Severe Smith-lemli-opitz Syndrome With Prolonged Survival and Lipid Abnormalities
(1995) American Journal of Medical Genetics — Vol. 56, n° 3, p. 276-280 (1995)
Files
No attached file found for this publication.
Details
- Authors
- Abstract
- We have studied a girl with multiple congenital anomalies, growth and mental deficiency, characteristic facial anomalies, cataracts, cerebellar atrophy, and severe hypocholesterolemia. Death occurred at age 7 years. After excluding several syndromes, i.e., peroxisomal disorders, mevalonic acidaemia, and Marinesco-Sjogren syndrome, it is concluded that this girl had severe Smith-Lemli-Opitz Syndrome (SLOS) with exceptionally long survival. This diagnosis was confirmed through assay of 7-dehydrocholesterol in cultured fibroblasts. (C) 1995 Wiley-Liss, Inc.
- Affiliations
Citations
Pierquin, G., Peeters, P., Roels, F., Vamos, E., Brucher, J.-M., Tint, GS., Honda, A., & Vanregemorter, N. (1995). Severe Smith-lemli-opitz Syndrome With Prolonged Survival and Lipid Abnormalities. American Journal of Medical Genetics, 56(3), 276-280. https://doi.org/10.1002/ajmg.1320560308 (Original work published 1995)