About: Perlman syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : yago:Illness114061805, within Data Space : dbpedia.org associated with source document(s)
QRcode icon
http://dbpedia.org/describe/?url=http%3A%2F%2Fdbpedia.org%2Fresource%2FPerlman_syndrome

Perlman syndrome (PS) (also called renal hamartomas, nephroblastomatosis and fetal gigantism) is a rare overgrowth disorder present at birth. It is characterized by polyhydramnios and fetal overgrowth, including macrocephaly, neonatal macrosomia, visceromegaly, dysmorphic facial features, and an increased risk for Wilms' tumor at an early age. The prognosis for Perlman syndrome is poor and it is associated with a high neonatal mortality.

AttributesValues
rdf:type
rdfs:label
  • Perlman-Syndrom
  • Perlman syndrome
  • Sindrome di Perlman
  • Zespół Perlmana
  • Síndrome de Perlman
rdfs:comment
  • Das Perlman-Syndrom ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen Nephroblastom und Makrosomie und gehört zu den Erkrankungen mit fetalem Riesenwuchs. Die Erstbeschreibung erfolgte im Jahre 1970 durch die Israelischen Pathologen Erich Liban und Isidoro L. Kozenitzky.Die Bezeichnung bezieht sich auf den Erstautor einer Beschreibung aus dem Jahre 1973 durch den israelischen Pädiater Max Perlman und Mitarbeiter.
  • La sindrome di Perlman è una rara patologia che si presenta alla nascita (circa 30 pazienti al mondo) collegabile unicamente mutazioni del gene DIS3L2.
  • Síndrome de Perlman é um transtorno de crescimento presente durante o nascimento. Caracteriza-se pelo poli-hidrâmnio, um tipo de excesso de líquido amniótico e crescimento excessivo fetal, incluindo macrocefalia, macrossomia neonatal, visceromegalia, transtorno dismórfico corporal e nefroblastoma.
  • Zespół Perlmana (hamartomata nerki, nefroblastomatoza i gigantyzm płodowy, ang. Perlman syndrome, renal hamartomas, nephroblastomatosis and fetal gigantism) – rzadki zespół wad wrodzonych, charakteryzujący się nadmiernym prenatalnym wzrostem, makrosomią w okresie noworodkowym, makrocefalią, wisceromegalią, nefroblastomatozą i predyspozycją do guza Wilmsa. Został opisany po raz pierwszy na początku lat 70. niezależnie przez Lebana i Kozenitsky'ego oraz Perlmana i wsp. u dzieci z małżeństw spokrewnionych .
  • Perlman syndrome (PS) (also called renal hamartomas, nephroblastomatosis and fetal gigantism) is a rare overgrowth disorder present at birth. It is characterized by polyhydramnios and fetal overgrowth, including macrocephaly, neonatal macrosomia, visceromegaly, dysmorphic facial features, and an increased risk for Wilms' tumor at an early age. The prognosis for Perlman syndrome is poor and it is associated with a high neonatal mortality.
foaf:name
  • Perlman syndrome
name
  • Perlman syndrome
foaf:isPrimaryTopicOf
dct:subject
Wikipage page ID
Wikipage revision ID
Link from a Wikipage to another Wikipage
sameAs
dbp:wikiPageUsesTemplate
caption
  • Perlman syndrome has an autosomal recessive pattern of inheritance.
synonyms
  • Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome
has abstract
  • Das Perlman-Syndrom ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen Nephroblastom und Makrosomie und gehört zu den Erkrankungen mit fetalem Riesenwuchs. Die Erstbeschreibung erfolgte im Jahre 1970 durch die Israelischen Pathologen Erich Liban und Isidoro L. Kozenitzky.Die Bezeichnung bezieht sich auf den Erstautor einer Beschreibung aus dem Jahre 1973 durch den israelischen Pädiater Max Perlman und Mitarbeiter.
  • La sindrome di Perlman è una rara patologia che si presenta alla nascita (circa 30 pazienti al mondo) collegabile unicamente mutazioni del gene DIS3L2.
  • Perlman syndrome (PS) (also called renal hamartomas, nephroblastomatosis and fetal gigantism) is a rare overgrowth disorder present at birth. It is characterized by polyhydramnios and fetal overgrowth, including macrocephaly, neonatal macrosomia, visceromegaly, dysmorphic facial features, and an increased risk for Wilms' tumor at an early age. The prognosis for Perlman syndrome is poor and it is associated with a high neonatal mortality. Perlman syndrome is an uncommon genetic disorder grouped with overgrowth syndrome in which an abnormal increase is often noted at birth in the size of the body or a body part of the infant. The disorder, also called renal hamartomas, nephroblastomatosis and fetal gigantism, has also been grouped with Renal cell carcinoma. The characteristic features include polyhydramnios, fetal overgrowth, including macrocephaly, neonatal macrosomia, visceromegaly, dysmorphic facial features, and an increased risk for Wilms' tumor at an early age.
  • Síndrome de Perlman é um transtorno de crescimento presente durante o nascimento. Caracteriza-se pelo poli-hidrâmnio, um tipo de excesso de líquido amniótico e crescimento excessivo fetal, incluindo macrocefalia, macrossomia neonatal, visceromegalia, transtorno dismórfico corporal e nefroblastoma.
Faceted Search & Find service v1.17_git51 as of Sep 16 2020


Alternative Linked Data Documents: PivotViewer | ODE     Content Formats:       RDF       ODATA       Microdata      About   
This material is Open Knowledge   W3C Semantic Web Technology [RDF Data] Valid XHTML + RDFa
OpenLink Virtuoso version 08.03.3319 as of Dec 29 2020, on Linux (x86_64-centos_6-linux-glibc2.12), Single-Server Edition (61 GB total memory)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2021 OpenLink Software