Gingival fibromatosis, short stature, border-line IQ, facial dysmorphism and hepatomegaly

Autor:	İsmail Marakoğlu, Percin, E. F., Gursoy, U. K., Onarlioglu, B., Ergur, A. T.
Přispěvatelé:	Cumhuriyet Univ, Fac Dent, Dept Periodontol, Sivas, Turkey -- Gazi Univ, Fac Med, Dept Med Biol & Genet, Ankara, Turkey -- Cumhuriyet Univ, Fac Med, Dept Histol, Sivas, Turkey -- Cumhuriyet Univ, Fac Med, Dept Paediat, Sivas, Turkey, Percin, Ferda -- 0000-0001-9317-8155, Gursoy, Ulvi Kahraman -- 0000-0002-1225-5751
Rok vydání:	2005
Předmět:	Chromosome Aberrations Adolescent Intelligence Gingiva Dwarfism Genes Recessive Syndrome facial dysmorphism Gingivectomy short stature Craniofacial Abnormalities Consanguinity hepatomegaly Intellectual Disability Humans Female Collagen gingival fibromatosis Fibromatosis Gingival Hepatomegaly
Zdroj:	Scopus-Elsevier Europe PubMed Central
ISSN:	1015-8146
Popis:	WOS: 000230547700007 PubMed ID: 16080296 Gingival fibromatosis, short stature, border-line IQ. facial dysmorphism and hepatomegaly. Gingival fibromatosis is a rare and benign disorder. The enlarged gingivae are firm and may Interfere with speech, closure of the lips, and mastication. We report a thirteen years old girl, with gingival fibromatosis referred to the periodontics clinics. Full mouth gingivectomy and gingivoplasty were performed. Medical investigation showed short stature, low-borderline IQ, facial dysmorphism. and hepatomegaly. Histological analysis revealed hyperplasia In the epithelial area and fibrotic appearance of gingival connective tissue with dense collagen fibre clusters. Pedigree analysis confirmed that mode of inheritance is autosomal recessive. According to the combination of clinical findings, this case report may represent a previously unreported syndrome.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::42a3d6068a520d38e98b1d253d7f40b3 https://pubmed.ncbi.nlm.nih.gov/16080296 Zobrazit plný text záznamu