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.
(c) 2007 Wiley-Liss, Inc.