Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion.
Am J Med Genet A
; 146A(2): 233-7, 2008 Jan 15.
Article
em En
| MEDLINE
| ID: mdl-18080323
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.
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Base de dados:
MEDLINE
Assunto principal:
Pseudoartrose
/
Crânio
/
Cromossomos Humanos Par 10
/
Deleção Cromossômica
/
Clavícula
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Ano de publicação:
2008
Tipo de documento:
Article