title: Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome?
abstract: Three children are reported, a male and female sib pair of Sikh origin and a male child who was the offspring of first cousin Pakistani Muslims, with Hirschsprung's disease, hypoplastic nails, and similar minor dysmorphic features. We consider that they represent a distinct autosomal recessive syndrome.
authors.affiliation: Department of Genetic Counselling, General Infirmary, Leeds.
authors.forename: L I
authors.initials: LI
authors.lastname: al-Gazali
authors.forename: D
authors.initials: D
authors.lastname: Donnai
authors.forename: R F
authors.initials: RF
authors.lastname: Mueller
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D005260:Female; D005808:Genes, Recessive; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009264:Nails, Malformed / Q000235:genetics*