Hirt-Armon K, Pober B R, Holmes L B
Department of Newborn Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Am J Med Genet. 1996 Nov 11;65(4):266-8. doi: 10.1002/(SICI)1096-8628(19961111)65:4<266::AID-AJMG3>3.0.CO;2-N.
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.