The smith-lemli-opitz syndrome
- 1 January 1984
- journal article
- research article
- Published by Springer Nature in Virchows Archiv
- Vol. 404 (4) , 413-425
- https://doi.org/10.1007/bf00695225
Abstract
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.Keywords
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