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pubmed:abstractText |
We report on a previously undescribed form of skeletal dysplasia with rhizomelic, acromelic, and prominent mesomelic shortening, distal ulnar epiphyseal and pubic punctate calcifications (stippling), mega-epiphyses, platyspondyly, anterior beaking of the vertebrae, and sensorineural hearing loss. We compare this case to the other reported forms of skeletal dysplasias, particularly the mesomelic, acromesomelic, and mega-epiphyseal disorders.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Review,
Case Reports,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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