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

Abstract excerpt

Rauch-Steindl syndrome (RAUST) is a rare developmental disorder caused by pathogenic variants in the NSD2 gene, typically characterised postnatally by microcephaly, growth restriction and developmental delay. We report the case of a fetus presenting at 24 weeks of gestation with severe microcephaly (head circumference<1 st centile), a transverse cerebellar diameter in the 20th centile, cystic changes in the...

Topics

• Humans
• Female
• Pregnancy
• Microcephaly
• Exome Sequencing
• Phenotype
• Fetal Growth Retardation