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Early neurosurgical intervention in spondyloepiphyseal dysplasias

โœ Scribed by E. Al-Shail; A. Al-Odaib; P. T. Ozand


Publisher
Springer
Year
2005
Tongue
English
Weight
67 KB
Volume
22
Category
Article
ISSN
0256-7040

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## Abstract Xโ€linked spondyloepiphyseal dysplasia tarda (SEDT; MIM 313400) is a late onset progressive skeletal disorder, which manifests in childhood and is characterized by disproportionate short stature with a short trunk, barrel chest and absence of systemic complications. We found a singleโ€nuc

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## Abstract We present the case of an 8โ€yearโ€old female patient with bone dysplasia as part of Dyggveโ€Melchiorโ€Clausen syndrome (DMCS). MRI was used to evaluate the case. In the spine, odontoid apophysis aplasia was found with no ossification nucleus, vertebrae with central hump, disk protrusions,