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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.