Child with fronto-facio-nasal dysplasia, Hirschsprung's disease and hypospadias.
A 3-year-old male child with fronto-facio-nasal dysplasia is reported. He also has Hirschsprung's disease and hypospadias and it is suggested that this syndrome may result from disordered neural crest migration.
Fryer
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AE
Regional Clinical Genetics Service, Royal Liverpool University Hospital, UK.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics; D002675:Child, Preschool; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D007021:Hypospadias / Q000235:genetics*; D007422:Intestines / Q000002:abnormalities; D008297:Male