The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. 1984.

[aniridia]

The ensuing paper by Professor Giovanni Neri and colleagues was originally published in 1984 , American Journal of Medical Genetics 19 :195 –207 . The original article described a new family with a condition that the authors designated as the Perlman syndrome . This disorder , while uncommon , is an important multiple congenital anomaly and dysplasia syndrome ; the causative gene was recently identified . This paper is a seminal work and is graciously republished by Wiley -Blackwell in the Special Festschrift issue honoring Professor Neri . 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 .