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 .

Diseases
Validation

Diseases presenting "mental retardation" symptom

achondroplasia

alexander disease

alpha-thalassemia

aniridia

aromatase deficiency

canavan disease

classical phenylketonuria

coats disease

cohen syndrome

cowden syndrome

cystinuria

dentin dysplasia

familial hypocalciuric hypercalcemia

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

lamellar ichthyosis

lymphangioleiomyomatosis

monosomy 21

phenylketonuria

primary hyperoxaluria type 1

proteus syndrome

pyruvate dehydrogenase deficiency

sneddon syndrome

triple a syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated