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Renal agenesis as a diagnostic feature of the crypthophthalmos‐syndactyly syndrome
Author(s) -
Lurie I. W.,
Cherstvoy E. D.
Publication year - 1984
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1984.tb00496.x
Subject(s) - syndactyly , renal agenesis , medicine , agenesis , hypoplasia , autopsy , aplasia , anatomy , dysostosis , surgery , congenital disease , pathology , kidney
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.