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

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

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...

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Bibliographic Details
Main Authors: Paolo Toscano, Lavinia Di Meglio, Fortunato Lonardo, Letizia Di Meglio, Laura Letizia Mazzarelli, Carmine Sica, Aniello Di Meglio
Format: Article
Language:English
Published: BMC 2021-06-01
Series:BMC Pregnancy and Childbirth
Subjects:
Prenatal diagnosis
Skeletal dysplasia
ACAN
Aggrecan
Case report
Online Access:https://doi.org/10.1186/s12884-021-03952-w

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