Patterson-Stevenson-Fontaine Syndrome

Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.

Epidemiology

It has been described in less of ten patients.

Clinical description

The mandibulofacial dysostosis consists of retrognathism, complete or occult posterior cleft palate, and anomalies of the external ears. Limb anomalies consist of split-foot deformity with syndactyly of some toes.

Genetic counseling

The condition is transmitted as an autosomal dominant trait with variable penetrance and expressivity.