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  • Title: Gingival fibromatosis, short stature, border-line IQ, facial dysmorphism and hepatomegaly.
    Author: Marakoglu I, Percin EF, Gursoy UK, Onarlioglu B, Ergur AT.
    Journal: Genet Couns; 2005; 16(2):161-5. PubMed ID: 16080296.
    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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