Am J Med Genet A. 2008 Jan 15;146A(2):233-7.

Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion.

Shahdadpuri R, de Vries B, Pfundt R, de Leeuw N, Reardon W.

Source

National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Republic of Ireland. raveenshahdadpuri@yahoo.com

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.

PMID:: 18080323; [PubMed - indexed for MEDLINE]

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