Renal hamartomas and nephroblastomatosis with fetal gigantism: A familial syndrome

Perlman, Max; Goldberg, Gil M.; Bar‐Ziv, Jacob; Danovitch, Gabriel M.

doi:10.1016/s0022-3476(73)80264-1

Cited by 82 publications

(43 citation statements)

References 6 publications

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“…These 2 sibs present a condition similar to that reported by Perlman et al [1973Perlman et al [ , 1975, also in siblings, born to consanguineous parents. The major manifestations of what appears to be a multiple congenital anomalies/mental retardation/dysplasia syndrome are: macrosomia at birth, multiple minor anomalies, developmental delay, renal dysplasia with Wilms tumor, and hyperplasia of the endocrine pancreas.…”

Section: Discussionsupporting

confidence: 74%

“…Patient 1 had foci of renal blastema and evidence of glomerulogenesis, as indicated by the persistence of fetal glomeruli at a time when normal nephrogenesis should be largely completed. Liban and Kozenitsky [1970] observed similar lesions in post-mortem specimens of 2 sibs belonging to the same family later described by Perlman et al [1973]. A similar situation was reported in a patient with the Wiedemann-Beckwith syndrome [Reddy et al, 1972] 5 patients with the 18 trisomy syndrome [Bove et al, 1969].…”

Section: Discussionsupporting

confidence: 67%

“…We report on a family in which 2 sibs had the fetal gigantism and nephroblastomtosis syndrome described by Perlman et al [1973Perlman et al [ , 1975. One of the sibs developed a Wilms tumor, the other died suddenly as an infant.…”

Section: Introductionmentioning

confidence: 99%

“…Renal dysplasia, consisting of hamartomas, focal nephroblastomatosis and/or Wilms tumor have been described in several multiple congenital anomalies (MCA) syndromes such as the AGR (aniridia, ambiguous genitalia, mental retardation) syndrome [Riccardi et al, 1978], the Wiedemann-Beckwith syndrome [Reddy et al, 1972], the hemihypertrophy syndrome [Miller et al, 1964], the 18 trisomy syndrome [Bove et al, 1969] and a syndrome of fetal gigantism, nephroblastomatosis and hypertrophy of the endocrine pancreas described by Perlman et al [1973Perlman et al [ , 1975 in a Yemenite Jewish family. Each of these conditions relates to 2 important pathogenetic questions: 1) What is the relationship, if any, between persistence of fetal renal tissue, the presence of malformations, and growth disturbance of prenatal onset; and 2) Is nephroblastomatosis, i.e.…”

Section: Introductionmentioning

confidence: 99%

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

Neri

Martini-Neri

Katz³

et al. 2013

American J of Med Genetics Pt A

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IntroductionThe 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.John C. CareyEditor‐in‐ChiefWe 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. © 2013 Wiley Periodicals, Inc.

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Section: Discussionsupporting

confidence: 74%

Section: Discussionsupporting

confidence: 67%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

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

Neri

Martini-Neri

Katz³

et al. 2013

American J of Med Genetics Pt A

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“…Nine years later, Liban et al published a series on four siblings with nephroblastomatosis, whose parents were first cousins [6]. Then in 1973, Perlman and Kosenitzky published a case report on an additional sibling from the same family [7]. That infant had enophthalmos, small nose with a depressed bridge, everted upper lip, and low-set ears.…”

Section: Discussionmentioning

confidence: 99%

Bilateral Renal Dysplasia, Nephroblastomatosis, and Bronchial Stenosis. A New Syndrome?

Rodríguez

Correa-Medina

Whittington

2015

Fetal and Pediatric Pathology

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Bilateral nephroblastomatosis (NB) is an uncommon renal anomaly characterized by multiple confluent nephrogenic rests scattered through both kidneys, with only a limited number of cases reported in the medical literature. Some of these children may have associated either Perlman or Beckwith-Wiedemann syndrome and others do not demonstrate syndromic features.We report a full-term boy with anteverted nose, bilateral bronchial stenosis due to lack of cartilage, bilateral obstructive renal dysplasia and NB with glomeruloid features. The infant had visceromegaly, but neither gigantism nor hemihypertrophy.Immunohistochemistry for PAX2 (Paired box gene-2) and WT-1 (Wilms Tumor 1) were strongly positive in the areas of NB. GLEPP-1 (Glomerular Epithelial Protein) did not stain the areas of NB with a glomeruloid appearance, but was positive in the renal glomeruli as expected. We found neither associated bronchial stenosis nor the histology of NB resembling giant glomeruli in any of the reported cases of NB.

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Perlman syndrome: Four additional cases and review

et al. 1999

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Perlman syndrome was first described in 1973 and comprises nephromegaly with renal dysplasia and Wilms tumor, macrosomia, cryptorchidism, and multiple facial anomalies. Polyhydramnios and hypoglycaemia are often found. Twelve children have been described from six different families. Five came from one family whose Yemenite Jewish parents were second cousins. Autosomal recessive inheritance has been suggested. Prognosis is severe with neonatal death in most children. We report on 4 new cases of Perlman syndrome from 3 families; all parents were non-consanguineous. Some of the observed manifestations have been described only once in this syndrome (cardiac defect, hepatic fibrosis with portoportal bridging, haemangioma) or never before (volvulus, intestinal atresia, and agenesis of the corpus callosum in 1 patient, a cleft palate in another). All children died within the first year. The 2 sibs were born prematurely with nephromegaly but without hamartomas or nephroblastomatosis. This is consistent with the hypothesis that dysplastic medullary parenchyma in preterm infants develops into nephroblastomatosis and hamartoma and eventually Wilms tumor.

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Renal hamartomas and nephroblastomatosis with fetal gigantism: A familial syndrome

Cited by 82 publications

References 6 publications

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

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

Bilateral Renal Dysplasia, Nephroblastomatosis, and Bronchial Stenosis. A New Syndrome?

Perlman syndrome: Four additional cases and review

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