Orbital involvement in cherubism
- PMID: 11272784
- DOI: 10.1046/j.1442-9071.2001.00363.x
Orbital involvement in cherubism
Abstract
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.
Similar articles
-
Orbital involvement in cherubism.Ophthalmology. 2001 Oct;108(10):1884-8. doi: 10.1016/s0161-6420(01)00757-6. Ophthalmology. 2001. PMID: 11581066
-
Giant cell reparative granuloma of the orbit associated with cherubism.Ophthalmology. 2003 Sep;110(9):1846-9. doi: 10.1016/S0161-6420(03)00577-3. Ophthalmology. 2003. PMID: 13129888
-
[An ophthalmological complication of cherubism].Rev Stomatol Chir Maxillofac. 2007 Feb;108(1):58-60. doi: 10.1016/j.stomax.2006.03.003. Epub 2007 Jan 17. Rev Stomatol Chir Maxillofac. 2007. PMID: 17261320 French.
-
Cherubism: report of three cases and literature review.Orbit. 2015 Feb;34(1):33-7. doi: 10.3109/01676830.2014.950287. Epub 2014 Sep 29. Orbit. 2015. PMID: 25264591 Review.
-
Clinical and radiological evaluation of cherubism: a sporadic case report and review of the literature.Int J Pediatr Otorhinolaryngol. 2003 Sep;67(9):1005-12. doi: 10.1016/s0165-5876(03)00179-4. Int J Pediatr Otorhinolaryngol. 2003. PMID: 12907058 Review.
Cited by
-
Second-Generation SYK Inhibitor Entospletinib Ameliorates Fully Established Inflammation and Bone Destruction in the Cherubism Mouse Model.J Bone Miner Res. 2018 Aug;33(8):1513-1519. doi: 10.1002/jbmr.3449. Epub 2018 May 22. J Bone Miner Res. 2018. PMID: 29669173 Free PMC article.
-
Bone marrow transplantation improves autoinflammation and inflammatory bone loss in SH3BP2 knock-in cherubism mice.Bone. 2015 Feb;71:201-9. doi: 10.1016/j.bone.2014.10.021. Epub 2014 Oct 31. Bone. 2015. PMID: 25445458 Free PMC article.
-
Fibrous dysplasia and cherubism.Indian J Plast Surg. 2015 Sep-Dec;48(3):236-48. doi: 10.4103/0970-0358.173101. Indian J Plast Surg. 2015. PMID: 26933277 Free PMC article.
-
Clinicopathologic and Molecular Characteristics of Familial Cherubism with Associated Odontogenic Tumorous Proliferations.Head Neck Pathol. 2018 Mar;12(1):136-144. doi: 10.1007/s12105-017-0837-7. Epub 2017 Jul 18. Head Neck Pathol. 2018. PMID: 28721660 Free PMC article.
-
A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family: report of a family with review of the literature.Med Oral Patol Oral Cir Bucal. 2014 Jul 1;19(4):e340-4. doi: 10.4317/medoral.19496. Med Oral Patol Oral Cir Bucal. 2014. PMID: 24608212 Free PMC article. Review.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources