Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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A case of Coffin-Lowry syndrome

Coffin-Lowry 증후군 1례

  • Shin, Jung-Eun (Department of Pediatrics, College of Medicine, Soonchunhyang University) ;
  • Seo, Eun-Suk (Department of Pediatrics, College of Medicine, Soonchunhyang University) ;
  • Lee, Dong-Hwan (Department of Pediatrics, College of Medicine, Soonchunhyang University)
  • 신정은 (순천향대학교 의과대학 소아과학교실) ;
  • 서은숙 (순천향대학교 의과대학 소아과학교실) ;
  • 이동환 (순천향대학교 의과대학 소아과학교실)
  • Published : 2007.12.01
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Abstract

Coffin-Lowry syndrome (CLS) is a rare X-linked hereditary disorder characterized by moderate to severe mental retardation, facial dysmorphism, tapering fingers, and skeletal deformity. A 12-month-old boy was referred to our pediatric clinic for his developmental delay and seizure with fever. The boy exhibited a coarse facial appearance characterized by prominent, high-arched eyebrow, broad nose, downward palpebral fissure, high arched palate, hypodontia. The boy also showed finger tapering and puffy hand. Hypotonia, hyperextensible fingers and hypermobility of the joint were seen. Based on these findings, he was diagnosed as having Coffin-Lowry syndrome. We report a case of Coffin-Lowry syndrome with reference.

발달 지연과 발열과 동반된 경련으로 내원한 12개월 된 남자 환아로 뚜렷하며, 높은 아치를 이룬 눈썹과 넓은 코, 아래를 향하고 있는 눈꺼풀 틈새, 높은 구개, 치아 발육 부전의 특징을 보이는 얼굴 모습을 가졌으며, 통통한 손과, 과신전되며 점점 가늘어지는 손가락, 관절의 움직임이 증가되어있는 특징을 보였다. 이러한 특징에 근거하여 Coffin-Lowry 증후군으로 진단하였으며, 이에 저자들은 Coffin-Lowry 증후군 1례를 경험하여 보고한다.

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