Orphan disease: Cherubism, optic atrophy, and short stature

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Jeevanandham, Balaji; Ramachandran, Rajoo; Dhanapal, Vignesh; Subramanian, Ilanchezhian; Sai, Venkata;
  • Publisher: Wolters Kluwer Medknow Publications
  • Journal: Indian Journal of Radiology and Imaging,volume 28,issue 1,pages111-114 (issn: 0971-3026, eissn: 1998-3808)
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  • Related identifiers: doi: 10.4103/ijri.IJRI_203_17, pmc: PMC5894306
  • Subject: optic atrophy | Cherubism; fibrous dysplasia; optic atrophy; short stature | Cherubism | short stature | fibrous dysplasia | R895-920 | Paediatric Imaging | Medical physics. Medical radiology. Nuclear medicine
    mesheuropmc: eye diseases | genetic structures

A 12-year-old female presented with complaints of progressive visual impairment in both her eyes. On clinical examination, she was short for her age and her ophthalmoscopic examination revealed bilateral optic atrophy. Computed tomography of the patient revealed multipl... View more
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