TERMIUM Plus®

The Government of Canada’s terminology and linguistic data bank.

ACHONDROPLASIE [7 records]

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

Save record 1

Record 2 2012-03-09

English

Subject field(s)
  • Symptoms (Medicine)
  • Musculoskeletal System
DEF

Disproportionate dwarfism characterized by small limbs, as seen in achondroplasia.

French

Domaine(s)
  • Symptômes (Médecine)
  • Appareil locomoteur (Médecine)
DEF

Forme de nanisme, observée dans l'achondroplasie, et caractérisée par la brièveté des membres inférieurs et supérieurs.

Spanish

Campo(s) temático(s)
  • Síntomas (Medicina)
  • Sistema musculoesquelético (Medicina)
Save record 2

Record 3 2012-02-01

English

Subject field(s)
  • Symptoms (Medicine)
  • Musculoskeletal System
DEF

The hand in which all digits tend to be of equal length, and are somewhat splayed at the first interphalangeal joint.

French

Domaine(s)
  • Symptômes (Médecine)
  • Appareil locomoteur (Médecine)
DEF

Main dont les doigts sont d’égale longueur et tellement gonflés à leur base que leurs extrémités ont tendance à s’écarter les unes des autres. Elle s’observe dans l'achondroplasie.

Spanish

Campo(s) temático(s)
  • Síntomas (Medicina)
  • Sistema musculoesquelético (Medicina)
Save record 3

Record 4 2010-04-20

English

Subject field(s)
  • Genetics
CONT

Exclusive paternal origin of new mutations in Apert syndrome.

CONT

Progressive muscular dystrophy (PMD) is a group of inherited diseases marked by wasting and progressive weakness of the skeletal muscles. The involvement of other organs such as cardiac insufficiency and dilation of stomach can also be demonstrated by a careful examination. The genetic cause may be inherited by three modes of inheritance pattern (dominant, recessive, X-linked), or the gene may also be defective due to a new mutation.

French

Domaine(s)
  • Génétique
CONT

Comme l'achondroplasie, le syndrome d’Apert, maladie autosomique dominante, est rarement héritée d’un parent malade, mais survient le plus souvent de façon sporadique par néomutation chez un enfant issu de parents indemnes mais plus agés que la moyenne des couples.

Spanish

Save record 4

Record 5 1994-01-24

English

Subject field(s)
  • Symptoms (Medicine)
  • Musculoskeletal System
DEF

A condition in which the fingers are of relatively even length.

French

Domaine(s)
  • Symptômes (Médecine)
  • Appareil locomoteur (Médecine)
DEF

Égalité de longueur des doigts, observée notamment dans l'achondroplasie [...]

Spanish

Campo(s) temático(s)
  • Síntomas (Medicina)
  • Sistema musculoesquelético (Medicina)
Save record 5

Record 6 1992-09-16

English

Subject field(s)
  • Radiography (Medicine)
  • Musculoskeletal System
DEF

The pelvis, as seen in achondroplasia, the width of the pelvic inlet exceeding its depth. [From TAPED, 1972, p. 286.]

French

Domaine(s)
  • Radiographie (Médecine)
  • Appareil locomoteur (Médecine)
DEF

Bassin aplati dont la hauteur est diminuée, observé dans l'achondroplasie.

Spanish

Save record 6

Record 7 1988-12-08

English

Subject field(s)
  • Veterinary Medicine
CONT

Other forms of chondrodystrophy, including "bulldog calves" and one which cause fatal nasal obstruction in the German Black spotted breed of cattle have also been recorded.

French

Domaine(s)
  • Médecine vétérinaire
CONT

D'autres formes d’achondroplasie, comprenant les veaux «bouledogues» et une autre anomalie entraînant une obstruction nasale mortelle dans la race allemande Tachetée de Noir, ont été signalées.

OBS

Le syndrome «bouledogue» est une forme de nanisme achondroplasique héréditaire.

Spanish

Save record 7

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