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




TekijätMarakoglu I, Percin EF, Gursoy UK, Onarlioglu B, Ergur AT

KustantajaMEDECINE ET HYGIENE

Julkaisuvuosi2005

JournalGenetic Counselling

Tietokannassa oleva lehden nimiGENETIC COUNSELING

Lehden akronyymiGENET COUNSEL

Vuosikerta16

Numero2

Aloitussivu161

Lopetussivu165

Sivujen määrä5

ISSN1015-8146


Tiivistelmä
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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