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

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.

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Clin Case Rep
Hauptverfasser: Gaudio, Agostino, Xourafa, Anastasia, Rapisarda, Rosario, Gorgone, Cristina, Gnoli, Maria, Pedrini, Elena, Sangiorgi, Luca, Catalano, Antonino, Zanoli, Luca, Mattina, Teresa, Castellino, Pietro
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2020
Schlagworte:
Case Reports
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7869386/
https://ncbi.nlm.nih.gov/pubmed/33598273
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.3611
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge