PMC8114604_01
Cranial MRI shows pachygyria, incomplete lissencephaly and cerebellar hypoplasia
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Cranial MRI revealed pachygyria, incomplete lissencephaly and cerebellar hypoplasia (Figure 1).
Molecular analysis presenting MOCS1 mutation, p.R73W in Integrative Genomics Viewer - IGV  software result
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MOCS1, MOCS2, sulphite oxidase gene mutations, and chromosomal analysis were performed. Molecular analysis revealed a MOCS1 mutation, p.R73W in the Integrative Genomics Viewer - IGV  software (Figure 2).
Pyloric wall was 6.5 mm, double wall thickness of 14 mm and 3 cm in vertical axis
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The baby had projectile vomiting when he was aged 45 days and further examinations revealed the thickness of the pyloric wall was 6.5 mm and double-wall thickness (14 mm) and 3 cm in the vertical axis (Figure 3).