title: Type III tracheal agenesis with familial tetralogy of Fallot and absent pulmonary valve syndrome.
abstract: 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.
authors.affiliation: Department of Newborn Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
authors.forename: K
authors.initials: K
authors.lastname: Hirt-Armon
authors.forename: B R
authors.initials: BR
authors.lastname: Pober
authors.forename: L B
authors.initials: LB
authors.lastname: Holmes
mesh_terms: 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*