Abstract
The Smith-Lemli-Opitz syndrome (SLO) is an autosomal recessive disorder characterized by dysmorphic facial features with abnormal limbs and genitalia. Two forms have been recognized based on clinical course and severity: the classical SLO (type I) and the lethal acrodysgenital syndrome (type II). Type I SLO has been recently ascribed to a defect in cholesterol synthesis. Taking advantage of a series of seven patients including five type I and two type II SLO, we describe micrognathia, severe microcephaly, major ante and post natal growth retardation and feeding difficulties as consistent features in the disease. In addition, we give support to the presence of abnormal cholesterol levels in the lethal acrodysgenital syndrome but find no correlation between plasma sterol levels and the clinical severity of the disease.
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Abbreviations
- DHC :
-
Dehydrocholesterol
- SLO :
-
Smith-Lemli-Opitz Syndrome
References
Hoffman G, Charpentier C, Mayatepek E, Mancini J, Leischsenring M, Gibson M, et al (1993) Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics 91: 915–921
Irons M, Elias RE, Tint GS, Salen G, Frieden R, Buie T, Ampola M (1994) Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome. Report of clinical and biochemical findings in four patients and treatment in one patient. Am J Med Genet 50: 347–352
Lacombe D, Battin J (1993) Gonadal function in Smith-Lemli-Opitz syndrome. Am J Med Genet 45: 119
Le Merrer M, Briard ML, Girard S, Mulliez N, Moraine C, Imbert MC (1988) Lethal acrodysgenital dwarfism: a severe lethal condition ressembling Smith-Lemli-Opitz syndrome. J Med Genet 25: 88–95
Opitz JM, De La Cruz F (1994) Cholesterol metabolism in the RSH/Smith-Lemli-Opitz syndrome: summary of an NICHD Conference. Am J Med Genet 50: 326–338
Pankau R, Partsch CJ, Funda J, Sippell WG (1992) Hypothalamic-pituitary-gonadal function in two infants with Smith-Lemli-Opitz syndrome. Am J Med Genet 43: 513–516
Roux C (1964) Action tératogène du triparanol chez l'animal. Arch Fr Pediatr 4: 451–464
Roux C, Dupuis R, Horvath C, Giroud A (1979) Interpretation of isolated agenesia of the hypophisis. Teratology 191: 39
Roux C, Dupuis R, Horvath C, Talbot JN (1980) Teratogenic effect of an inhibitor of cholesterol synthesis (AY9944): correlation with maternal cholesterolemia. J Nutr 110: 2310
Smith DW, Lemli L, Opitz JM (1964) A newly recognized syndrome of multiple congenital anomalies. J Pediatr 64: 210–217
Tint GS, Irons M, Elias RE, Batta AK, Frieden R, Chen TS, Salen G (1994) Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome. N Engl J Med 330: 107–113
Tint GS, Salen G, Batta A, Shefer S, Irons M, Elias ER, et al (1995) Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome. J Pediatr 127: 82–87
Wallace M, Zori R, Alley T, Whidden E, Gray B, Williams C (1994) Smith-Lemli-Opitz syndrome in a female with a de novo balanced translocation involving 7q32: probable disruption of an SLOS gene. Am J Med Genet 50: 368–374
Warburg M, Bugge M, Brondum-Nielsen K (1995) Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus and developmental delay. J Med Genet 32: 19–24
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Cormier-Daire, V., Wolf, C., Munnich, A. et al. Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes. Eur J Pediatr 155, 656–659 (1996). https://doi.org/10.1007/BF01957147
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DOI: https://doi.org/10.1007/BF01957147