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About 288 results

ALLMedicine™ Smith-Lemli-Opitz Syndrome Center

Research & Reviews  107 results

Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism
https://clinicaltrials.gov/ct2/show/NCT05047354

May 20th, 2022 - Study Description: The objective of this study is to characterize the natural history of Smith-Lemli-Opitz Syndrome (SLOS) and related disorders (such as lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia punctata (CDPX2), CHILD ...

Measurement of 7-dehydrocholesterol and cholesterol in hair can be used in the diagnosi...
https://doi.org/10.1016/j.jlr.2022.100228
Journal of Lipid Research; Luo Y, Zhang C et. al.

May 17th, 2022 - 7-dehydrocholesterol (7-DHC) and cholesterol (CHOL) are biomarkers of Smith-Lemli-Opitz Syndrome (SLOS), a congenital autosomal recessive disorder characterized by elevated 7-DHC level in patients. Hair samples have been shown to have great diagno...

Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-co...
https://doi.org/10.1016/j.ejmg.2022.104426
European Journal of Medical Genetics; Orlov IE, Laidus TA et. al.

Jan 14th, 2022 - Whole exome sequencing (WES) is a powerful tool for the cataloguing of population-specific genetic diseases. Within this proof-of-concept study we evaluated whether analysis of a small number of individual exomes is capable of identifying recurren...

Intellectual Disability Workup
http://emedicine.medscape.com/article/1180709-workup

Nov 16th, 2021 - Laboratory Studies The examiner must determine the nature and extent of the laboratory investigation following a history and physical examination. Recommendations have been made by both the American Academy of Pediatrics [24] and the American Acad...

Isolated autism is not an indication for Smith-Lemli-Opitz syndrome biochemical testing.
https://doi.org/10.1111/jpc.15795
Journal of Paediatrics and Child Health; Kaub PA, Sharp PC et. al.

Nov 14th, 2021 - Several studies have demonstrated a high incidence of autistic spectrum features in individuals with Smith-Lemli-Opitz syndrome (SLOS). However, do these findings imply a converse relationship that has diagnostic utility? Is SLOS testing implicate...

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Clinicaltrials.gov  5 results

Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism
https://clinicaltrials.gov/ct2/show/NCT05047354

May 20th, 2022 - Study Description: The objective of this study is to characterize the natural history of Smith-Lemli-Opitz Syndrome (SLOS) and related disorders (such as lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia punctata (CDPX2), CHILD ...

A Long-Term Study of Cholesterol Supplements for Smith-Lemli-Opitz Syndrome
https://clinicaltrials.gov/ct2/show/NCT01413425

Jul 2nd, 2017 - The purpose of this study is to learn as much as possible about Smith-Lemli-Opitz Syndrome (SLOS) by following a large group of individuals with SLOS over a period of time. We plan to measure cholesterol and other sterol levels, perform clinical o...

Simvastatin Therapy in Smith-Lemli-Opitz Syndrome
https://clinicaltrials.gov/ct2/show/NCT00064792

Jun 6th, 2014 - Smith-Lemli-Opitz syndrome (SLOS, RSH, OMIM #270400) is an autosomal recessive, multiple malformation, mental retardation syndrome due to an inborn error of cholesterol biosynthesis. Specifically, these patients have a deficiency of 3 beta-hydroxy...

Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans
https://clinicaltrials.gov/ct2/show/NCT00017732

Mar 4th, 2008 - RSH/Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital anomaly/mental retardation syndrome caused by inborn error of cholesterol metabolism (Tint et al. 1994; Opitz 1999; Kelley 2000). Recent studies have shown SLOS to be one of the most c...

Prenatal Screening For Smith-Lemli-Opitz Syndrome
https://clinicaltrials.gov/ct2/show/NCT00070850

Jul 2nd, 2007 - SLOS is an inherited metabolic disorder characterized by moderate to severe mental retardation and congenital anomalies. SLOS is caused by a deficiency of the enzyme 7-dehydrocholesterol reductase and the resulting defect in the conversion of 7-de...

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News  3 results

Universal carrier screening
https://www.mdedge.com/familymedicine/article/78608/universal-carrier-screening/page/0/1
Family Practice News;

Oct 31st, 2013 - Across all ethnic groups, the most common carrier frequencies for clinically significant disorders were for cystic fibrosis, DFNB1 nonsyndromic hearing loss and deafness, spinal muscular atrophy, familial Mediterranean fever, Smith-Lemli-Opitz syn.

Pyloric Stenosis Linked to Low Serum Lipids in Infants
https://www.medscape.com/viewarticle/809710

Aug 20th, 2013 - Low serum lipids are a risk factor for infantile hypertrophic pyloric stenosis (IHPS), according to a genetics study published in the August 20 issue of JAMA. A Multifactorial Condition Heritability exceeds 80% for IHPS, but little is known about ...

Consider Genetic Disorder in Some Milder Autism Cases
https://www.mdedge.com/psychiatry/article/21448/pediatrics/consider-genetic-disorder-some-milder-autism-cases
Linda Little

GRAPEVINE, TEX. – Physicians need to be alert to a cause of autism that might not be immediately apparent in milder cases, a Colorado pediatrician warned.

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