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Figures
Figure 1. Cutaneous Y-syndactyly of the second and third toes and "fork-toe" appearance characteristic of Smith-Lemli-Opitz syndrome (SLOS).
Figure 2. Diagnostic approach to mental retardation. *Investigations based on recommendations of Curry and associates. [31] [dagger] Urine metabolic screen may include qualitative detection of reducing substances, ketones, thiosulfite, branched chain amino acids, tyrosine, disulfides and other tests.
Figure 3. Two brothers with facial features typical of SLOS: ptosis, epicanthal folds, small chin and short nose. The facial features are more pronounced in the younger brother (right).
Figure 4. A cousin of the 2 brothers at 5 years of age. Facial changes are subtle; however, retrognathia and low-set ears are noticeable.
Tables
Table 1. Clinical indications for 7-dehydrocholesterol measurement in diagnostic testing for Smith-Lemli-Opitz syndrome (SLOS)
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