Anatomical variations linked to Primrose Syndrome: case report / Variações anatómicas ligadas à Síndrome de Prímula: relato de caso

Abstract

Primrose syndrome, also called Primrose Syndrome, is a unique autosomal dominant condition caused by heterozygous variants of the type missense in the ZBTB20 gene that lead to a rare genetic disorder. Its main features include an intellectual disability, typical facial properties, abnormalities of the callous body, and autistic features. Other frequent clinical associations include sensorineural hearing loss, hypotonia, macrocephaly, behavioral and dyslexic problems, and glucose metabolism disorders with insulin-resistant diabetes, and loss of distal muscle mass occurring in adulthood. The disorder is caused by functional dysregulation of ZBTB20, a transitional repressor that controls energy metabolism and development alums. We report the case of a man diagnosed with Primrose syndrome, emphasizing its main characteristics and anatomical variations. He is a 30-year-old Brazilian who has a phenotype similar to cases of Primrose syndrome, however, with additional characteristics of ectopic calcifications and progressive muscular and skeletal abnormalities. The work was approved by the Research Ethics Committee under the number 4.911.653.