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Orbital involvement in cherubism.

A L Carroll1, T J Sullivan

  • 1Department of Ophthalmology, Royal Brisbane Hospital, Queensland, Australia.

Clinical & Experimental Ophthalmology
|March 29, 2001
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Summary
This summary is machine-generated.

Cherubism, a rare genetic disorder causing jaw lesions, can affect the eyes. This case highlights extensive orbital involvement and the need for ophthalmologists to recognize its ocular features.

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Area of Science:

  • Genetics
  • Ophthalmology
  • Oral and Maxillofacial Surgery

Background:

  • Cherubism is a rare, inherited disorder causing fibro-osseous lesions in the jaw.
  • Genetic linkage has recently been identified on chromosome 4p16.3.
  • Characteristic facial features include lower facial fullness and lower eyelid retraction.

Observation:

  • A case report details a 7-year-old girl with significant orbital involvement from cherubism.
  • The patient presented with bony lesions extending from the maxillary antrum into orbital structures.
  • Extensive extraperiosteal orbital involvement was noted.

Findings:

  • Orbital manifestations of cherubism can include lower lid retraction, proptosis, diplopia, globe displacement, and visual loss.
  • Optic atrophy can result from the disease progression.
  • Multidisciplinary surgical intervention was performed for the bony lesions.

Implications:

  • Ophthalmologists must be aware of cherubism and its potential ophthalmic complications.
  • Early recognition of ocular signs is crucial for timely management.
  • Comprehensive management requires a multidisciplinary approach involving various specialists.