Matches in SemOpenAlex for { <https://semopenalex.org/work/W2325201425> ?p ?o ?g. }
Showing items 1 to 67 of
67
with 100 items per page.
- W2325201425 abstract "The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital anomaly/mental retardation syndrome caused by a defect in cholesterol synthesis. Affected individuals have dysmorphism, short stature, failure to thrive, microcephaly, multiple congenital malformations, and mental retardation. Diagnostic biochemical features include low plasma cholesterol levels and elevated levels of cholesterol precursors, including 7-dehydrocholesterol (7DHC).The aim of this study is to report a case of SLOS with hypercortisolism and hypothyroidism.This is a case report from the genetic and metabolic unit of a tertiary care teaching hospital in north India.A 5-month-old male child presented with progressively increasing weight since birth. On examination, he had cyanosis, facial dysmorphism, obesity, bilateral cryptorchidism, hypospadias, inverted nipples, and systolic murmur over the left parasternal area. Investigations revealed a decreased serum cholesterol and elevated 7DHC. His serum cortisol and adrenocorticotropic hormone levels were elevated, and there was suppression of cortisol after the high-dose dexamethasone test. Magnetic resonance imaging of the brain and the pituitary region was normal. The thyroid-stimulating hormone was also elevated. Echocardiography revealed a double-outlet right ventricle with ventricular septal defect and pulmonary stenosis.SLOS is an inborn error of cholesterol synthesis associated with failure to thrive and malformations involving almost all the systems of the body. The occurrence of hypercortisolism, hypothyroidism, obesity, and complex cyanotic cardiac lesion in association with SLOS has not been described earlier." @default.
- W2325201425 created "2016-06-24" @default.
- W2325201425 creator A5011964842 @default.
- W2325201425 creator A5045865660 @default.
- W2325201425 creator A5061621579 @default.
- W2325201425 date "2012-01-01" @default.
- W2325201425 modified "2023-10-08" @default.
- W2325201425 title "Hypercortisolism and hypothyroidism in an infant with Smith-Lemli-Opitz syndrome" @default.
- W2325201425 doi "https://doi.org/10.1515/jpem-2012-0099" @default.
- W2325201425 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23426833" @default.
- W2325201425 hasPublicationYear "2012" @default.
- W2325201425 type Work @default.
- W2325201425 sameAs 2325201425 @default.
- W2325201425 citedByCount "2" @default.
- W2325201425 countsByYear W23252014252014 @default.
- W2325201425 countsByYear W23252014252020 @default.
- W2325201425 crossrefType "journal-article" @default.
- W2325201425 hasAuthorship W2325201425A5011964842 @default.
- W2325201425 hasAuthorship W2325201425A5045865660 @default.
- W2325201425 hasAuthorship W2325201425A5061621579 @default.
- W2325201425 hasBestOaLocation W23252014251 @default.
- W2325201425 hasConcept C104788683 @default.
- W2325201425 hasConcept C126322002 @default.
- W2325201425 hasConcept C134018914 @default.
- W2325201425 hasConcept C134651460 @default.
- W2325201425 hasConcept C181199279 @default.
- W2325201425 hasConcept C185592680 @default.
- W2325201425 hasConcept C187212893 @default.
- W2325201425 hasConcept C2776917539 @default.
- W2325201425 hasConcept C2777871287 @default.
- W2325201425 hasConcept C2780716534 @default.
- W2325201425 hasConcept C55493867 @default.
- W2325201425 hasConcept C71924100 @default.
- W2325201425 hasConcept C89551170 @default.
- W2325201425 hasConceptScore W2325201425C104788683 @default.
- W2325201425 hasConceptScore W2325201425C126322002 @default.
- W2325201425 hasConceptScore W2325201425C134018914 @default.
- W2325201425 hasConceptScore W2325201425C134651460 @default.
- W2325201425 hasConceptScore W2325201425C181199279 @default.
- W2325201425 hasConceptScore W2325201425C185592680 @default.
- W2325201425 hasConceptScore W2325201425C187212893 @default.
- W2325201425 hasConceptScore W2325201425C2776917539 @default.
- W2325201425 hasConceptScore W2325201425C2777871287 @default.
- W2325201425 hasConceptScore W2325201425C2780716534 @default.
- W2325201425 hasConceptScore W2325201425C55493867 @default.
- W2325201425 hasConceptScore W2325201425C71924100 @default.
- W2325201425 hasConceptScore W2325201425C89551170 @default.
- W2325201425 hasIssue "9-10" @default.
- W2325201425 hasLocation W23252014251 @default.
- W2325201425 hasLocation W23252014252 @default.
- W2325201425 hasOpenAccess W2325201425 @default.
- W2325201425 hasPrimaryLocation W23252014251 @default.
- W2325201425 hasRelatedWork W1133256205 @default.
- W2325201425 hasRelatedWork W1998681038 @default.
- W2325201425 hasRelatedWork W2046682094 @default.
- W2325201425 hasRelatedWork W2090793170 @default.
- W2325201425 hasRelatedWork W2108178045 @default.
- W2325201425 hasRelatedWork W2415039664 @default.
- W2325201425 hasRelatedWork W2610935582 @default.
- W2325201425 hasRelatedWork W2750923590 @default.
- W2325201425 hasRelatedWork W4229440370 @default.
- W2325201425 hasRelatedWork W4387330583 @default.
- W2325201425 hasVolume "25" @default.
- W2325201425 isParatext "false" @default.
- W2325201425 isRetracted "false" @default.
- W2325201425 magId "2325201425" @default.
- W2325201425 workType "article" @default.