The syndrome of hirschsprung disease, microcephaly, unusual face, and mental retardation

Abstract

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.