Early clinical signs in Coffin-Lowry syndrome.
Two unrelated patients with Coffin-Lowry syndrome are described. The main characteristics of a typical face, thick hands with tapering fingers and a transverse hypothenar crease, general hypotonia with extensible joints made diagnosis possible before the age of 6 months. A persistent large anterior fontanel beyond the age of two years may be another associated finding. Retarded bone age, coarsity of the face and skeletal malformations considered characteristic in adult patients were not present. Early recognition of Coffin-Lowry syndrome is important for genetic counseling and prevention of severe skeletal malformations.
D000015:Abnormalities, Multiple / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D013577:Syndrome; D014960:X Chromosome