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Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature

Authors :
Agostino Gaudio
Anastasia Xourafa
Rosario Rapisarda
Cristina Gorgone
Maria Gnoli
Elena Pedrini
Luca Sangiorgi
Antonino Catalano
Luca Zanoli
Teresa Mattina
Pietro Castellino
Source :
Clinical Case Reports, Vol 9, Iss 2, Pp 922-926 (2021)
Publication Year :
2021
Publisher :
Wiley, 2021.

Abstract

Abstract Osteopoikilosis (OP) is a rare autosomal dominant sclerosing bone disease, caused by heterozygous mutations in the LEMD3 gene. It is characterised by numerous focal lamellar bone compact deposits in the spongiosa. In this case report, we describe a famliar case of OP and review the literature.

Details

Language :
English
ISSN :
20500904
Volume :
9
Issue :
2
Database :
Directory of Open Access Journals
Journal :
Clinical Case Reports
Publication Type :
Academic Journal
Accession number :
edsdoj.9186c2c2214b18993fcdac481bb25d
Document Type :
article
Full Text :
https://doi.org/10.1002/ccr3.3611