J Genet Med.
2007 Dec;4(2):196-199.
A case of Coffin-Lowry syndrome
- Affiliations
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- 1Department of Pediatrics, College of Medicine, Soonchunhyang University, Seoul, Korea. ldh@hosp.sch.ac.kr
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.
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