Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome
. N Engl J Med 1994;330:107-13.
: Pathogenesis, diagnosis and management.
Normal Y sequences in Smith-Lemli-Opitz syndrome
with total failure of masculinization.
(SLOS; MIM 270400) is a neurodevelopmental disorder caused by inborn errors of cholesterol metabolism resulting from mutations in 7-dehydrocholesterol reductase (DHCR7) characterised by intellectual disability, CNS malformations (e.g., abnormalities in septum pellucidum and in corpus callosum, colpocephaly, arachnoid cysts, type I Chiari malformation), and multiple congenital anomalies and is possibly associated with adrenal insufficiency due to the impaired steroidogenesis [36, 37].
A case of the Smith-Lemli-Opitz syndrome
of multiple congenital anomalies in association with dysplasia epiphysialis punctata.
Termed Smith-Lemli-Opitz syndrome
, it is caused by a defect in a cholesterol-synthesizing enzyme.
Diagnosis of smith-lemli-opitz syndrome
from stored filter paper blood specimens.
(SLOS), a disorder caused by a defect in the cholesterol metabolic pathway, should be in the differential diagnosis for children presenting with autism, said Ellen Elias, M.D., director of the special care clinic of the Children's Hospital, Denver.
Tyler Charlie Roberts died in his sleep after being born with Smith-Lemli-Opitz syndrome
, which prevented his body producing cholesterol.
During the second trimester, the screening adds on checks for neural tube defects and Smith-Lemli-Opitz syndrome
, also known as 7-dehydrocholesterol reductase deficiency.
Doctors also thought baby Annie had Smith-Lemli-Opitz Syndrome
(SLOS), a rare genetic development disorder which affects many parts of the body.