ABNORMAL PROTEODERMATAN SULFATE IN THREE PATIENTS WITH 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...

A female phenotype with coffin-lowry syndrome

Coffin-Lowry syndrome (CLS, MIM # 303600) is a rare X-linked semi-dominant mental retardation disorder (XLMR). It was first reported independently by Coffin et al. [1] and Lowry et al. [2] and recognized as a novel syndrome of neurocognitive impairment, growth retardation, facial dysmorphism, puffy proximal digits, tapering digits and progressive skeletal changes by Temtamy et al. [3] in 1975. ...

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...

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...