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Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion
Published in:
Am J Med Genet A, Vol: 146A, Page: 233-7
Publication Date:
January 2008
Aims & Objectives:
This case report discusses 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
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.
Authors:
Study Type:
Study Papers » Case Report Study » Descriptive Studies - Without a comparision
Categories:
pseudoarthrosis
International Classification:
Diseases of the musculoskeletal system and connective tissue - Report
Keywords:
- Chromosome Deletion
- Chromosomes, Human, Pair 10
- Clavicle/ abnormalities
- Humans
- Infant
- Male
- Pseudarthrosis/ genetics
- Skull/ abnormalities/radiography
Geography:
Republic of Ireland (Dublin)