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DOMINANTLY INHERITED DIGITO-TALAR DYSMORPHISM

J. G. Sallis 1; and Peter Beighton 2

1 Port Elizabeth
2 Department of Orthopaedic Surgery, University of the Witwatersrand, Johannesburg. Present appointment: Professor of Human Genetics, University of Cape Town.; Johannesburg, South Africa

1. A large Caucasian kindred in South Africa are affected by a previously undescribed inherited deformity of the hands and feet called digito-talar dysmorphism.

2. The principal features of digito-talar dysmorphism are flexion deformities, narrowing and ulnar deviation of the fingers. The thumb may be held in an abnormal position by a soft-tissue web. Rocker-bottom foot may develop, due to vertical talus. The facies is normal and the mentality is unimpaired.

3. The general health is good but orthopaedic measures may be needed for function and cosmesis.

4. The condition is transmitted as an autosomal dominant trait, with varying clinical expression of the abnormal gene.
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Hip, Knee, Trauma, Upper limb, Foot & Ankle, Paediatrics, Oncology, Spine, Arthroplasty, General