Dandy-Walker malformation and polydactyly: A possible expression of hydrolethalus syndrome

Eva Morava, K. Adamovich, A. E. Czeizel

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

Abstract

Hydrolethalus syndrome consists of hydrocephalus, polydactyly, micrognathia, midcranial malformations, visceral abnormalities and perinatal lethality. It was first described in Finland, and only a few other cases outside Scandinavia are known. We report the first Hungarian patient who displayed many signs of the syndrome but had no cleft lip and visceral abnormalities. This observation suggests the existence of oligosymptomic hydrolethalus syndrome, and suggests that Dandy-Walker malformation with polydactyly may be a manifestation of the hydrolethalus syndrome.

Original languageEnglish (US)
Pages (from-to)211-215
Number of pages5
JournalClinical Genetics
Volume49
Issue number4
DOIs
StatePublished - Apr 1996

Keywords

  • Dandy-Walker malformation
  • Hydrocephalus
  • Hydrolethalus syndrome
  • Micrognathia
  • Occipital bone defect
  • Postaxial polydactyly
  • Vertebral anomaly

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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