Prenatal diagnosis of a novel pathogenic variation in the ACAN gene presenting with isolated shortening of fetal long bones in the second trimester of gestation: a case report

• Main Authors: Paolo Toscano (Author), Lavinia Di Meglio (Author), Fortunato Lonardo (Author), Letizia Di Meglio (Author), Laura Letizia Mazzarelli (Author), Carmine Sica (Author), Aniello Di Meglio (Author)
• Formato: Livro
• Publicado em: BMC, 2021-06-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract Background Heterozygous mutations of the ACAN gene are a major cause of different evolutive growth defects in the pediatric population, but were never described as a cause of fetal skeletal dysplasia. Case presentation A G1 at 21w + 3d came to our institution for the second-trimester ultras...