Matches in SemOpenAlex for { <https://semopenalex.org/work/W1857941874> ?p ?o ?g. }
Showing items 1 to 61 of
61
with 100 items per page.
- W1857941874 endingPage "331" @default.
- W1857941874 startingPage "328" @default.
- W1857941874 abstract "A report of concordant monochorionic, diamnionic like-sex twins with whistling face syndrome is presented. The diagnosis was based on the characteristic facies with prominent supraorbital ridge, sunken eyes, telacanthus, short nose and colobomata of the nostrils, long philtrum, high narrow palate, and marked microstomia with puckered lips and an H-shaped cutaneous dimpling on the chin. The hands showed symmetrically clenched fingers with camptodactyly and ulnar deviation. The feet demonstrated mild bilateral talipes equinovarus. HLA studies to determine the zygosity of the twins showed discordance in HLA haplotypes, which indicated dizygosity. The pedigree analysis showed normal nonconsanguineos parents, and no other family members had the syndrome. The findings support the existence of an autosomal recessive type of whistling face syndrome." @default.
- W1857941874 created "2016-06-24" @default.
- W1857941874 creator A5001751203 @default.
- W1857941874 creator A5002819319 @default.
- W1857941874 creator A5054869990 @default.
- W1857941874 date "1982-03-01" @default.
- W1857941874 modified "2023-10-06" @default.
- W1857941874 title "Autosomal Recessive Type of Whistling Face Syndrome in Twins" @default.
- W1857941874 doi "https://doi.org/10.1542/peds.69.3.328" @default.
- W1857941874 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7199706" @default.
- W1857941874 hasPublicationYear "1982" @default.
- W1857941874 type Work @default.
- W1857941874 sameAs 1857941874 @default.
- W1857941874 citedByCount "24" @default.
- W1857941874 countsByYear W18579418742012 @default.
- W1857941874 countsByYear W18579418742015 @default.
- W1857941874 countsByYear W18579418742016 @default.
- W1857941874 crossrefType "journal-article" @default.
- W1857941874 hasAuthorship W1857941874A5001751203 @default.
- W1857941874 hasAuthorship W1857941874A5002819319 @default.
- W1857941874 hasAuthorship W1857941874A5054869990 @default.
- W1857941874 hasConcept C105702510 @default.
- W1857941874 hasConcept C141071460 @default.
- W1857941874 hasConcept C16005928 @default.
- W1857941874 hasConcept C2778013446 @default.
- W1857941874 hasConcept C2778216619 @default.
- W1857941874 hasConcept C2779881321 @default.
- W1857941874 hasConcept C2780021535 @default.
- W1857941874 hasConcept C2781129224 @default.
- W1857941874 hasConcept C71924100 @default.
- W1857941874 hasConceptScore W1857941874C105702510 @default.
- W1857941874 hasConceptScore W1857941874C141071460 @default.
- W1857941874 hasConceptScore W1857941874C16005928 @default.
- W1857941874 hasConceptScore W1857941874C2778013446 @default.
- W1857941874 hasConceptScore W1857941874C2778216619 @default.
- W1857941874 hasConceptScore W1857941874C2779881321 @default.
- W1857941874 hasConceptScore W1857941874C2780021535 @default.
- W1857941874 hasConceptScore W1857941874C2781129224 @default.
- W1857941874 hasConceptScore W1857941874C71924100 @default.
- W1857941874 hasIssue "3" @default.
- W1857941874 hasLocation W18579418741 @default.
- W1857941874 hasLocation W18579418742 @default.
- W1857941874 hasOpenAccess W1857941874 @default.
- W1857941874 hasPrimaryLocation W18579418741 @default.
- W1857941874 hasRelatedWork W1857941874 @default.
- W1857941874 hasRelatedWork W1968089086 @default.
- W1857941874 hasRelatedWork W1981182413 @default.
- W1857941874 hasRelatedWork W2041811962 @default.
- W1857941874 hasRelatedWork W2275037541 @default.
- W1857941874 hasRelatedWork W2399312120 @default.
- W1857941874 hasRelatedWork W2561780874 @default.
- W1857941874 hasRelatedWork W4297184974 @default.
- W1857941874 hasRelatedWork W97748674 @default.
- W1857941874 hasRelatedWork W175732508 @default.
- W1857941874 hasVolume "69" @default.
- W1857941874 isParatext "false" @default.
- W1857941874 isRetracted "false" @default.
- W1857941874 magId "1857941874" @default.
- W1857941874 workType "article" @default.