Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry. F.B. Scalco, V.M. Cruzes, R.C. Vendramini, I.L. Brunetti and D. Moretti-Ferreira. Brazilian Journal of Medical and Biological Research, 36 (10): 1327, 2003.

Figure 1. Ultraviolet spectra of plasma extracts from 6 patients with clinical signs consistent with Smith-Lemli-Opitz syndrome (SLOS). SLOS diagnosis was confirmed in patients 1 and 2.