New syndromic entity of situs inversus totalis. |
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| Authors: | M A Mubashir M A Sabry S Farah N Haseeb B Quasrawi W al-Busairi R al-Dabbous S A al-Awadi T I Farag |
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| Institution: | Medical Rehabilitation Centre, Ministry of Social Affairs, Halifax, Canada. |
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| Abstract: | A 22-year-old Bedouin female with MCA/MR has been recently ascertained. She showed profound mental retardation, proportionate short stature, facial dysmorphism, spastic quadreparesis, bilateral taliper equinovarus, brachydactyly, situs inversus totalis, and MRI findings of cerebellar/midbrain migration defects. The described phenotype represents a new syndromic situs inversus with a characteristic Facio-Cerebro-Skeleto-Cardiac phenotype. |
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