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Clin Genet. 1984 Jun;25(6):528-32.

Renal agenesis as a diagnostic feature of the cryptophthalmos-syndactyly syndrome.


Four families with the cryptophthalmos-syndactyly syndrome are reported. Nine affected patients died in perinatal period. Autopsy, performed in 6 cases, revealed renal agenesis (bilateral in 3 and unilateral in 3 cases). These observations together with recent literature data suggest that renal malformations (agenesis or severe hypoplasia) are one of the most common features of the cryptophthalmos-syndactyly syndrome and may serve as one of diagnostic criteria for this entity.

[Indexed for MEDLINE]

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