Literature DB >> 1583713

Cherubism.

P A Marck1, W H Kudryk.   

Abstract

Cherubism is a rare inherited fibro-osseous disorder that affects the jaws, producing a characteristic facial appearance. Patients are normal at birth; however, by their second or third year of life they develop a fullness of the lower one half of their face and retraction of the lower eyelids that exposes a rim of sclera below the iris. The facial appearance is similar to a Renaissance cherub with its gaze toward heaven. A case of cherubism in a 19-year-old male, complicated by severe orbital compression resulting in diplopia, is presented. The patient was diagnosed at three years of age when he developed the characteristic cherub facies and severe dental anomalies that required surgical correction. At age 14, he underwent facial contouring surgery of his jaws. Orbital compression later developed due to lesions growing in the floor of his orbits. This was corrected by way of a subciliary approach to the orbit. The patient's facial appearance and visual function were markedly improved by the surgery. A review of the literature detailing this rare disease is discussed.

Entities:  

Mesh:

Year:  1992        PMID: 1583713

Source DB:  PubMed          Journal:  J Otolaryngol        ISSN: 0381-6605


  7 in total

1.  The gene for cherubism maps to chromosome 4p16.

Authors:  V Tiziani; E Reichenberger; C L Buzzo; S Niazi; N Fukai; M Stiller; H Peters; F M Salzano; C M Raposo do Amaral; B R Olsen
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

2.  The gene for cherubism maps to chromosome 4p16.3.

Authors:  J Mangion; N Rahman; S Edkins; R Barfoot; T Nguyen; A Sigurdsson; J V Townend; D R Fitzpatrick; A M Flanagan; M R Stratton
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

3.  Non-hereditary cherubism.

Authors:  Babita Niranjan; Nd Shashikiran; Shilpy Singla; Sowmya Kasetty
Journal:  J Oral Maxillofac Pathol       Date:  2014-01

4.  Cherubism: A Rare Fibro-Osseous Disorder Characterized and Diagnosed by one Stop Imaging with Technetium-99m Methylene Diphosphonate Bone Scintigraphy Integrated with Single-Photon Emission Computed Tomography-Computed Tomography.

Authors:  Jaykanth Amalachandran; Thangalakshmi Sivathapandi; Shelley Simon; Indirani Elangoven; Patel Asra; Nikita S Rao; Meetashree Nayak
Journal:  Indian J Nucl Med       Date:  2019 Jan-Mar

5.  Cherubism: a rare case report with literature review.

Authors:  A Lahfidi; W M Traore; I D Diallo; N Lrhorfi; S Elhaddad; N Allali; L Chat
Journal:  Radiol Case Rep       Date:  2022-08-16

6.  Clinical and radiological features of nonfamilial cherubism: A case report.

Authors:  Justyna Wagel; Klaudiusz Luczak; Barbara Hendrich; Maciej Guziński; Marek Sąsiadek
Journal:  Pol J Radiol       Date:  2012-07

7.  Orphan disease: Cherubism, optic atrophy, and short stature.

Authors:  Balaji Jeevanandham; Rajoo Ramachandran; Vignesh Dhanapal; Ilanchezhian Subramanian; Venkata Sai
Journal:  Indian J Radiol Imaging       Date:  2018 Jan-Mar
  7 in total

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