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cleidocranial dysplasia  a rare autosomal dominant disorder in which there is defective ossification of the cranial bones, with large fontanelles and delayed closing of the sutures; complete or partial absence of the clavicles, so that the shoulders may be brought together, or nearly together, in front; wide pubic symphysis; short middle phalanges of the fifth fingers; and dental and vertebral anomalies. It is caused by mutation in a gene on chromosome 6p encoding an osteoblast-specific transcription factor. An autosomal recessive form has also been observed. Called also cleidocranial dysostosis.




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