Abstract
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.
