Ventriculomegaly with radial and renal defects: Prenatal diagnosis in two consecutive sibs

Tamás Kovács, Károly Csécsei, Mária Szabó, Zoltán Tóth, Lajos Veress, Z. Papp

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

We describe two consecutive mid-trimester fetuses of different sexes with identical anomalies of the upper limbs and the kidneys in association with severe ventriculomegaly. We compare this apparently autosomal recessive syndrome to VACTERL-H association, Fanconi anemia, and two other, so far unparalleled syndromes. Taking into account the absence of chromosome breaks, the associated changes of the amniotic fluid, and the renal histology, we conclude that we are dealing with a different entity.

Original languageEnglish
Pages (from-to)259-262
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume73
Issue number3
DOIs
Publication statusPublished - Dec 19 1997

Fingerprint

Prenatal Diagnosis
Kidney
Fanconi Anemia
Chromosome Breakage
Amniotic Fluid
Upper Extremity
Histology
Fetus
VACTERL Association With Hydrocephalus
VACTERL association

Keywords

  • Crossed
  • Fused renal ectopia
  • Gamma glutamyl-transpeptidase
  • Radial agenesis
  • Ventriculomegaly

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Ventriculomegaly with radial and renal defects : Prenatal diagnosis in two consecutive sibs. / Kovács, Tamás; Csécsei, Károly; Szabó, Mária; Tóth, Zoltán; Veress, Lajos; Papp, Z.

In: American Journal of Medical Genetics, Vol. 73, No. 3, 19.12.1997, p. 259-262.

Research output: Contribution to journalArticle

Kovács, Tamás ; Csécsei, Károly ; Szabó, Mária ; Tóth, Zoltán ; Veress, Lajos ; Papp, Z. / Ventriculomegaly with radial and renal defects : Prenatal diagnosis in two consecutive sibs. In: American Journal of Medical Genetics. 1997 ; Vol. 73, No. 3. pp. 259-262.
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