Abnormal fetal ultrasound leading to the diagnosis of ADNP syndrome

We report a child who presented with intrauterine growth restriction, proportionate microcephaly, and an abnormal skull shape on fetal ultrasound. Whole exome sequencing performed on amniotic fluid cells showed a de novo pathogenic variant in the ADNP gene, corresponding to a diagnosis of ADNP syndrome.PMID:37758165 | DOI:10.1016/j.ejmg.2023.104855
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Source Type: research