Smith-Magenis syndrome and cyanotic congenital heart disease: a case report.
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.
Wong
Janice Tzen-Yuen
JT
Department of Paediatric Medicine, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore 229899.
Chan
Daisy Kwai-Lin
DK
Wong
Keng-Yean
KY
Tan
Mary
M
Rudduck
Christina
C
Tien
Sim-Leng
SL
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*