TERMIUM Plus®

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NANISME THANATOPHORIQUE [1 record]

Record 1 2015-04-20

English

Subject field(s)
  • Human Diseases - Various
  • Bones and Joints
DEF

... short-limbed (micromelic) dwarfism that usually causes death within the first few hours after birth.

CONT

Thanatophoric dysplasia is due to a lethal mutation (change) in the same gene that produces achondroplasia, a familiar and far more common form of short-limbed dwarfism that is compatible with life.

French

Domaine(s)
  • Maladies humaines diverses
  • Os et articulations
CONT

La dysplasie thanatophore (DT) est une grave maladie du squelette qui est mortelle dans la période néo-natale. [...] La plupart des individus souffrant de DT meurent au cours des premières heures ou des premiers jours de leur vie d'une insuffisance respiratoire secondaire due à la réduction de la capacité thoracique ou à la compression du tronc cérébral.

OBS

Nanismes : dysplasie thanatophorique (TDI, TDII), achondroplasie, SADDAN (Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans), hypochondroplasie.

Spanish

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