A Case of Coffin-Lowry Syndrome Represented Morphological Abnormalities in Oral and Facial Region.

概要

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Coffin-Lowry syndrome is a rare heritable disorder with a characteristic phenotype. A 16-year-old female was requested oral examination on suspicion of Coffin-Lowry syndrome due to her characteristic clinical features: mental retardation, growth disturbance, large soft hands, pectus carinatum, lax ligaments, hypertelorism, square prominent forehead, broad nasal bridge, thick nasal septum, thick prominent lips with a pouting lower lip, and large protruding ears. Radiological study of hands showed drumstic-shaped fingers. She also exhibited malocclusion, deep central lingual groove, short root of teeth, conical teeth, taurodontism, and congenital missing teeth. The final diagnosis was Coffin-Lowry syndrome based on the above findings.
特定非営利活動法人日本口腔科学会の論文