title: The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. 1984.
abstract: 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.
authors.affiliation: Department of Medical Genetics, Shodair Children's Hospital, Helena, MT; Istituto di Genetica Umana, Facoltà di Medicina "A.Gemelli", UCSC, Ospedale S. Giovanni, Roma, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Neri
authors.forename: Maria Enrica
authors.initials: ME
authors.lastname: Martini-Neri
authors.forename: Ben E
authors.initials: BE
authors.lastname: Katz
authors.forename: John M
authors.initials: JM
authors.lastname: Opitz
mesh_terms: D005320:Fetal Macrosomia / Q000266:history*; D049673:History, 20th Century; D006801:Humans; D009396:Wilms Tumor / Q000266:history*
keywords: Perlman syndrome; Wiedemann-Beckwith syndrome; Wilms tumor; ambiguous genitalia; aniridia; fetal gigantism; hemihypertrophy; hyperplasia of endocrine pancreas; mental retardation; multiple congenital anomalies; nephroblastomatosis; renal dysplasia; trisomy 18