Hirschsprung disease, mental retardation and dysmorphic facial features infive unrelated children

We report five patients with Hirschsprung disease, severe mental retardatio n and dysmorphic facial features including hypertelorism, prominent forehea d and dysmorphic ears. All four boys had hypospadias. All had postnatally r etarded growth. One of them had a de novo apparently balanced translocation 46,XY,t(2;11)(q22.2;q21). There are several reports on patients with Hirsc hsprung disease, mental retardation and various dysmorphic features. Some o f them, especially those reported by Tanaka et al, [(1993) Pediatr Neurol 9 :479-481], Lurie et al, [(1994) Genet Couns 5:11-14] and Mowat et al. [(199 8) J Med Genet 35:617-623] closely resemble our patients suggesting that th ey have the same malformation syndrome. Clin Dysmorphol 10: 157-163 (C) 200 1 Lippincott Williams & Wilkins.