Presentation is loading. Please wait.

Presentation is loading. Please wait.

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.

Published byBartholomew Richards Modified over 5 years ago

Similar presentations

Presentation on theme: "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."— Presentation transcript:

1 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.

Download ppt "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."

Similar presentations

Figure Pedigrees of the SCA42 families identified in this study

Figure Pedigrees of the SCA42 families identified in this study
Figure EDSS, FS scores, and Modified MSFC scores

Figure EDSS, FS scores, and Modified MSFC scores
Figure 2 Sanger sequencing, conservation, and summary of known ACO2 mutations Sanger sequencing, conservation, and summary of known ACO2 mutations (A)

Figure 2 Sanger sequencing, conservation, and summary of known ACO2 mutations Sanger sequencing, conservation, and summary of known ACO2 mutations (A)
Figure 1 Summary of prior diagnostic workup in neuromuscular disorder cases Summary of prior diagnostic workup in neuromuscular disorder cases Percentage.

Figure 1 Summary of prior diagnostic workup in neuromuscular disorder cases Summary of prior diagnostic workup in neuromuscular disorder cases Percentage.
Figure Genomic and facial overview of the microduplications overlapping the GRIN2D gene found in the retrieved patients Genomic and facial overview of.

Figure Genomic and facial overview of the microduplications overlapping the GRIN2D gene found in the retrieved patients Genomic and facial overview of.
Figure Family pedigree and clinical improvement with riboflavin treatment Family pedigree and clinical improvement with riboflavin treatment (A) The proband.

Figure Family pedigree and clinical improvement with riboflavin treatment Family pedigree and clinical improvement with riboflavin treatment (A) The proband.
Figure 3 Pedigree of familial idiopathic transverse myelitis

Figure 3 Pedigree of familial idiopathic transverse myelitis
Figure 1 Box plot of the venous diameter in lesions

Figure 1 Box plot of the venous diameter in lesions
Figure 1 Brain MRI findings in the present case

Figure 1 Brain MRI findings in the present case
Figure 2 Needle biopsy of the left vastus lateralis

Figure 2 Needle biopsy of the left vastus lateralis
Figure 1 Coronal MRI images showing the evolution of white matter abnormality and atrophy of patient 1 Coronal MRI images showing the evolution of white.

Figure 1 Coronal MRI images showing the evolution of white matter abnormality and atrophy of patient 1 Coronal MRI images showing the evolution of white.
Figure 2 Disease progression slowed during each round of Treg infusions and correlated with increased Treg suppressive function Disease progression slowed.

Figure 2 Disease progression slowed during each round of Treg infusions and correlated with increased Treg suppressive function Disease progression slowed.
Figure 1 Hierarchical clustering (HCL) outcome of all tested samples with the expression profile of the case report set as unknown Hierarchical clustering.

Figure 1 Hierarchical clustering (HCL) outcome of all tested samples with the expression profile of the case report set as unknown Hierarchical clustering.
Figure Facial photograph during headache attack and brain and upper cervical cord MRI Facial photograph during headache attack and brain and upper cervical.

Figure Facial photograph during headache attack and brain and upper cervical cord MRI Facial photograph during headache attack and brain and upper cervical.
Figure 2 Anti-LINGO-1 (Li81) does not affect cytokine production

Figure 2 Anti-LINGO-1 (Li81) does not affect cytokine production
Figure 1 Spine MRI, sagittal and axial views of patients with idiopathic transverse myelitis with VPS37A mutations Spine MRI, sagittal and axial views.

Figure 1 Spine MRI, sagittal and axial views of patients with idiopathic transverse myelitis with VPS37A mutations Spine MRI, sagittal and axial views.
Figure 2 Neurochemical profiles for each neurocognitive trajectory

Figure 2 Neurochemical profiles for each neurocognitive trajectory
Figure Pedigree of the family

Figure Pedigree of the family
Figure 1 ERG peak time delay at baseline

Figure 1 ERG peak time delay at baseline
Figure 3 Molecular genetics

Figure 3 Molecular genetics

Similar presentations

Ads by Google