Unusual Characteristics and Variable Expressivity in a Brazilian Family with Cherubism

Desirée Deconte; Elisa Pacheco Estima Correia; Géssica Haubert; Vinicius de Souza; Jamile Dutra Correia; Marcia Angelica Peter Maahs; Paulo Ricardo Gazzola Zen; Marilu Fiegenbaum; Rafael Fabiano Machado Rosa

doi:10.1055/s-0040-1705095

Journal of Pediatric Genetics, Inhaltsverzeichnis

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

¹Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil

,

Elisa Pacheco Estima Correia

²Graduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil

,

Géssica Haubert

²Graduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil

,

Vinicius de Souza

²Graduation in Medicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil

,

Jamile Dutra Correia

¹Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil

,

Marcia Angelica Peter Maahs

³Department of Speech Language Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil

,

Paulo Ricardo Gazzola Zen

¹Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil

⁴Department 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

¹Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil

⁵Department of Basic Health Sciences, Human Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil

,

Rafael Fabiano Machado Rosa

¹Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil

⁴Department 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

› Institutsangaben

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

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Referenzen

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