Matches in SemOpenAlex for { <https://semopenalex.org/work/W2051227456> ?p ?o ?g. }
Showing items 1 to 81 of
81
with 100 items per page.
- W2051227456 endingPage "923" @default.
- W2051227456 startingPage "916" @default.
- W2051227456 abstract "A common form of chondrodysplasia punctata has been defined by characteristic clinical and radiologic features in 23 patients seen in Melbourne. The patients presented during infancy because of failure to thrive, apparent mental retardation, and/or unusual apperance. The typical facies is almost diagnostic, and the diagnosis is completed by finding punctate calcification in the calcaneum in lateral radiographs of the feet, and sometimes in other sites. Growth and developmental progress improved during childhood and the final outcome seems likely to comprise low normal height and intelligence with persistence of the typical facies. Mild cases probably pass unrecognized at present. Seventeen patients were male. Paternal age was significantly increased; however, family data did not support a genetic cause. Illnesses during pregnancy were unusually frequent, and anticonvulsants taken during pregnancy may have had an etiologic role in some patients. A common form of chondrodysplasia punctata has been defined by characteristic clinical and radiologic features in 23 patients seen in Melbourne. The patients presented during infancy because of failure to thrive, apparent mental retardation, and/or unusual apperance. The typical facies is almost diagnostic, and the diagnosis is completed by finding punctate calcification in the calcaneum in lateral radiographs of the feet, and sometimes in other sites. Growth and developmental progress improved during childhood and the final outcome seems likely to comprise low normal height and intelligence with persistence of the typical facies. Mild cases probably pass unrecognized at present. Seventeen patients were male. Paternal age was significantly increased; however, family data did not support a genetic cause. Illnesses during pregnancy were unusually frequent, and anticonvulsants taken during pregnancy may have had an etiologic role in some patients." @default.
- W2051227456 created "2016-06-24" @default.
- W2051227456 creator A5028921323 @default.
- W2051227456 creator A5048843025 @default.
- W2051227456 creator A5049984584 @default.
- W2051227456 creator A5075166272 @default.
- W2051227456 date "1976-12-01" @default.
- W2051227456 modified "2023-09-25" @default.
- W2051227456 title "Chondrodysplasia punctata—23 cases of a mild and relatively common variety" @default.
- W2051227456 cites W1974000153 @default.
- W2051227456 cites W1994635594 @default.
- W2051227456 cites W1995756976 @default.
- W2051227456 cites W1999133997 @default.
- W2051227456 cites W2029568732 @default.
- W2051227456 cites W2043073344 @default.
- W2051227456 cites W2081388868 @default.
- W2051227456 doi "https://doi.org/10.1016/s0022-3476(76)80596-3" @default.
- W2051227456 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/993917" @default.
- W2051227456 hasPublicationYear "1976" @default.
- W2051227456 type Work @default.
- W2051227456 sameAs 2051227456 @default.
- W2051227456 citedByCount "115" @default.
- W2051227456 countsByYear W20512274562012 @default.
- W2051227456 countsByYear W20512274562013 @default.
- W2051227456 countsByYear W20512274562014 @default.
- W2051227456 countsByYear W20512274562015 @default.
- W2051227456 countsByYear W20512274562016 @default.
- W2051227456 countsByYear W20512274562017 @default.
- W2051227456 countsByYear W20512274562018 @default.
- W2051227456 countsByYear W20512274562019 @default.
- W2051227456 countsByYear W20512274562021 @default.
- W2051227456 countsByYear W20512274562022 @default.
- W2051227456 crossrefType "journal-article" @default.
- W2051227456 hasAuthorship W2051227456A5028921323 @default.
- W2051227456 hasAuthorship W2051227456A5048843025 @default.
- W2051227456 hasAuthorship W2051227456A5049984584 @default.
- W2051227456 hasAuthorship W2051227456A5075166272 @default.
- W2051227456 hasConcept C126322002 @default.
- W2051227456 hasConcept C142724271 @default.
- W2051227456 hasConcept C187212893 @default.
- W2051227456 hasConcept C2776917539 @default.
- W2051227456 hasConcept C2778676606 @default.
- W2051227456 hasConcept C2779134260 @default.
- W2051227456 hasConcept C2779234561 @default.
- W2051227456 hasConcept C3020705096 @default.
- W2051227456 hasConcept C54355233 @default.
- W2051227456 hasConcept C71924100 @default.
- W2051227456 hasConcept C86803240 @default.
- W2051227456 hasConceptScore W2051227456C126322002 @default.
- W2051227456 hasConceptScore W2051227456C142724271 @default.
- W2051227456 hasConceptScore W2051227456C187212893 @default.
- W2051227456 hasConceptScore W2051227456C2776917539 @default.
- W2051227456 hasConceptScore W2051227456C2778676606 @default.
- W2051227456 hasConceptScore W2051227456C2779134260 @default.
- W2051227456 hasConceptScore W2051227456C2779234561 @default.
- W2051227456 hasConceptScore W2051227456C3020705096 @default.
- W2051227456 hasConceptScore W2051227456C54355233 @default.
- W2051227456 hasConceptScore W2051227456C71924100 @default.
- W2051227456 hasConceptScore W2051227456C86803240 @default.
- W2051227456 hasIssue "6" @default.
- W2051227456 hasLocation W20512274561 @default.
- W2051227456 hasLocation W20512274562 @default.
- W2051227456 hasOpenAccess W2051227456 @default.
- W2051227456 hasPrimaryLocation W20512274561 @default.
- W2051227456 hasRelatedWork W1974533924 @default.
- W2051227456 hasRelatedWork W1997878185 @default.
- W2051227456 hasRelatedWork W2010508871 @default.
- W2051227456 hasRelatedWork W2051227456 @default.
- W2051227456 hasRelatedWork W2108900425 @default.
- W2051227456 hasRelatedWork W2409436701 @default.
- W2051227456 hasRelatedWork W2595853255 @default.
- W2051227456 hasRelatedWork W2976785031 @default.
- W2051227456 hasRelatedWork W3107232616 @default.
- W2051227456 hasRelatedWork W3109264232 @default.
- W2051227456 hasVolume "89" @default.
- W2051227456 isParatext "false" @default.
- W2051227456 isRetracted "false" @default.
- W2051227456 magId "2051227456" @default.
- W2051227456 workType "article" @default.