NDLI: Brothers with Smith-Lemli-Opitz syndrome.

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Brothers with Smith-Lemli-Opitz syndrome.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Kelly, Maria N. Tuli, Sanjeev Y. Tuli, Sonal S. Stern, Mori A. Giordano, Beverly P.
Abstract	Abnormal cholesterol metabolism is the cause of SLOS, with low cholesterol levels and elevated levels of cholesterol precursors thought to contribute to the clinical findings in this syndrome. Management of SLOS involves early intervention with appropriate therapies for identified disabilities, genetic counseling for families, nutritional consultations, educational interventions, and behavioral management. Although no randomized dietary studies have been conducted, cholesterol supplementation continues to be a common recommendation for persons with SLOS, because it may result in clinical improvement and has few adverse effects (Nowaczyk, 2013). Even with early detection and treatment (e.g., sibling B in this case report), persons with SLOS often have significant behavioral issues and cognitive and developmental delays that require a team approach by parents, educators, specialists, and primary care providers.
File Format	HTM / HTML
ISSN	08915245
Issue Number	1
Volume Number	29
e-ISSN	1532656X
Journal	Journal of Pediatric Health Care
Language	English
Publisher	Elsevier
Publisher Date	2015-01-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Pediatrics Smith-lemli-opitz Syndrome Diagnosis Abnormalities, Multiple Child, Preschool Humans Infant, Newborn Male Microcephaly Oxidoreductases Acting On Ch-ch Group Donors Blood Genetics Siblings Pathology Therapy Case Reports Journal Article
Content Type	Text
Resource Type	Case study Article
Subject	Pediatrics, Perinatology and Child Health

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Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.

Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.

Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.

Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease.

RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis.

Corpus callosum measurements correlate with developmental delay in Smith-Lemli-Opitz syndrome.

The RSH/'Smith-Lemli-Opitz' syndrome: historical footnote.

Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.

Smith‐Lemli‐Opitz syndrome in trisomy 13: How does the mix work?

Brothers with Smith-Lemli-Opitz syndrome.

Similar Documents

Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.

Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.

Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.

Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease.

RSH/Smith-Lemli-Opitz syndrome: mutations and metabolic morphogenesis.

Corpus callosum measurements correlate with developmental delay in Smith-Lemli-Opitz syndrome.

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Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.

Smith‐Lemli‐Opitz syndrome in trisomy 13: How does the mix work?

Brothers with Smith-Lemli-Opitz syndrome.