P782: Discordant prenatal and neonatal diagnosis in Kabuki syndrome

Genetics in Medicine Open 2026 Open access

Read full text
Authors: Rajeevi Madankumar, Kea Moncada, Jennifer Kidd
DOI: 10.1016/j.gimo.2026.104274
Cited by: 0

Abstract

The patient was counseled with the results and correlation with radiologic findings of Kabuki syndrome and the implications related to fetal development. She met with neonatologists and medical geneticists to assist the coordinating care for the rest of the pregnancy, delivery, and neonatal follow-up.

Fields of Study & Subjects

Prenatal Screening and Diagnostics Genomics and Rare Diseases Fetal and Pediatric Neurological Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104274–104274
Publication date
1 January 2026
Language
EN