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Volume 91 - July 1977

Contents

Page 5 of 8

Research Article

Clinical records

  • Craniometaphyseal dysplasia

  • F. W. Martin
  • Published online by Cambridge University Press:
    29 June 2007, pp. 159-170

  • A case report of craniometaphyseal dysplasia is presented with a classification of this disease, supported by a review of the literature. Certain unusual features are observed—mastoid surgery and later contralateral temporary facial paresis. The patient showed no further deterioration of symptoms when last reviewed.

    Craniometaphyseal dysplasia is one of a number of craniotubular bony dysplasias. These dysplasias are characterized by (a) genetic transmission and (b) dysplastic or hyperostotic involvement of the cranial and tubular bones (Gorlin, et al., 1969). Craniometaphyseal dysplasia may be dominant or recessive in form, the latter being more severe in its clinical manifestations, viz. nasal obstruction and deformity and cranial nerve palsies, such as optic atrophy and loss of hearing. There may also be enlargement of the mandible and flaring of the metaphyses of long bones on X-ray examination.

Page 5 of 8