An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase (DHCR7), the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple congenital abnormalities, growth deficiency, and MENTAL RETARDATION.


Images

Figure 1

Figure 1
www.scielo.br

with SLO-<b>syndrome</b> and the

with SLO-syndrome and the
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Child with <b>Smith</b>-<b>Lemli</b>-<b>Opitz</b>

Child with Smith-Lemli-Opitz
emedicine.medscape.com

nejm199401133300205_f1.gif

nejm199401133300205_f1.gif
www.nejm.org

<b>Smith</b>-<b>Lemli</b>-<b>Opitz syndrome</b>

Smith-Lemli-Opitz syndrome
www.lookfordiagnosis.com

figure_MMJ_480_0.jpg

figure_MMJ_480_0.jpg
www.marmaramedicaljournal.org

<b>Smith</b>-<b>Lemli</b>-<b>Opitz syndrome</b>

Smith-Lemli-Opitz syndrome
www.greatplainslaboratory.com

<b>smith</b>-<b>lemli</b>-<b>opitz syndrome</b>

smith-lemli-opitz syndrome
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Dernière mise à jour: Septembre 2014