title: Hirschsprung disease, mental retardation and dysmorphic facial features in five unrelated children.
abstract: We report five patients with Hirschsprung disease, severe mental retardation and dysmorphic facial features including hypertelorism, prominent forehead and dysmorphic ears. All four boys had hypospadias. All had postnatally retarded 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 Hirschsprung disease, mental retardation and various dysmorphic features. Some of 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. [(1998) J Med Genet 35:617-623] closely resemble our patients suggesting that they have the same malformation syndrome.
authors.affiliation: Department of Medical Genetics, The Family Federation of Finland, Helsinki. helena.kaariainen@vaestoliitto.fi
authors.forename: H
authors.initials: H
authors.lastname: Kääriäinen
authors.forename: C
authors.initials: C
authors.lastname: Wallgren-Pettersson
authors.forename: A
authors.initials: A
authors.lastname: Clarke
authors.forename: H
authors.initials: H
authors.lastname: Pihko
authors.forename: H
authors.initials: H
authors.lastname: Taskinen
authors.forename: R
authors.initials: R
authors.lastname: Rintala
mesh_terms: D002648:Child; D002675:Child, Preschool; D002889:Chromosomes, Human, Pair 2; D019066:Facies; D005260:Female; D006627:Hirschsprung Disease / Q000235:genetics / Q000473:pathology*; D006801:Humans; D006972:Hypertelorism / Q000235:genetics / Q000473:pathology*; D007021:Hypospadias / Q000235:genetics / Q000473:pathology; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology*; D008297:Male; D014178:Translocation, Genetic