Cranio-Metaphyseal Dysplasia (Report of 3 cases - two infants and one adult)

SUMMARY Two infants were investigated because of facial nerve palsy. Clinical examination suggested the diagnosis of cranio-metaphyseal dysplasia and radiographic examination was typical of this. The mother of one of the infants was affected along with three relatives. This bone dysplasia is characterised by sclerosis of the skull and abnormal modelling of the long bones often heralded by neurological complication. The radiographic features are typical.