Rauch-Steindl syndrome: intrauterine phenotype and diagnostic utility of prenatal exome sequencing.
Cláudia Rijo, Ana Carocha, Inês Freire et al.
✦ AI-curated · Sources linked
Case in brief
A fetus at 24 weeks gestation was diagnosed with Rauch-Steindl syndrome, presenting with severe microcephaly, fetal growth restriction, and cystic changes in the temporal poles. Despite normal results from quantitative fluorescent PCR and microarray analysis, trio whole-exome sequencing revealed a pathogenic variant in the NSD2 gene. The pregnancy culminated in a live birth at 38 weeks, with the neonate exhibiting microcephaly and being small-for-gestational-age.
What made this case unusual
This case highlights the prenatal manifestation of Rauch-Steindl syndrome, expanding its phenotypic spectrum to include early-onset microcephaly and cystic brain changes.
Diagnostic / clinical pearl
Clinicians should consider the utility of prenatal exome sequencing in cases of severe microcephaly and growth restriction when standard genetic tests yield normal results.
Why it matters
Understanding the prenatal features of rare syndromes like Rauch-Steindl syndrome can aid in early diagnosis and management planning for affected pregnancies.