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J Pediatr Genet 2021; 10(01): 063-069
DOI: 10.1055/s-0040-1705095
Case Report

Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism

Desirée Deconte
1   Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
,
Elisa Pacheco Estima Correia
2   Graduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
,
Géssica Haubert
2   Graduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
,
Vinicius de Souza
2   Graduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
,
Jamile Dutra Correia
1   Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
,
Marcia Angelica Peter Maahs
3   Department of Speech Language Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
,
Paulo Ricardo Gazzola Zen
1   Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
4   Department of Clinical Medicine, Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre and Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, Brazil
,
Marilu Fiegenbaum
1   Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
5   Department of Basic Health Sciences, Human Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
,
Rafael Fabiano Machado Rosa
1   Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
4   Department of Clinical Medicine, Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre and Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, Brazil
› Author Affiliations Funding This work was funded by the Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES).
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Abstract

Cherubism is a rare genetic condition characterized by a bone nonneoplastic disease. We aimed to report a 6-year-old girl with cherubism presenting similar cases in the maternal family. However, her mother and grandmother seemed to be asymptomatic. The patient had an enlarged and asymmetric jaw with multiple enlarged cervical lymph nodes that increased in size with time. Sanger sequencing revealed a heterozygous mutation in exon 9 of SH3BP2 not only in the patient but also in her mother. Thus, we observed a variable expression and a probably reduced penetrance within the family, as well as unusual characteristics of the patient (in this case, the asymmetrical involvement of the jaw).

Keywords

cherubism - variable expressivity - asymmetry


Publication History

Received: 31 December 2019

Accepted: 23 January 2020

Article published online:
28 February 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
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