Article
Exploring a cherubism bone phenotype outside the craniofacial region.
Orphanet journal of rare diseases - 11 Jun 2026
Morice Anne, Drabent Philippe, Thomasseau Sylvie, Joly Aline, Maruani Gérard, Piketty Marie, Brabant Séverine, Amiel Jeanne, Picard Arnaud, Kadlub Natacha, Coudert Amélie E
Abstract excerpt
Cherubism is a rare paediatric bone disease caused by gain-of-function mutations in the SH3BP2 gene. This condition is characterized by osteolysis of the jaw bone, which can be sometimes massive, whereby bone is replaced by fibrous tissue containing osteoclast-like multinucleated giant cells. Recently, a patient with a severe cherubism was reported to have, in addition to the craniofacial cherubism features, a...
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