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Figure 3 | Orphanet Journal of Rare Diseases

Figure 3

From: Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

Figure 3

Facial features of CASK -positive patients. A and B: patient 8 (1 year (A) and 4 years (B)). C: patient 7 (18 months). D: patient 12 (13 years). E: patient 9 (13 years). F: patient 4 (12 years). Note minor facial dysmorphism: round face, small chin, well-drawn eyebrows in the younger patients; longer face, high and large nasal bridge, long nose, protuding maxilla, in the older patients. Signed informed consent was obtained from the parents of the affected children for publication of the images.

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