Pediatric Radiology

, Volume 14, Issue 1, pp 41–43 | Cite as

Roentgenologic findings of the hydrolethalus syndrome

  • R. Herva
  • U. Seppänen


The hydrolethalus syndrome is an autosomal recessive malformation syndrome which has been recently described in Finland. The name hydrolethalus refers to the main findings, namely polyhydramnios, hydrocephalus and lethality. The patients are either stillborn or die soon after birth. The typical roentgenologic findings are hypoplasia of the tibia associated with the anomalies of the respective bone ray, e.g. metatarsus primus varus atavisticus, hallux varus or hallux duplex varus and hydrocephalus with extreme micrognathia and a specific midline defect of the occipital bone.

Key words

Hydrocephalus Occipital bone defect Micrognathia Polydactyly Lethal Hydrolethalus Sceletal malformation 


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  1. 1.
    Salonen R, Herva R, Norio R (1981) The hydrolethalus syndrome: delineation of a “new”, lethal malformation syndrome based on 28 patients. Clin Genet 19: 321PubMedGoogle Scholar
  2. 2.
    Fraser CF, Lytwyn A (1981) Spectrum of the anomalies in the Meckel syndrome, or “Maybe there is a malformation syndrome with at least one constant anomaly”. Am J Med Genet 9: 67CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag 1984

Authors and Affiliations

  • R. Herva
    • 1
  • U. Seppänen
    • 2
  1. 1.Department of PathologyUniversity of OuluOuluFinland
  2. 2.Department of RadiologyUniversity of OuluOuluFinland

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