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

• Glavni autori: Paolo Toscano (Autor), Lavinia Di Meglio (Autor), Fortunato Lonardo (Autor), Letizia Di Meglio (Autor), Laura Letizia Mazzarelli (Autor), Carmine Sica (Autor), Aniello Di Meglio (Autor)
• Format: Knjiga
• Izdano: BMC, 2021-06-01T00:00:00Z.
• Teme: article
• Online pristup: 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...