Citation, DOI, disclosures and article data
Citation:
Radswiki T, Luong D, Shetty A, et al. Hydrolethalus syndrome. Reference article, Radiopaedia.org (Accessed on 23 Apr 2024) https://doi.org/10.53347/rID-14657
Hydrolethalus syndrome is a rare lethal genetic syndrome characterized by multiple developmental defects of the fetus which include:
Epidemiology
The estimated incidence is at approximately 1 in 20000 births. There is often ancestral links to an area in eastern Finland where the syndrome was described, for the first time, in 1981. Outside of this subgroup, the incidence is even much more rarer.
Pathology
Genetics
An autosomal recessive inheritance pattern is often suspected and it is thought to be caused by a missense mutation in a novel gene HYLS1.
Associations
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4. Norgard M, Yankowitz J, Rhead W et-al. Prenatal ultrasound findings in hydrolethalus: continuing difficulties in diagnosis. Prenat. Diagn. 1996;16 (2): 173-9. doi:10.1002/(SICI)1097-0223(199602)16:2<173::AID-PD821>3.0.CO;2-I - Pubmed citation
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5. Siffring PA, Forrest TS, Frick MP. Sonographic detection of hydrolethalus syndrome. J Clin Ultrasound. 1991;19 (1): 43-7. - Pubmed citation
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