The Coffin-Lowry syndrome.

The Coffin-Lowry syndrome.

Coffin-Lowry Syndrome

Disease characteristics. Coffin-Lowry syndrome (CLS) is characterized by severe to profound mental retardation in males. Intellect ranges from normal to profoundly retarded in heterozygous females. The facial appearance is characteristic in the affected, older male child or adult. The hands are short, soft, and fleshy, often with remarkably hyperextensible fingers that taper from wide (proximal...

The movement disorders of Coffin-Lowry syndrome.

Coffin-Lowry syndrome (CLS) is an X-linked semi-dominant condition with learning difficulties and dysmorphism caused by mutations in the gene RSK2. Originally, epilepsy was reported as a feature. We and others have since described predominantly sound-startle induced drop attacks that have been labelled 'cataplexy', abnormal startle response and hyperekplexia. We sought to clarify why there shou...

Coffin-Lowry Syndrome: The First Molecularly Confirmed Report in Iran

Coffin-Lowry syndrome (CLS) is an X-linked disorder, which affects hemizygous males more severely than females. It is characterized by mental retardation, short stature, head and facial abnormalities, skeletal anomalies and developmental delays. The signs and symptoms vary in different people. We report a 14-year-old male patient, diagnosed with CLS based on his clinical features. Genetic testi...

Clinical Report Cardiomyopathy in Coffin–Lowry Syndrome

Jennifer J. Facher, Elizabeth J. Regier, Gretta H. Jacobs, Ernest Siwik, Jean-Pierre Delaunoy, and Nathaniel H. Robin* Center for Human Genetics, Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals of Cleveland, Cleveland, Ohio Department of Pathology, Case Western Reserve University School of Medicine, University Hospitals of Cleveland, Cleveland Oh...