New syndromic entity of situs inversus totalis.
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.
D000015:Abnormalities, Multiple / Q000473:pathology; D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging; D005145:Face / Q000002:abnormalities; D005260:Female; D005532:Foot Deformities, Congenital / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D010641:Phenotype; D011859:Radiography; D012857:Situs Inversus / Q000473:pathology*; D013577:Syndrome