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?Baby rattle? pelvis dysplasia

✍ Scribed by Cormier-Daire, Val�rie ;Savarirayan, Ravi ;Lachman, Ralph S. ;Neidich, Julie A. ;Grace, Kim ;Rimoin, David L. ;Wilcox, William R.


Book ID
102698901
Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
660 KB
Volume
100
Category
Article
ISSN
0148-7299

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✦ Synopsis


We report an apparently previously undescribed lethal skeletal dysplasia, clinically resembling achondrogenesis, but with distinct radiologic and chondro-osseous morphologic features. These comprise bi®d distal ends of the long bones of the limbs, absent vertebral body ossi®cation, a unique ``baby rattle'' pelvic con®guration with tall and broad ilia, absent endochondral ossi®cation, regions of mesenchymal cells within the resting cartilage, and abnormal mesenchymal ossi®cation.


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