Article
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.
BMC pregnancy and childbirth - 29 Jun 2021
Toscano Paolo, Di Meglio Lavinia, Lonardo Fortunato, Di Meglio Letizia, Mazzarelli Laura Letizia, Sica Carmine, Di Meglio Aniello
Abstract excerpt
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 ultrasound and a skeletal dysplasia with prevalent involvement of limb's rhizomelic tracts was suspected. Amniocentesis followed...
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