Related Experiment Videos
New syndromic entity of situs inversus totalis
M A Mubashir1, M A Sabry, S Farah
1Medical Rehabilitation Centre, Ministry of Social Affairs, Halifax, Canada.
Clinical Dysmorphology
|May 18, 1999
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.