Rare association of Hirschsprung's disease and Joubert syndrome.
We present the case of an 18-month-old boy with Hirschsprung's disease who had psychomotor retardation. His clinical and radiological findings were consistent with Joubert syndrome. The patient was the second case to show the association between Hirschsprung's disease and Joubert syndrome in the literature. As in our case, association of these entities by chance seems to be unlikely. Genetic analysis of new Joubert syndrome and Hirschsprung's disease patients may identify the candidate genes.
Ozyurek
Hamit
H
Department of Pediatrics, Faculty of Medicine, Ondokuz Mayis University, 55139, Kurupelit, Samsun, Turkey. hozyurekibu@hotmail.com
Kayacik
Ozlem Eroglu
OE
Gungor
Olcay
O
Karagoz
Filiz
F
D003937:Diagnosis, Differential; D006627:Hirschsprung Disease / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications* / Q000175:diagnosis; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000150:complications* / Q000175:diagnosis; D013577:Syndrome