RESUMO
Short stature, hearing loss, retinitis pigmentosa, and distinctive facies (SHRF) Syndrome is a syndrome recently identified among three German patients. Clinical characteristics include eye disease, sensorineural hearing loss, distinct facial and phalangeal features, short stature, developmental delay, and cerebellar atrophy. In this case report, we discuss a fourth identified patient with genomic mutations in the EXOSC2 gene which codes for a cap protein in the RNA exosome. Whole exome sequencing identified two mutations of unknown clinical significance including: a heterozygous maternal variant, missense mutation NM_014285.7: c427G>A (p.Ala143Thr) in exon 6 and a heterozygous paternal variant, splice donor NM_014285.5: c.801+1G>A in intron 8. Our patient demonstrates a novel clinical presentation within the SHRF disease spectrum.