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SYNDROME PERLMAN [1 record]

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Record 1 2019-12-05

English

Subject field(s)
  • Human Diseases - Various
  • Genetics
DEF

... a rare autosomal recessively inherited congenital overgrowth syndrome characterized by polyhydramnios, macrosomia, characteristic facial dysmorphology, renal dysplasia and nephroblastomatosis, and multiple congenital anomalies.

OBS

Perlman syndrome is associated with high neonatal mortality, and survivors have developmental delay and a high risk of Wilms tumor.

French

Domaine(s)
  • Maladies humaines diverses
  • Génétique
DEF

Syndrome congénital rare à transmission autosomique récessive caractérisé par un polyhydramnios, une macrosomie, une dysmorphologie faciale caractéristique, une dysplasie rénale et une néphroblastomatose, ainsi que de multiples anomalies congénitales.

OBS

Des mutations germinales du gène DIS3L2 sont à l'origine de ce syndrome.

Spanish

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