Figure 1 Clinical features and pedigree

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Figure Pedigrees of the SCA42 families identified in this study

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Figure Pedigree of the family

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Figure 1 Family pedigree and MRI

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Figure 1 Pedigree and genetic findings

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Presentation transcript:

Figure 1 Clinical features and pedigree Clinical features and pedigree (A–D) Facial photographs of individuals II:1 and II:3 demonstrating facial weakness, slight ptosis, broad nasal tip, and in II:1, also slight retrognathia and some degree of epicanthus. (E–G and M) All 3 siblings had small hands with brachydactyly and short tapering fingers, with the thumbs situated proximally on the hands. (K) Individual II:1 also had camptodactyly. (H–J) They had small feet with short toes and sandal gap deformity. (I, J, and M) Individuals II:2 and II:3 appeared puffy on the dorsal aspects of the hands and feet. (L) Pedigree. Carola Hedberg-Oldfors et al. Neurol Genet 2018;4:e254 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.