title: Absent pulmonary valve syndrome associated with DiGeorge syndrome: report of one case.
abstract: A female infant presented with cyanosis, respiratory distress and unique to-and-fro murmur which she had since the age of 1-month-old. Absent pulmonary valve syndrome was diagnosed by echocardiography. She developed seizure disorders with hypocalcemia and pneumonia at the age of 2-month-old. The patient died from sepsis, intractable respiratory and heart failure. The postmortem study confirmed the diagnosis of congenital absent pulmonary valve associated with DiGeorge syndrome.
authors.affiliation: Department of Pediatrics, Chang Gung Memorial Hospital, Kaohsiung, Taiwan, R.O.C.
authors.forename: C D
authors.initials: CD
authors.lastname: Liang
authors.forename: J P
authors.initials: JP
authors.lastname: Chang
authors.forename: W C
authors.initials: WC
authors.lastname: Chang
mesh_terms: D004062:DiGeorge Syndrome / Q000150:complications*; D005260:Female; D006801:Humans; D007223:Infant; D011664:Pulmonary Valve / Q000002:abnormalities*