Summary
An analysis of 33 autopsied cases with the Smith-Lemli-Opitz syndrome (including 8 cases from our practice) is presented. Polydactyly in dead SLOS children was found in 51% (17/33) of cases and occurred significantly more often in this group than in the whole group of SLOS (20–22%). Certain morphological differences in the type of renal, cerebral, pulmonary and pancreatic anomalies indicate the existence of two phenotypically similar SLOS: 1) with polydactyly; 2) without it. The presented data initiate SLOS heterogeneity.
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Cherstvoy, E.D., Lazjuk, G.I., Ostrovskaya, T.I. et al. The smith-lemli-opitz syndrome. Vichows Archiv A Pathol Anat 404, 413–425 (1984). https://doi.org/10.1007/BF00695225
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DOI: https://doi.org/10.1007/BF00695225