Tatton-Brown-Rahman Syndrome: A Report of a Case with a Novel DNMT3A Mutation Presented Hemihypertrophy
Soonchunhyang Medical Science
;
: 26-28, 2023.
Artigo
em Inglês
| WPRIM
| ID: wpr-1002837
ABSTRACT
Tatton-Brown-Rahman syndrome (TBRS) is a relatively new congenital anomaly syndrome manifesting overgrowth and a broad spectrum of intellectual disability. It is caused by pathogenic variants in the DNA methyltransferase 3 alpha (DNMT3A) gene, mainly de novo inheritance. Overgrowth, mild-to-severe intellectual disability, and other clinical features of TBRS may affect the quality of life of patients and their family members. Thus, early diagnosis by genetic testing and management of these symptoms is critical. We report a case of a 17-year-old male patient with hemihypertrophy who suffered back pain since school age, diagnosed with TBRS-identified DNMT3A gene mutation.
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Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Inglês
Revista:
Soonchunhyang Medical Science
Ano de publicação:
2023
Tipo de documento:
Artigo
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