A1 Refereed original research article in a scientific journal

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



Authors: Marakoglu I, Percin EF, Gursoy UK, Onarlioglu B, Ergur AT

Publisher: MEDECINE ET HYGIENE

Publication year: 2005

Journal: Genetic Counselling

Journal name in source: GENETIC COUNSELING

Journal acronym: GENET COUNSEL

Volume: 16

Issue: 2

First page : 161

Last page: 165

Number of pages: 5

ISSN: 1015-8146


Abstract
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.



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