title: Autosomal recessive gingival fibromatosis with distinctive facies.
abstract: Hereditary gingival fibromatosis is a rare condition occurring as an isolated anomaly or as part of a genetic syndrome. The isolated or syndromic disorders are usually inherited in an autosomal dominant manner, but an autosomal recessive form has been suggested. We report on male and female siblings who have gingival fibromatosis in association with specific facial dysmorphism. Their phenotype is depicted and described to document this hitherto unreported autosomal recessive gingival fibromatosis syndrome.
authors.affiliation: Department of Genetics, Princess Margaret Hospital for Children, Perth, Western Australia.
authors.forename: J
authors.initials: J
authors.lastname: Goldblatt
authors.forename: S L
authors.initials: SL
authors.lastname: Singer
mesh_terms: D000293:Adolescent; D002648:Child; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005351:Fibromatosis, Gingival / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome