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. 2019 Oct 29;5(6):370. doi: 10.1212/NXG.0000000000000370

Figure 2. Cerebellar hypoplasia exists in telomere biology disorders at varying levels of severity.

Figure 2

(A) Seventeen-month-old boy with heterozygous pathogenic RTEL1 variant, severe bone marrow failure, microcephaly, severe neurodevelopmental disorder, and truncal ataxia. (B) Three-year-old affected brother of A with mild cytopenia, microcephaly, ataxia, and global neurodevelopmental and speech disorders. (C) Ten-year-old boy with pathogenic DKC1 variant. He had the mucocutaneous triad, microcephaly, esophageal and meatal strictures, incoordination, and progressive bone marrow failure needing treatment by age 10 years. (D) Normal cerebellum and mild prominence of cisterna magna in a 15-year-old girl with dyskeratosis congenita (DC) due to TERC pathogenic variant. (E) Normal size cerebellum and cisterna magna in a 3-year-old boy with DC due to TINF2 pathogenic variant. (F) Bilateral periventricular cystic leukomalacia adjacent to the ventricular trigones in a 6-year-old boy with TINF2 pathogenic variant. Arrow indicates cerebellar abnormalities.