The Perlman syndrome: Familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies
- 1 September 1984
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 19 (1) , 195-207
- https://doi.org/10.1002/ajmg.1320190120
Abstract
We describe a familial syndrome of renal dysplasia, Wilms tumor, hyperplasia of the endocrine pancreas, fetal gigantism, multiple congenital anomalies and mental retardation. This condition was previously described by Perlman et al [1973, 1975] and we propose to call it the “Perlman syndrome.” It appears to be transmitted as an autosomal recessive trait. The possible relationships between dysplasia, neoplasia and malformation are discussed.Keywords
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