title: Smith-Magenis syndrome and cyanotic congenital heart disease: a case report.
abstract: We report a male newborn infant of Chinese descent with the Smith-Magenis (SMS) syndrome who presented with a severe cyanotic congenital heart disease. This report adds pulmonary atresia and ventricular septal defect to the spectrum of cardiac defects seen in SMS.
authors.affiliation: Department of Paediatric Medicine, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore 229899.
authors.forename: Janice Tzen-Yuen
authors.initials: JT
authors.lastname: Wong
authors.forename: Daisy Kwai-Lin
authors.initials: DK
authors.lastname: Chan
authors.forename: Keng-Yean
authors.initials: KY
authors.lastname: Wong
authors.forename: Mary
authors.initials: M
authors.lastname: Tan
authors.forename: Christina
authors.initials: C
authors.lastname: Rudduck
authors.forename: Sim-Leng
authors.initials: SL
authors.lastname: Tien
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D003490:Cyanosis / Q000473:pathology; D006257:Head / Q000002:abnormalities; D006345:Heart Septal Defects, Ventricular / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D018633:Pulmonary Atresia / Q000473:pathology*