Abstract
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.
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References
Salonen R, Herva R, Norio R (1981) The hydrolethalus syndrome: delineation of a “new”, lethal malformation syndrome based on 28 patients. Clin Genet 19: 321
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: 67
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Herva, R., Seppänen, U. Roentgenologic findings of the hydrolethalus syndrome. Pediatr Radiol 14, 41–43 (1984). https://doi.org/10.1007/BF02386730
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DOI: https://doi.org/10.1007/BF02386730