The syndrome of Hirschsprung disease, microcephaly, unusual face, and mental retardation.
Here we report on a boy with Hirschsprung megacolon associated with microcephaly, narrow palpebral fissures, broad nasal bridge, congenital heart defect, cryptorchidism, wide-base gait, short stature, developmental delay and abnormal computed tomography (CT) brain scan. The findings are compared with those of previously described patients with the same syndrome.
Halal
F
F
Division of Medical Genetics, Montreal Children's Hospital, McGill University, Quebec, Canada.
Morel
J
J
D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities; D002648:Child; D005145:Face / Q000002:abnormalities*; D006627:Hirschsprung Disease / Q000150:complications* / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000150:complications* / Q000235:genetics; D013577:Syndrome