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. Author manuscript; available in PMC: 2023 Mar 1.
Published in final edited form as: Am J Med Genet A. 2021 Nov 23;188(3):735–750. doi: 10.1002/ajmg.a.62565

Figure 2. Pedigree and clinical phenotype of proband.

Figure 2.

a) Five generation family pedigree. b-e) Patient images showing severe hypotonia, facial and neck weakness, dysmorphic features (upturned nose, carp-shaped mouth, high forehead, low set ears, retrognathia), and musculoskeletal features (rocker-bottom feet, camptodactyly, and brachydactyly). F-g) Sagittal T1 MRI brain obtained at 9 months of age showing frontal cerebral atrophy with increased extra-axial spaces, thinning of the corpus callosum, and ventriculomegaly). h-j) Coronal T2 MRI images showing ventriculomegaly, cerebellar vermian dysgenesis, and right hemicerebellar dysgenesis. k-v) Sanger sequencing results, amino acid residue conservation, and absence of heterozygosity (AOH) block of CAPN3, MUSK, NAV2, and ZC4H2, respectively.