[Familial syndrome with lip fistulas and microforms of cleft velum].
Four siblings are reported who have congenital fistulae of their lower lips (with one exception) associated with bifid uvula and partial manifestations of submucous cleft palate, while their mother has a bilateral cleft lip and palate as well as bilateral fistulae of the lip. The malformation is possibly transmitted as an autosomal dominant trait. This special type of hereditary combination is not mentioned in the literature, as far as we know, and appears to be a very rare clinical variation of the syndrome normally associated with clefts of lip and palate and fistulae of the lip.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009957:Oroantral Fistula / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D014609:Uvula / Q000002:abnormalities
Familiär auftretendes Syndrom mit Lippenfisteln und Mikroformen der Velumspalte