Intestinal aganglionosis in the Smith-Lemli-Opitz syndrome.
ABSTRACT . Two unrelated cases with clinical and autopsy findings of the Smith-Lemli-Opitz syndrome are described. Narrowing of the terminal ileum and congenital intestinal aganglionosis was found in both. This is a rare association and the importance of microscopic examination of the intestine in cases of the Smith-Lemli-Opitz syndrome is emphasized.
American Journal of Medical Genetics 11/1987; 28(3):745-50. DOI:10.1002/ajmg.1320280324 · 3.23 Impact Factor
Journal of Medical Genetics 04/1987; 24(3):185-6. DOI:10.1136/jmg.24.3.185 · 5.64 Impact Factor
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ABSTRACT: We report eight cases of a lethal association of failure to thrive, facial dysmorphism, ambiguous genitalia, syndactyly, postaxial polydactyly, and internal developmental anomalies (Hirschsprung's disease, cardiac and renal malformation). This syndrome is likely to be autosomal recessive and resembles Smith-Lemli-Opitz (SLO) syndrome. However, the lethality, the common occurrence of polydactyly, and the sexual ambiguity distinguishes this condition from SLO syndrome. A review of published reports supports the separate classification of this syndrome for which we propose the name lethal acrodysgenital dwarfism.Journal of Medical Genetics 03/1988; 25(2):88-95. DOI:10.1136/jmg.25.2.88 · 5.64 Impact Factor