ZFIN Image: Liu et al., 2024, Fig. 5

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Figure Caption

Fig. 5 phenotypes of the patient with a premature stop codon of BEST1 gene (p.S79Ffs*153). (A–C) Sagittal magnetic resonance imaging (MRI) revealed Chiari malformation (cerebellar tonsil exceeding the foramen magnum, yellow line) and extensive syringomyelia (red stars) at cervical and thoracic segments. (D–G) Computed tomography and x-ray showed assimilation of atlas (arrow), basilar invagination (odontoid process above the chamberlian line, yellow dotted line), Klippel-Feil malformation (fusion of C5 and C6 vertebrae), butterfly vertebra at T12 (arrow head) and scoliosis. (H, I) MRI of the head indicated hydrocephalus (&) and microphthalmia (diameter of eyeball is smaller than 20 mm).

Acknowledgments

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