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

Shahdadpuri Raveen | Zendy; de Vries Bert | Zendy; Pfundt Rolph | Zendy; de Leeuw Nicole | Zendy; Reardon William | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Premium

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

Author(s) -

Shahdadpuri Raveen,

de Vries Bert,

Pfundt Rolph,

de Leeuw Nicole,

Reardon William

Publication year - 2007

Publication title -

american journal of medical genetics part a

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.064

H-Index - 112

eISSN - 1552-4833

pISSN - 1552-4825

DOI - 10.1002/ajmg.a.32088

Subject(s) - clavicle , skull , context (archaeology) , anatomy , chromosome , medicine , biology , genetics , gene , paleontology

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. © 2007 Wiley‐Liss, Inc.

This content is not available in your region!

Continue researching here.

Having issues? You can contact us here

Accelerating Research