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KMID : 0367419970400010117
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Journal of Korean Pediatric Society
1997 Volume.40 No. 1 p.117 ~ p.123
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A Case of Craniodiaphyseal Dysplasia
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김종은
김기민/김은정/김미봉/박기홍
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Abstract
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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.
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KEYWORD
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