アブストラクト（18巻2号：The Bulletin of Kanagawa Dental College）

The Bulletin of Kanagawa Dental College

English

Title　： A Case Suggesting Coffin-Lowry Syndrome
Subtitle　： CASE REPORT
Authors　： Katsuo Iwasaki, Yukitaka Tamura, Keiko Nishimura, Nobuaki Sakai, Atsushi Miyagi*, Morio Higaki*
Authors（kana）　：
Organization　： Department of Dentistry for Special Patients, Kanagawa Dental College, *Department of Pediatric Dentistry, Kanagawa Dental College
Journal　： The Bulletin of Kanagawa Dental College
Volume　： 18
Number　： 2
Page　： 107-113
Year/Month　： 1990 / 9
Article　： Report
Publisher　： Kanagawa Odontological Society
Abstract　： [Introduction] Coffin-Lowry syndrome is recognized as an X-lined dominant abnormality with the characteristic phenotype. Many authors have reported cases with this syndrome since Coffin, G.S. presented the first case in 1966. There have been 24 cases with the syndrome reported in Japan: 3 cases by Namikawa, T. et al., 4 cases by Tonoki, H. et al., 2 cases by Oguchi, H. et al., and 15 cases by others. Every author has rarely referred to the odontostomatological findings of the syndrome but Oguchi et al. and Ikeda, M. et al. The main phenotype of this syndrome includes downward slanted palpebral fissures, hypertelorism, full lower lip, muscular hypotonia, scoliosis, general growth and mental retardation, etc. The authors experienced an institutionalized boy with mental retardation who had many characteristic conditions suggesting Coffin-Lowry syndrome which were found at the time of an oral examination in the institution. [Case Report] The case was an institutionalized boy of 16 years of age at the time of the first examination (May 5th 1983), and had dental caries, periodontitis, and extended missing of the teeth. 1. Family History: His parents were not intermarried.
Practice　： Dentistry
Keywords　： Coffin-Lowry Syndrome, Mental Retardation, X-linked Inheritance, Congenital Anomalies, Disorder of Tooth Eruption, Periodontitis