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 literature.

SUBMITTER: Gaudio A 

PROVIDER: S-EPMC7869386 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature