Matches in SemOpenAlex for { <https://semopenalex.org/work/W2151004050> ?p ?o ?g. }
Showing items 1 to 75 of
75
with 100 items per page.
- W2151004050 endingPage "93" @default.
- W2151004050 startingPage "90" @default.
- W2151004050 abstract "Three fetuses with normal chromosomes were found to have uni- or bilateral hydronephrosis during the third trimester of pregnancy. At birth, they presented with coarse face, hypertelorism, and a deep groove under the eyes. Fontanelles and sutures were wide open. Genital abnormalities were present in 2 cases. Skeletal radiographs showed delayed bone maturation, broad and dense ribs, and a wide synchondrosis between the exoccipital and supraoccipital bones. The combination of such findings suggested the diagnosis of Schinzel-Giedion syndrome. Two patients died soon after birth, whereas the third one developed severe mental and motor retardation with seizures and spasticity, and died at 18 months. Schinzel-Giedion syndrome is rare and likely to be inherited as an autosomal recessive trait. So far, 13 well-documented cases have been reported allowing major and minor traits of the syndrome to be distinguished. Since no genetic marker is available, the prenatal diagnosis of Schinzel-Giedion syndrome relies on ultrasound examination, especially detection of renal abnormalities. © 1994 Wiley-Liss, Inc." @default.
- W2151004050 created "2016-06-24" @default.
- W2151004050 creator A5028202256 @default.
- W2151004050 creator A5029343002 @default.
- W2151004050 creator A5038063185 @default.
- W2151004050 creator A5038346732 @default.
- W2151004050 creator A5038513819 @default.
- W2151004050 creator A5039580529 @default.
- W2151004050 creator A5042339213 @default.
- W2151004050 date "1994-03-01" @default.
- W2151004050 modified "2023-09-26" @default.
- W2151004050 title "Three new cases of the Schinzel-Giedion syndrome and review of the literature" @default.
- W2151004050 cites W1965370906 @default.
- W2151004050 cites W1982269557 @default.
- W2151004050 cites W2002243924 @default.
- W2151004050 cites W2040775142 @default.
- W2151004050 cites W2090517851 @default.
- W2151004050 doi "https://doi.org/10.1002/ajmg.1320500120" @default.
- W2151004050 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/8160760" @default.
- W2151004050 hasPublicationYear "1994" @default.
- W2151004050 type Work @default.
- W2151004050 sameAs 2151004050 @default.
- W2151004050 citedByCount "29" @default.
- W2151004050 countsByYear W21510040502012 @default.
- W2151004050 countsByYear W21510040502015 @default.
- W2151004050 countsByYear W21510040502016 @default.
- W2151004050 countsByYear W21510040502018 @default.
- W2151004050 crossrefType "journal-article" @default.
- W2151004050 hasAuthorship W2151004050A5028202256 @default.
- W2151004050 hasAuthorship W2151004050A5029343002 @default.
- W2151004050 hasAuthorship W2151004050A5038063185 @default.
- W2151004050 hasAuthorship W2151004050A5038346732 @default.
- W2151004050 hasAuthorship W2151004050A5038513819 @default.
- W2151004050 hasAuthorship W2151004050A5039580529 @default.
- W2151004050 hasAuthorship W2151004050A5042339213 @default.
- W2151004050 hasConcept C105702510 @default.
- W2151004050 hasConcept C172680121 @default.
- W2151004050 hasConcept C2778258057 @default.
- W2151004050 hasConcept C2778681388 @default.
- W2151004050 hasConcept C2779234561 @default.
- W2151004050 hasConcept C2779286207 @default.
- W2151004050 hasConcept C54355233 @default.
- W2151004050 hasConcept C71924100 @default.
- W2151004050 hasConcept C86803240 @default.
- W2151004050 hasConceptScore W2151004050C105702510 @default.
- W2151004050 hasConceptScore W2151004050C172680121 @default.
- W2151004050 hasConceptScore W2151004050C2778258057 @default.
- W2151004050 hasConceptScore W2151004050C2778681388 @default.
- W2151004050 hasConceptScore W2151004050C2779234561 @default.
- W2151004050 hasConceptScore W2151004050C2779286207 @default.
- W2151004050 hasConceptScore W2151004050C54355233 @default.
- W2151004050 hasConceptScore W2151004050C71924100 @default.
- W2151004050 hasConceptScore W2151004050C86803240 @default.
- W2151004050 hasIssue "1" @default.
- W2151004050 hasLocation W21510040501 @default.
- W2151004050 hasLocation W21510040502 @default.
- W2151004050 hasOpenAccess W2151004050 @default.
- W2151004050 hasPrimaryLocation W21510040501 @default.
- W2151004050 hasRelatedWork W1583302930 @default.
- W2151004050 hasRelatedWork W1969022859 @default.
- W2151004050 hasRelatedWork W1997722668 @default.
- W2151004050 hasRelatedWork W2030882581 @default.
- W2151004050 hasRelatedWork W2041651589 @default.
- W2151004050 hasRelatedWork W2363400180 @default.
- W2151004050 hasRelatedWork W2368136628 @default.
- W2151004050 hasRelatedWork W2391330661 @default.
- W2151004050 hasRelatedWork W3029926242 @default.
- W2151004050 hasRelatedWork W4200080312 @default.
- W2151004050 hasVolume "50" @default.
- W2151004050 isParatext "false" @default.
- W2151004050 isRetracted "false" @default.
- W2151004050 magId "2151004050" @default.
- W2151004050 workType "article" @default.