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osteogenesis imperfecta [1 record]

Record 1 1998-04-28

English

Subject field(s)
  • Bones and Joints
DEF

A condition of abnormal fragility and plasticity of bone, with recurring fractures on minimal trauma, deformity of long bones, usually bluish color of sclerae, and in many cases, the development of otosclerosis; there is extreme variation in severity and clinical findings; inheritance is autosomal dominant in most families, but a rare autosomal recessive type also exists.

French

Domaine(s)
  • Os et articulations
DEF

Variété d'ostéodysplasie structurale héréditaire entraînant une ostéoporose généralisée sévère, se traduisant par de multiples fractures spontanées et des déformations osseuses. Il s'y associe presque toujours une coloration bleue des sclérotiques et parfois une surdité (syndrome ou triade de Van der Hoeve). L'affection comporte des degrés de gravité variables qui ont fait artificiellement distinguer deux formes : l'ostéogénèse imparfaite congénitale et l'ostéogénèse imparfaite tardive. [D'après MEDEC, 1989, p. 601.]

Spanish

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