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
www.metagene.de

http://www.cmaj.ca/content/161

http://www.cmaj.ca/content/161
www.frambu.no

En donde las expectativas <b>de</b>

En donde las expectativas de
smithlemliopitz.blogspot.com

Figure: Facial features and

Figure: Facial features and
corticalchauvinism.com

bajos <b>de</b> colesterol y un

bajos de colesterol y un
doctorsmagazine.wordpress.com

Child with <b>Smith</b>-<b>Lemli</b>-<b>Opitz</b>

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

Picture 75, 3 months old

Picture 75, 3 months old
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Dernière mise à jour: Septembre 2014