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Case Reports
. 2012 May;18(2):235-7.
doi: 10.4103/0971-6866.100779.

Smith-Lemli-Opitz-syndrome

Rachana Gedam  1 , Ira Shah, Uma Ali, Alpana Ohri
Affiliations
Case Reports

Smith-Lemli-Opitz-syndrome

Rachana Gedam et al. Indian J Hum Genet. 2012 May.

Abstract

Smith-Lemli-Opitz syndrome is an autosomal recessively inherited disorder. A severe defect in cholesterol biosynthesis has been identified leading to abnormally low plasma cholesterol levels and elevated levels of the cholesterol precursor 7-dehydrocholesterol, the result of deficiency of 7-dehydrocholesterol reductase. We describe one such child with Smith-Lemli-Opitz syndrome. This child had clinical features similar to Smith-Lemli-Opitz syndrome like facial dysmorphism and cardiac and renal anomalies with failure to thrive.

Keywords: Atrial septal defect; cholesterol; hydronephrosis; polydactyly; smith lemli opitz syndrome.

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Conflict of interest statement

Conflict of Interest: None declared

Figures

Figure 1
Figure 1
Microcephaly, large and low-set ears, bulbous nose, retromicrognathia
Figure 2
Figure 2
Large forehead, hypertelorism, large and prominent philtrum
Figure 3
Figure 3
Polydactyly of right upper limb
Figure 4
Figure 4
Oligodactyly of left lower limb
See this image and copyright information in PMC

References

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