What question did this study set out to answer?

To define the clinical manifestations and inheritance pattern of a rare multi-system disorder characterized by renal abnormalities, overgrowth, and childhood malignancy.

September 1, 1984American Journal of Medical Genetics

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

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To define the clinical manifestations and inheritance pattern of a rare multi-system disorder characterized by renal abnormalities, overgrowth, and childhood malignancy.
Clinical and familial evaluation of individuals presenting with overgrowth, kidney malformations, and systemic congenital anomalies.
Pedigree analysis to determine the likely mode of genetic transmission across affected relatives.
Identified a constellation of features comprising renal dysplasia, Wilms tumor, endocrine pancreatic hyperplasia, fetal gigantism, multiple physical anomalies, and intellectual disability.
Established that the condition, designated as Perlman syndrome, follows an autosomal recessive pattern of inheritance.

Implication

Case series reports a distinct congenital overgrowth disorder in affected families, indicating an autosomal recessive syndrome linked to Wilms tumor.

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.

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Cite This Study

Neri et al. (1984) studied this question.

synapsesocial.com/papers/6a85d1482e9055d9662dd68c https://doi.org/10.1002/ajmg.1320190120

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Implication

Case series reports a distinct congenital overgrowth disorder in affected families, indicating an autosomal recessive syndrome linked to Wilms tumor.

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

Key Points

Implication

Abstract

Discussion

Cite This Study

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

Key Points

Implication

Abstract

Discussion

Cite This Study

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