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MALADIE FANCONI [1 record]

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Record 1 2010-03-10

English

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

A rare recessive disorder with a poor prognosis, characterized by pancytopenia, bone marrow hypoplasia, and patchy brown skin discoloration due to deposition of melanin, as well as multiple congenital anomalies of the musculoskeletal and genitourinary systems.

French

Domaine(s)
  • Maladies humaines diverses
  • Génétique
DEF

Affection rare, de transmission héréditaire autosomique récessive, dont les symptômes chez les patients homozygotes associent des malformations congénitales du squelette (anomalies hexadactyles), des reins (fusionnés en fer à cheval), la présence de taches pigmentées sur la peau et surtout une pancytopénie progressive, par insuffisance de production de la moelle osseuse apparaissant au cours de la première décennie de la vie.

Spanish

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