Perlman syndrome

Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

Overgrowth

Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.


Total: 3

                       


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PMID (PMCID)
23486540
 MALE Infant, Newborn
Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.
Higashimoto K, Maeda T, Okada J, Ohtsuka Y, Sasaki K, Hirose A, Nomiyama M, Takayanagi T, Fukuzawa R, Yatsuki H, Koide K, Nishioka K, Joh K, Watanabe Y, Yoshiura K, Soejima H.
Eur J Hum Genet. 2013;21(11):1316-9.
Perlman syndrome is a rare, autosomal recessive overgrowth disorder.
20726997
 FEMALE Infant, Newborn
Rare clinical entity Perlman syndrome: is cholestasis a new finding?
Demirel G, Oguz SS, Celik IH, Uras N, Erdeve O, Dilmen U.
Congenit Anom (Kyoto). 2011;51(1):43-5.
Perlman syndrome is a rare syndrome characterized by polyhydramnios, fetal overgrowth, facial dysmorphism, visceromegaly, nephroblastomatosis and predisposition to Wilms tumor.
16278893
 FEMALE Infant, Newborn
Perlman syndrome: clinical report and nine-year follow-up.
Piccione M, Cecconi M, Giuffre M, Lo Curto M, Malacarne M, Piro E, Riccio A, Corsello G.
Am J Med Genet A. 2005;139A(2):131-5.
Main features of Perlman syndrome include polyhydramnios, fetal overgrowth, neonatal macrosomia, macrocephaly, dysmorphic facial features, visceromegaly, nephroblastomatosis, and a predisposition for Wilm's tumor.