Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome?
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.
al-Gazali
L I
LI
Department of Genetic Counselling, General Infirmary, Leeds.
Donnai
D
D
Mueller
R F
RF
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*