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.