PubMed · 4508730
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L Haisová, B Malypetrová. 1972. [Cherubism].. https://pubmed.ncbi.nlm.nih.gov/4508730/
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We describe an 8-year-old boy who presented with severe facial swelling. This progressed rapidly and 17 months later he died of gastrointestinal and pulmonary infections. The diagnosis was initially brown tumour associated with hyperparathyroidism, but this was revised in the light of laboratory investigations that were within the reference ranges, and normal appearance of the parathyroids on exploration to that of an extreme case of cherubism that behaved in a locally aggressive manner.
Cherubism is a rare, inherited condition characterized by fibro-osseous lesions of the maxilla and mandible. It has recently been localized to chromosome 4p16.3. The fullness of the lower half of the face and retraction of the lower lids gives the characteristic 'eyes raised to heaven' cherubic appearance. A case report of a 7-year-old girl with extensive orbital involvement of cherubism is presented. The patient underwent multidisciplinary surgery for the bony lesions, which extended from the maxillary antrum into adjacent structures, including extensive extraperiosteal orbital involvement. Cherubism may have orbital manifestations including lower lid retraction, proptosis, diplopia, globe displacement and visual loss due to optic atrophy. Ophthalmologists should be aware of the syndrome, its ophthalmic features and overall management.