Craniosynostosis in cherubism

Abstract

Cherubism is a rare autosomal dominant fibro-osseous disorder that affects almost exclusively maxilla and mandible. Extracranial skeletal involvement is rare. We report on three affected males in three generations. The youngest affected relative was examined at age 4 months. He also had craniosynostosis. His affected father and grandfather had cherubism and clubbing of the fingers. Cherubism was mapped to region 4p16. Because of the associated cranio-synostosis, we excluded the FGFR3 gene as a candidate gene for cherubism.

Querubismo, un caso clínico

“…De acuerdo a imágenes radiológicas y sintomatología similar el diagnóstico diferencial debe hacerse con la displasia fibrosa, granuloma de células gigantes, osteosarcoma, fibroma osificante juvenil, osteoma fibroso, quiste odontogénico e hiperparatirodismo 11 . La histopatología se caracteriza por la presencia de células osteoclásticas gigantes, diseminadas en tejido conectivo, con la presencia de células fusiformes y trabéculas osteoides bizarras 12 .…”

Cherubism: Review of four affected members in a Kuwaiti family

“…reported cherubism in a patient with craniosynostosis and clubbing of the fingers. 3 Symptoms and signs depend on the severity of the condition and range from mild to severe deformity of the jaws.…”

“…The affected jaw begins to swell in early childhood and increases until puberty after which it does not progress further. 3 In some cases the bone lesion regresses without treatment. 2 Clinical manifestations are variable with deforming lesions of the maxilla and mandible, including the coronoids and condyles.…”

A novel mutation in the SH3BP2 gene causes cherubism: case report

“…The WHO has classified cherubim as a non-neoplastic bone lesion. According to a latest literature search, there have been about 200 cases reported previously, including some sporadic cases [3]. …”