Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion
- 13 December 2007
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 146A (2), 233-237
- https://doi.org/10.1002/ajmg.a.32088
Abstract
Congenital pseudoarthrosis of the clavicle (CPC) has been described in several genetic conditions including Floating–Harbor and Goltz syndromes, but rarely as a prompt to specific cytogenetic abnormalities. We report on a case of a de novo 10p11.21p12.1 microdeletion in a boy with multiple problems including a beaten copper appearance of the cranium on skull X‐ray and pseudoarthrosis of the right clavicle. This is the first description of these particular skeletal findings in the context of a chromosome 10p deletion.Keywords
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