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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D005313:Fetal Death / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D011247:Pregnancy; D013576:Syndactyly / Q000235:genetics*; D013577:Syndrome