"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome.

"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome.

The Coffin-Lowry syndrome is a rare cause of mental retardation recognised by its distinctive facial and digital features. We have observed an unusual, non-epileptic, cataplexy-like phenomenon in three subjects with the syndrome and we speculate that this feature may go unrecognised. We also provide evidence of neuromuscular dysfunction as part of the phenotype by showing abnormalities on muscl...

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...

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...

Coffin-Lowry syndrome: clinical and molecular features.

The Coffin-Lowry syndrome (CLS) is a rare X linked disorder in which affected males show severe mental retardation with characteristic dysmorphism, most notably affecting the face and hands. The typical facial features consist of a prominent forehead, hypertelorism, a flat nasal bridge, downward sloping palpebral fissures, and a wide mouth with full lips. Mild progression in facial coarsening o...