1993
DOI: 10.1111/j.1399-0004.1993.tb03838.x
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A family study on isolated congenital radial and tibial deficiencies in Hungary, 1975–1984

Abstract: Czeizel AE, Vitéz M, Kodaj I, Lenz W. A family study on isolated congenital radial and tibial deficiencies in Hungary, 1975–1984. Clin Genet 1993: 44: 32–36. © Munksgaard, 1993 Radial and tibial deficiencies are frequently (70%) associated with non‐limb abnormalities. Isolated radial and tibial deficiencies may have a different etiology: in this study radial deficiencies were more frequent, there were milder subtypes and one‐limb involvement was found in 70% of cases, tibial deficiencies were rare, mild subtyp… Show more

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Cited by 8 publications
(5 citation statements)
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“…To start, sporadic malformations typically show decreased birth weights [32][33][34]. This applies specifically to VACTERL [35], anorectal [36], and gastrointestinal abnormalities, both isolated and combined [37], cardiac defects ranging from simple to complex [38,39], TEF/EA (tracheo-esophageal fistula/esophageal atresia) [40], and radial findings alone [41], or with other anomalies [42]. Confirming differences between sporadic and genetic cases, newborns with isolated idiopathic preaxial polydactyly type I had lower birth weights than matched controls and familial cases [43].…”
Section: Vacterl and Adverse Outcomesmentioning
confidence: 99%
“…To start, sporadic malformations typically show decreased birth weights [32][33][34]. This applies specifically to VACTERL [35], anorectal [36], and gastrointestinal abnormalities, both isolated and combined [37], cardiac defects ranging from simple to complex [38,39], TEF/EA (tracheo-esophageal fistula/esophageal atresia) [40], and radial findings alone [41], or with other anomalies [42]. Confirming differences between sporadic and genetic cases, newborns with isolated idiopathic preaxial polydactyly type I had lower birth weights than matched controls and familial cases [43].…”
Section: Vacterl and Adverse Outcomesmentioning
confidence: 99%
“…Esse resultado demonstra um fator familiar importante, no qual pode estar envolvida a predisposição genética ou multifatorial dessas anomalias. Czeizel et al 9 descrevem vários casos de diagnóstico familiar de malformações nos pais, nos casos de recém-nascidos com malformações de membros.…”
Section: Resultsunclassified
“…Czeizel et al 9 encontraram diferenças significativas entre o nível de escolaridade dos pais dos recém-nascidos com malformações isoladas congênitas radiais e tibiais.…”
Section: Variávelunclassified
“…Even if infants with aneuploidy are excluded, most sporadic structural malformations are still associated with a decreased birth weight for gestational age [Khoury et al, ; Mili et al, ; Rasmussen et al, ]. This has been shown specifically for the VACTERL association [Czeizel and Ludányi, ], the prototypic blastogenetic association [Lubinsky, ], for anorectal anomalies [Wijers et al, ] and gastrointestinal abnormalities, both isolated or together with other findings [Tárnok and Méhes, ], cardiac defects ranging from the simple to the complex [Malik et al, ; Wallenstein et al, ], TEF/EA [Depaepe et al, ], radial findings alone [Czeizel et al, ], or associated with other anomalies [Evans et al, ], and hypospadias [Gatti et al, ; Brouwers et al, ].…”
Section: Hypocellularity and Malformationsmentioning
confidence: 99%