1973
DOI: 10.1016/s0022-3476(73)80264-1
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Renal hamartomas and nephroblastomatosis with fetal gigantism: A familial syndrome

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Cited by 82 publications
(43 citation statements)
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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%
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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%
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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%