A Novel Association Between Mandibulofacial Dysostosis with Microcephaly and Congenital Diaphragmatic Hernia.
Katerina L Aris, Richard E Kirschner, Emily Hrach et al.
✦ AI-curated · Sources linked
Case in brief
A late-preterm female had multiple congenital malformations identified prenatally, including congenital diaphragmatic hernia (CDH). Postnatal genetic testing found a heterozygous de novo pathogenic variant in EFTUD2, establishing mandibulofacial dysostosis with microcephaly (MFDM). The report describes CDH in association with MFDM; the abstract does not provide further details about treatment or clinical outcome.
What made this case unusual
The notable finding was CDH in a patient with MFDM, an association the authors state had not previously been reported.
Diagnostic / clinical pearl
In a patient with multiple congenital malformations, postnatal identification of a pathogenic EFTUD2 variant can establish MFDM, including when CDH is present.