How is Smith Lemli Opitz Syndrome Diagnosed Histologically?
While the diagnosis of SLOS is primarily clinical and based on biochemical assays showing elevated levels of 7-DHC, histological examination can provide supportive evidence. Biopsy samples from affected tissues can reveal the characteristic histopathological changes outlined above. Electron microscopy may be used to observe ultrastructural abnormalities in cellular organelles, especially in neural and hepatic tissues.
