Abstrakt

A female phenotype with coffin-lowry syndrome.

Amal Y Kentab

Coffin-Lowry Syndrome (CLS) is a rare X-linked semi-dominant syndromic genetic disorder that is typically diagnosed in childhood. It is caused by mutations in the RSK2 gene detected in up to 50% of cases. It characterized by moderate to severe psychomotor and growth retardation, characteristic facial features, skeletal deformities and tapering fingers in males. Females are usually much more mildly and variably affected thus more difficult to diagnose. The phenotype in affected females can include developmental differences, obesity, and characteristic facial and skeletal differences. The clinical and radiological findings observed in a 10 year old girl diagnosed with Coffin-Lowry syndrome is reported.