Sudden death in childhood in a case of the G syndrome.
We report on the unexpected death at almost 8 years of a boy with the G syndrome who had successfully survived many prior life-threatening complications of the condition. The patient had a characteristic facial appearance, hypertelorism, second-degree hypospadias, stridor and cough on feeding with aspiration of barium, and uncoordinated esophageal swallowing mechanism, but no obvious laryngotracheobranchial defect on endoscopy (or coroner's autopsy). He had a prior cardiac arrest and had outgrown need for a tracheostomy. Aspiration is presumed to be the cause of death.
Einfeld
S L
SL
Department of Child and Family Psychiatry, Royal Alexandra Hospital for Children, Sydney, Australia.
Fairley
M J
MJ
Green
B F
BF
Opitz
J M
JM
D000015:Abnormalities, Multiple / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002648:Child; D003645:Death, Sudden; D003680:Deglutition Disorders / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D008297:Male; D012135:Respiratory Sounds / Q000503:physiopathology; D013577:Syndrome