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

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 literatu...

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Principais autores:	Agostino Gaudio, Anastasia Xourafa, Rosario Rapisarda, Cristina Gorgone, Maria Gnoli, Elena Pedrini, Luca Sangiorgi, Antonino Catalano, Luca Zanoli, Teresa Mattina, Pietro Castellino
Formato:	Artigo
Idioma:	Inglês
Publicado:	Wiley 2021-02-01
Series:	Clinical Case Reports
Assuntos:	enostoses LEMD3 gene osteopoikilosis sclerosing bone dysplasia
Acceso en liña:	https://doi.org/10.1002/ccr3.3611
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