Osteoglophonic dysplasia: a case report

We report a rare case of osteoglophonic dysplasia affecting father and daughter. Osteoglophonic dysplasia is a very rare skeletal dysplasia with craniosynostosis, multiple radiolucencies of bone and clinical anodontia. It is an autosomal dominant disorder characterised by short stature. The affected children have normal intelligence. Close association with missense mutation of Fibroblast Growth Factor receptor-1 has been reported. Life expectancy depends on the degree of cranial malformation. In previous reports, bone defects usually resolved by adulthood, but multiple tooth impaction may cause aesthetic and masticatory problems. Cytogenetic studies and routine laboratory tests were all within normal limits.