• Journal of Genetic Medicine
• /
• 제4권2호
• /
• pp.196-199
• /
• 2007

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.

• Journal of Interdisciplinary Genomics
• /
• 제2권1호
• /
• pp.10-12
• /
• 2020

Coffin-Lowry syndrome (CLS) is a genetic disorder characterized by intellectual disability, typical facial features, and skeletal abnormalities. But this syndrome shows highly variable clinical manifestations, and can't be diagnosed with conventional chromosome analysis or comparative genomic hybridization, leading to delayed diagnosis. Here we report an 18-year-old boy with CLS diagnosed by whole exome sequencing. Our patient initially presented with developmental delay, facial dysmorphism at the age of 1. At the age of 18, he developed orthopnea due to mitral regurgitation. At the 22 years of age, he was diagnosed as CLS diagnosed by whole exome sequencing. Our case implies that clinical suspicion is important for early diagnosis, and advanced diagnostic tools such as WES should be considered in suspected cases.