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Article

Genetically confirmed coexistence of neurofibromatosis type 1 and Cherubism in a pediatric patient.

Molecular biology reports - 28 Jan 2024

Sarantou Sofia, Marinakis Nikolaos M, Traeger-Synodinos Joanne, Siomou Ekaterini, Ntinopoulos Argyrios, Serbis Anastasios

Abstract excerpt

BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder typified by various combination of numerous Café-au-lait macules, cutaneous and plexiform neurofibromas, freckling of inguinal or axillary region, optic glioma, Lisch nodules and osseous lesions. Cherubism is a rare genetic syndrome described by progressive swelling of the lower and/or upper jaw due to replacement of bone by fibrous...

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Identifiers

PMID: 38281202
DOI: 10.1007/s11033-024-09214-0
PMCID: PMC10822793

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