• Journal of Genetic Medicine
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• v.4 no.2
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• pp.196-199
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• 2007

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.

• Journal of Interdisciplinary Genomics
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• v.2 no.1
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• pp.10-12
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• 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.