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 "neoplasia" symptom

achondroplasia

acute rheumatic fever

adrenal incidentaloma

aniridia

carcinoma of the gallbladder

cholangiocarcinoma

cowden syndrome

cushing syndrome

cutaneous mastocytosis

dedifferentiated liposarcoma

dentin dysplasia

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

esophageal adenocarcinoma

esophageal carcinoma

esophageal squamous cell carcinoma

familial hypocalciuric hypercalcemia

hodgkin lymphoma, classical

liposarcoma

lymphangioleiomyomatosis

neuralgic amyotrophy

oligodontia

oral submucous fibrosis

pleomorphic liposarcoma

primary effusion lymphoma

pyomyositis

von hippel-lindau disease

waldenström macroglobulinemia

well-differentiated liposarcoma

werner syndrome

wolf-hirschhorn syndrome

This symptom has already been validated