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achondrogenese [1 record]

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Record 1 2011-12-14

English

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

Achondrogenesis has been described in two or more autosomal-recessive forms involving deficiency in bone formation at the hip area and large head, short limbs, stillbirth or neonatal death. The phenotypes show variations, and clear-cut differentiation of the symptoms is difficult.

French

Domaine(s)
  • Maladies humaines diverses
  • Génétique
DEF

Maladie héréditaire très rare à l'origine de malformations graves du cartilage et du squelette, entraînant un nanisme incompatible avec la vie selon le type.

OBS

Les signes cliniques [de l'achondrogenèse] comprennent un nanisme avec des membres courts, un tronc court, un abdomen proéminent, une macrocéphalie, et une anasarque. Les signes radiologiques sont caractéristiques, avec une absence d'ossification du rachis, du sacrum et du bassin.

Spanish

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