Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion.
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.
Shahdadpuri
Raveen
R
National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Republic of Ireland. raveenshahdadpuri@yahoo.com
de Vries
Bert
B
Pfundt
Rolph
R
de Leeuw
Nicole
N
Reardon
William
W
D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10; D002968:Clavicle / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008297:Male; D011542:Pseudarthrosis / Q000235:genetics*; D011859:Radiography; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging