The Coffin‐Lowry syndrome. Experience from four centres

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Abstract
The Coffin-Lowry syndrome is an established syndrome of mental retardation, a characteristic facies and skeletal anomalies. This paper describes 12 cases from 8 families and compares their findings with those of previously reported patients. The differential diagnosis is considered. Physical findings and pedigree data strongly support X-linked semidominant inheritance. The gene appears widely distributed and, as expected, a significant proportion of cases represent new mutations. The metacarpal-phalangeal profile or fingertip dermatoglyphics cannot be confirmed as useful diagnostic aids. Skin biopsy studies from 4 patients gave no evidence for a primary disorder of lysosomes or a degenerative disease. Caution is urged before assuming that such patients will all show intellectual deterioration.

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