A Case of Craniodiaphyseal Dysplasia

ABSTRACT

Craniodiaphyseal dysplasia is a rare hereditary bone dysplasia, transmitted as autosomal recessive trait. This disorder is defined by Gorlin in 1969 as one of a family of severe bone disorders called "Craniotubular bone dysplasia", which is charaterized by massive and generalized hyperostosis and sclerosis, especially involving the skull facial bones. The major clinical features include marked craniofacial changes associated with bony overgrowth such as an enlarged head circumference, cranial nerve palsies and severe facial distortion. We experienced a case of craniodiaphyseal dysplasia in 2 year-9 month-old female patient who presented with typical clinical manifestation and radiologic findings nearly identical to those described by Gorlin. This is the first description of this rare disease in the Korean literature. Thus, we report a case of craniodiaphyseal dysplasia with brief related literature.