Dominant craniometaphyseal dysplasia -a family study over five generations

A two month old male infant being investigated for nasal obstruction was noted to have the typical facies and radiological changes of craniometaphyseal dysplasia. Investigation of the family detected 9 individuals in 4 generations with radiological evidence of craniometaphyseal dysplasia. Their ages ranged from 2 months to 70 years. Three presented with nasal obstruction, one with facial nerve dysfunction and three had developed deafness in or before their third decade. Two were asymptomatic. One family member, now dead, was known to have had early onset of deafness but had not been examined or X-rayed. All of the affected individuals were noted to have had the typical facies in childhood. Characteristic radiological findings in the cranium and long bones were present to a varying degree and were most prominent in those presenting in infancy.