Goldblatt J, Singer S L
Department of Genetics, Princess Margaret Hospital for Children, Perth, Western Australia.
Clin Genet. 1992 Dec;42(6):306-8. doi: 10.1111/j.1399-0004.1992.tb03261.x.
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.
遗传性牙龈纤维瘤病是一种罕见的疾病，可作为一种孤立的异常情况出现，或作为遗传综合征的一部分。孤立性或综合征性疾病通常以常染色体显性方式遗传，但也有人提出存在常染色体隐性形式。我们报告了患有牙龈纤维瘤病并伴有特定面部畸形的男性和女性兄弟姐妹。描述了他们的表型，以记录这种迄今未报道的常染色体隐性遗传性牙龈纤维瘤病综合征。
