Hirschsprung's disease and Ondine's curse: further evidence for a distinct syndrome.
Although Hirschsprung's disease is a relatively common congenital malformation, with an estimated incidence of about 1:5000, Primary Central Hypoventilation Syndrome (Ondine's curse) is exceedingly rare, with about 50 reported cases. We describe a patient with total colonic aganglionosis occurring together with failure of automatic control of respiration, specific facial dysmorphology and characteristic CT scan changes to substantiate further the syndromic nature of this association.
Minutillo
C
C
Department of Neonatology, Princess Margaret Hospital for Children, Perth, Western Australia.
Pemberton
P J
PJ
Goldblatt
J
J
D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006627:Hirschsprung Disease / Q000150:complications* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D012886:Skull / Q000002:abnormalities*; D012891:Sleep Apnea Syndromes / Q000150:complications* / Q000235:genetics; D013577:Syndrome