Matches in SemOpenAlex for { <https://semopenalex.org/work/W1567216279> ?p ?o ?g. }
Showing items 1 to 69 of
69
with 100 items per page.
- W1567216279 endingPage "28" @default.
- W1567216279 startingPage "1" @default.
- W1567216279 abstract "The study included 44 Scandinavian individuals with the autosomal recessive inherited Laurence-Moon-Bardet-Biedl syndrome. Inclusion criteria were retinal dystrophy plus at least 2 more of the remaining traditional cardinal signs of the syndrome: obesity, polydactyly, hypogenitalism and mental retardation. The study showed that the patients had an early onset of night blindness and a poor visual prognosis. No rod ERG-responses to dim blue light were found, even in the youngest-3 years old. No one exceeding the age of 16 had a best corrected visual acuity of more than 0.1. The fundus picture was an atypical retinitis pigmentosa with macular pigments previous to any bone spicules. Birth weight and -length were within normal limits, but obesity appeared in early childhood and proceeded to profuse overweight during adolecence. Final height was slightly reduced. Typical skeletal anomalies were polydactyly, short and broad metacarpal bones and flat joint surfaces of the metacarpo- or metatarso-phalangeal joints. Hypogenitalism was noted in nearly all the men but only as an exception in the women. Most patients seemed to have good mental resources. Renal disease was a common cause of death. We found significantly higher frequencies of small or missing teeth and short roots compared to a control group. Substantial variation of the clinical signs was demonstrated both between families and between affected siblings in 11 families with 2-3 syndrome members. These families were included in a genetic study of 29 similar families where linkage was confirmed to the BBS1, BBS4 and BBS2 loci on chromosomes 11, 15 and 16. No clear clinical distinctions were apparent between the families linked to the different loci. Overlapping of clinical signs from the subgroups Laurence-Moon, Bardet-Biedl and Alstrom syndromes were observed within the same patient or family. The typical features in our Laurence-Moon-Bardet-Biedl syndrome patients were: retinal dystrophy, obesity, dental anomalies, skeletal anomalies of hands and feet, hypogenitalism in men and renal disease." @default.
- W1567216279 created "2016-06-24" @default.
- W1567216279 creator A5000413612 @default.
- W1567216279 date "1998-01-01" @default.
- W1567216279 modified "2023-09-25" @default.
- W1567216279 title "Laurence-Moon-Bardet-Biedl syndrome. Clinical, electrophysiological and genetic aspects." @default.
- W1567216279 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9645236" @default.
- W1567216279 hasPublicationYear "1998" @default.
- W1567216279 type Work @default.
- W1567216279 sameAs 1567216279 @default.
- W1567216279 citedByCount "6" @default.
- W1567216279 countsByYear W15672162792016 @default.
- W1567216279 countsByYear W15672162792022 @default.
- W1567216279 crossrefType "journal-article" @default.
- W1567216279 hasAuthorship W1567216279A5000413612 @default.
- W1567216279 hasConcept C103796816 @default.
- W1567216279 hasConcept C104317684 @default.
- W1567216279 hasConcept C105702510 @default.
- W1567216279 hasConcept C118487528 @default.
- W1567216279 hasConcept C127716648 @default.
- W1567216279 hasConcept C187212893 @default.
- W1567216279 hasConcept C2776391266 @default.
- W1567216279 hasConcept C2776608714 @default.
- W1567216279 hasConcept C2777267824 @default.
- W1567216279 hasConcept C2778257484 @default.
- W1567216279 hasConcept C2780827179 @default.
- W1567216279 hasConcept C2781114197 @default.
- W1567216279 hasConcept C2781232497 @default.
- W1567216279 hasConcept C54355233 @default.
- W1567216279 hasConcept C548259974 @default.
- W1567216279 hasConcept C71924100 @default.
- W1567216279 hasConcept C86803240 @default.
- W1567216279 hasConceptScore W1567216279C103796816 @default.
- W1567216279 hasConceptScore W1567216279C104317684 @default.
- W1567216279 hasConceptScore W1567216279C105702510 @default.
- W1567216279 hasConceptScore W1567216279C118487528 @default.
- W1567216279 hasConceptScore W1567216279C127716648 @default.
- W1567216279 hasConceptScore W1567216279C187212893 @default.
- W1567216279 hasConceptScore W1567216279C2776391266 @default.
- W1567216279 hasConceptScore W1567216279C2776608714 @default.
- W1567216279 hasConceptScore W1567216279C2777267824 @default.
- W1567216279 hasConceptScore W1567216279C2778257484 @default.
- W1567216279 hasConceptScore W1567216279C2780827179 @default.
- W1567216279 hasConceptScore W1567216279C2781114197 @default.
- W1567216279 hasConceptScore W1567216279C2781232497 @default.
- W1567216279 hasConceptScore W1567216279C54355233 @default.
- W1567216279 hasConceptScore W1567216279C548259974 @default.
- W1567216279 hasConceptScore W1567216279C71924100 @default.
- W1567216279 hasConceptScore W1567216279C86803240 @default.
- W1567216279 hasIssue "226" @default.
- W1567216279 hasLocation W15672162791 @default.
- W1567216279 hasOpenAccess W1567216279 @default.
- W1567216279 hasPrimaryLocation W15672162791 @default.
- W1567216279 hasRelatedWork W1489783725 @default.
- W1567216279 hasRelatedWork W1506200166 @default.
- W1567216279 hasRelatedWork W2039318446 @default.
- W1567216279 hasRelatedWork W2080531066 @default.
- W1567216279 hasRelatedWork W2226293228 @default.
- W1567216279 hasRelatedWork W2748952813 @default.
- W1567216279 hasRelatedWork W2780146991 @default.
- W1567216279 hasRelatedWork W2899084033 @default.
- W1567216279 hasRelatedWork W3024996153 @default.
- W1567216279 hasRelatedWork W4238579938 @default.
- W1567216279 isParatext "false" @default.
- W1567216279 isRetracted "false" @default.
- W1567216279 magId "1567216279" @default.
- W1567216279 workType "article" @default.