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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Prenatal ultrasound findings in hydrolethalus: continuing difficulties in diagnosis.

We present the prenatal ultrasound findings in a case of hydrolethalus. This case illustrates ongoing problems in differentiating hydrolethalus, both pre- and postnatally, from other midline malformation syndromes including Pallister-Hall, Smith-Lemli-Opitz, pseudo-trisomy 13, oral facial-digital syndrome, and Meckel syndrome. Hydrolethalus can also be difficult to distinguish from certain skeletal dysplasias such as the short rib-polydactyly syndromes and campomelic dysplasia. Tests which can aid in diagnosis are presented.[1]


  1. Prenatal ultrasound findings in hydrolethalus: continuing difficulties in diagnosis. Norgard, M., Yankowitz, J., Rhead, W., Kanis, A.B., Hall, B.D. Prenat. Diagn. (1996) [Pubmed]
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