Premium
Hirschsprung's disease and Ondine's curse: further evidence for a distinct syndrome
Author(s) -
Minutillo C.
Publication year - 1989
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1989.tb03189.x
Subject(s) - congenital central hypoventilation syndrome , medicine , hirschsprung's disease , disease , incidence (geometry) , pediatrics , hypoventilation , respiratory system , physics , optics
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.