Figure 1 Clinical features and muscle MRI in MYMK-related Carey-Fineman-Ziter syndrome Clinical features and muscle MRI in MYMK-related Carey-Fineman-Ziter.

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Presentation transcript:

Figure 1 Clinical features and muscle MRI in MYMK-related Carey-Fineman-Ziter syndrome Clinical features and muscle MRI in MYMK-related Carey-Fineman-Ziter syndrome (A.a and A.b) Front and profile facial photographs demonstrating lagophthalmos (A.a, patient attempting lid closure), muscle hypoplasia, retrognathia, and broad nasal tip. (A.c and A.d) Wasting of intrinsic hand muscles and contracture deformities of the right little finger and the toes. (A.e, A.f) Scoliosis (A.e) and generalized muscle atrophy with pectoralis muscle hypoplasia (A.f). (B) T2-weighted MRIs of the thighs (B.a) showing severe fatty replacement of hamstrings, thigh adductors, and sartorius muscles, with relative sparing of the gracilis and quadriceps muscles bilaterally, and of the calves (B.b) showing asymmetric involvement with more marked fatty replacement in muscle of the right leg. Gastrocnemius and soleus muscles are severely affected, and the tibialis anterior on the right is relatively spared. Hadil Alrohaif et al. Neurol Genet 2018;4:e226 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.