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- 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. (de)
- 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. (en)
- La sindrome di Perlman è una rara patologia che si presenta alla nascita (circa 30 pazienti al mondo) collegabile unicamente mutazioni del gene DIS3L2. (it)
- 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 . (pl)
- 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. (pt)
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- Perlman syndrome has an autosomal recessive pattern of inheritance. (en)
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- Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome (en)
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- 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. (de)
- La sindrome di Perlman è una rara patologia che si presenta alla nascita (circa 30 pazienti al mondo) collegabile unicamente mutazioni del gene DIS3L2. (it)
- 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 . (pl)
- 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. (pt)
- 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. (en)
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- Perlman-Syndrom (de)
- Sindrome di Perlman (it)
- Perlman syndrome (en)
- Zespół Perlmana (pl)
- Síndrome de Perlman (pt)
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