A family study on isolated congenital radial and tibial deficiencies in Hungary, 1975-1984

E. Czeizel, M. Vitez, I. Kodaj, W. Lenz

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

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 subtypes did not occur and in general more limbs were involved. Among multimelic cases, one case had hypoplasia of the tibia with polydactyly and two cases had tibial aplasia with split hand ± foot of autosomal dominant inheritance. Of 40 cases, four were familial. Findings of a case-control study on this population-based and validated 10-year cohort showed a lower mean birth weight and a higher rate of low birth weight in cases with isolated radial and tibial deficiency.

Original languageEnglish
Pages (from-to)32-36
Number of pages5
JournalClinical Genetics
Volume44
Issue number1
Publication statusPublished - 1993

Fingerprint

Hungary
Extremities
Low Birth Weight Infant
Birth Weight
Case-Control Studies
Foot
Hand
Population
Tibia, Hypoplasia of, with Polydactyly

Keywords

  • Congenital radial and tibial deficiences
  • Tibial aplasia with split hand ± foot

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

A family study on isolated congenital radial and tibial deficiencies in Hungary, 1975-1984. / Czeizel, E.; Vitez, M.; Kodaj, I.; Lenz, W.

In: Clinical Genetics, Vol. 44, No. 1, 1993, p. 32-36.

Research output: Contribution to journalArticle

Czeizel, E. ; Vitez, M. ; Kodaj, I. ; Lenz, W. / A family study on isolated congenital radial and tibial deficiencies in Hungary, 1975-1984. In: Clinical Genetics. 1993 ; Vol. 44, No. 1. pp. 32-36.
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