Author

A. Martins

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Case report Sep 2026

Rauch-Steindl syndrome: intrauterine phenotype and diagnostic utility of prenatal exome sequencing.

The case of a fetus presenting at 24 weeks of gestation with severe microcephaly, a transverse cerebellar diameter in the 20th centile, cystic changes in the temporal poles and fetal growth restriction is reported.

C. Rijo, A. Carocha, Inês Freire et al. · BMJ Case Reports · 0 citations