publication . Article . 2018

Orphan disease: Cherubism, optic atrophy, and short stature

Balaji Jeevanandham; Rajoo Ramachandran; Vignesh Dhanapal; Ilanchezhian Subramanian; Venkata Sai;
Open Access
  • Published: 01 Jan 2018 Journal: Indian Journal of Radiology and Imaging, volume 28, page 111 (issn: 0971-3026, Copyright policy)
  • Publisher: Medknow
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 multiple expansile lytic lesions of mandible suggesting cherubism. The optic atrophy was confirmed on magnetic resonance imaging, which additionally revealed bilateral retrocerebellar arachnoid cysts. This association of cherubism with optic atrophy and short stature was grouped as orphan disease by National Institutes of Health and only one case was reported in the literature so far.
Medical Subject Headings: genetic structureseye diseases
free text keywords: Disease, Magnetic resonance imaging, medicine.diagnostic_test, medicine, Fibrous dysplasia, medicine.disease, Computed tomography, Atrophy, Pathology, medicine.medical_specialty, Short stature, medicine.symptom, Cherubism, Radiology, Physical examination, business.industry, business, Paediatric Imaging, optic atrophy, Cherubism; fibrous dysplasia; optic atrophy; short stature, Medical physics. Medical radiology. Nuclear medicine, R895-920
Related Organizations

Jones, WA. Familial multilocular cystic disease of the jaws. Am J Cancer. 1933; 17: 946-50

Mangion, J, Rahman, N, Edkins, S, Barfoot, R, Nguyen, T, Sigurdsson, A. The gene for cherubism maps to chromosome 4p16.3. Am J Hum Genet. 1999; 65: 151-7 [OpenAIRE] [PubMed]

Tiziani, V, Reichenberger, E, Buzzo, CL, Niazi, S, Fukai, N, Stiller, M. The gene for cherubism maps to chromosome 4p16. Am J Hum Genet. 1999; 65: 158-66 [OpenAIRE] [PubMed]

Cornelius, EA, McClendon, JL. Cherubism: Hereditary fibrous dysplasia of the jaws. Roentgenographic features. Am JRoentgenol. 1969; 106: 136-43

Bianchi, SD, Boccardi, A, Mela, F, Romagnoli, R. The computed tomographic appearances of cherubism. Skeletal Radiol. 1987; 16: 6-10 [OpenAIRE] [PubMed]

Ueki, Y, Tiziani, V, Santanna, C, Fukai, N, Maulik, C, Garfinkle, J. Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nat Genet. 2001; 28: 125-6 [PubMed]

Wagel, J, Łuczak, K, Hendrich, B, Guzinski, M, Sasiadek, M. Clinical and radiological features of nonfamilial cherubism. Pol J Radiol. 2012; 77: 53-7 [OpenAIRE] [PubMed]

Marck, PA, Kudryk, WH. Cherubism. J Otolaryngol. 1992; 21: 84-7 [PubMed]

Ozkan, Y, Varol, A, Turker, N, Aksakalli, N, Basa, S. Clinical and radiological evaluation of cherubism: A sporadic case report and review of the literature. Int J PediatrOtorhinolaryngol. 2003; 67: 1005-12 [OpenAIRE]

Carvalho Silva, E, Carvalho Silva, GC, Vieira, TC. Cherubism: Clinicoradiographic features, treatment, and long-term follow-up of 8 cases. J Oral Maxillofac Surg. 2007; 65: 517-22 [PubMed]

Roginsky, VV, Ivanov, AL, Ovtchinnikov, IA, Khonsari, RH. Familial cherubism: The experience of the Moscow Central Institute for Stomatology and Maxillo-Facial Surgery. Int J Oral Maxillofac Surg. 2009; 38: 218-23 [PubMed]

Martínez-Tello, FJ, Manjón-Luengo, P, Martin-Pérez, M, Montes-Moreno, S. Cherubism associated with neurofibromatosis type 1 and multiple osteolytic lesions of both femurs; a previously undescribed association of findings. Skeletal Radiol. 2005; 34: 793-8 [PubMed]

Neumann, TE, Allanson, JE, Kavamura, I, Kerr, B, Neri, G, Noonan, J. Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. Eur J Hum Genet. 2009; 17: 420-5 [OpenAIRE] [PubMed]

Slezak, R, Luczak, K, Kalscheuer, V, Neumann, TE, Sasiadek, MM. Noonan-like/multiple giant cell lesion syndrome in two adult patients with SOS1 gene mutations. ClinDysmorphol. 2010; 19: 157-60

Al-Gazali, LI, Khidr, A, PremChandran, JS. Cherubism, optic atrophy and short stature. ClinDysmorphol. 1993; 2: 140-1

Powered by OpenAIRE Open Research Graph
Any information missing or wrong?Report an Issue
publication . Article . 2018

Orphan disease: Cherubism, optic atrophy, and short stature

Balaji Jeevanandham; Rajoo Ramachandran; Vignesh Dhanapal; Ilanchezhian Subramanian; Venkata Sai;