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Gingival fibromatosis, short stature, border-line IQ, facial dysmorphism and hepatomegaly.
Genet Couns. 2005; 16(2):161-5.GC

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.

Authors+Show Affiliations

Marakoglu I
Cumhuriyet University, Faculty of Dentistry, Department of Periodontology, Sivas, Turkey. imarak@cumhuriyet.edu.tr
Percin EF
No affiliation info available
Gursoy UK
No affiliation info available
Onarlioglu B
No affiliation info available
Ergur AT
No affiliation info available

MeSH

AdolescentChromosome AberrationsCollagenConsanguinityCraniofacial AbnormalitiesDwarfismFemaleFibromatosis, GingivalGenes, RecessiveGingivaGingivectomyHepatomegalyHumansIntellectual DisabilityIntelligenceSyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16080296

Citation

Marakoglu, I, et al. "Gingival Fibromatosis, Short Stature, Border-line IQ, Facial Dysmorphism and Hepatomegaly." Genetic Counseling (Geneva, Switzerland), vol. 16, no. 2, 2005, pp. 161-5.
Marakoglu I, Percin EF, Gursoy UK, et al. Gingival fibromatosis, short stature, border-line IQ, facial dysmorphism and hepatomegaly. Genet Couns. 2005;16(2):161-5.
Marakoglu, I., Percin, E. F., Gursoy, U. K., Onarlioglu, B., & Ergur, A. T. (2005). Gingival fibromatosis, short stature, border-line IQ, facial dysmorphism and hepatomegaly. Genetic Counseling (Geneva, Switzerland), 16(2), 161-5.
Marakoglu I, et al. Gingival Fibromatosis, Short Stature, Border-line IQ, Facial Dysmorphism and Hepatomegaly. Genet Couns. 2005;16(2):161-5. PubMed PMID: 16080296.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Gingival fibromatosis, short stature, border-line IQ, facial dysmorphism and hepatomegaly. AU - Marakoglu,I, AU - Percin,E F, AU - Gursoy,U K, AU - Onarlioglu,B, AU - Ergur,A T, PY - 2005/8/6/pubmed PY - 2006/1/13/medline PY - 2005/8/6/entrez SP - 161 EP - 5 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 16 IS - 2 N2 - 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. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/16080296/Gingival_fibromatosis_short_stature_border_line_IQ_facial_dysmorphism_and_hepatomegaly_ DB - PRIME DP - Unbound Medicine ER -