart malformation, but no detectable tracheal abnormality. We discuss possible etiologies of these malformations.
Hirt-Armon
K
K
Department of Newborn Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Pober
B R
BR
Holmes
L B
LB
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011664:Pulmonary Valve / Q000002:abnormalities*; D013577:Syndrome; D013771:Tetralogy of Fallot / Q000235:genetics*; D014132:Trachea / Q000002:abnormalities*