Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism

Clinical Features

Longman et al. (2003) reported 3 sibs, offspring of phenotypically normal first-cousin Pakistani parents, who were variably affected by craniosynostosis, calcification of the basal ganglia, and mild facial dysmorphism comprising prominent eyes and a prominent nasal bridge. The children had normal intelligence and no limb abnormalities.

Inheritance

Longman et al. (2003) suggested that the disorder in the sibs they reported was a novel autosomal recessive craniosynostosis syndrome.