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: Jessica Rosenblum Lennart Van der Veeken Michael Aertsen Marije Meuwissen Anna C Jansen Source Type: research