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

• Hoofdauteurs: Paolo Toscano (Auteur), Lavinia Di Meglio (Auteur), Fortunato Lonardo (Auteur), Letizia Di Meglio (Auteur), Laura Letizia Mazzarelli (Auteur), Carmine Sica (Auteur), Aniello Di Meglio (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2021-06-01T00:00:00Z.
• Onderwerpen: article
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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...