Perlman syndrome

Perlman syndrome

An AR condition characterized by fetal gigantism, renal hamartomas, nephroblastomatosis, ± Wilms' tumor, unusual facies

Perlman,

M., 20th century Israeli physician.
Perlman syndrome - fatal autosomal recessive disorder.
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References in periodicals archive ?
A myriad of syndromes are characterized by substantial localized or asymmetric tissue overgrowth, represented by Beckwith-Wiedemann syndrome, Sotos syndrome, Proteus syndrome, Klippel-Trenaunay-Weber syndrome, Madelung's disease, neurofibromatosis type I, Weaver syndrome, Nevo syndrome, Simpson-Golabi-Behmel syndrome, Bannayan-Riley-Ruvalcaba syndrome, Perlman syndrome, Pallister-Killian syndrome, and many other conditions.
A previously unknown susceptibility locus was mapped and germline mutations in DIS3L2 identified in individuals with Perlman syndrome. Functional studies demonstrated that underexpression of the DIS3L2 gene was associated with cellular growth enhancement [14].
[2] proposed a classification of overgrowth syndromes by ordering them according to their typical timing of clinical presentation as follows: (a) syndromes exhibiting overgrowth in the neonatal period, including Beckwith-Wiedemann syndrome, Sotos syndrome, Weaver syndrome, and Perlman syndrome and (b) overgrowth syndromes usually identified in childhood, including Klinefelter syndrome and Proteus syndrome.
Cooper et al., "Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility," Nature Genetics, vol.
Other genetic overgrowth conditions that need to be considered in the differential diagnosis of SGBS include Sotos syndrome and Weaver and Perlman syndromes. Although these syndromes share some clinical features, it is usually possible to distinguish between them.