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FRAGILITE OSSEUSE HEREDITAIRE [2 records]
Record 1 - internal organization data 2007-12-22
Record 1, English
Record 1, Subject field(s)
- Bones and Joints
Record 1, Main entry term, English
- osteopetrosis
1, record 1, English, osteopetrosis
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
- Albers-Schönberg disease 2, record 1, English, Albers%2DSch%C3%B6nberg%20disease
correct
- marble bones 2, record 1, English, marble%20bones
correct
- ivory bones 3, record 1, English, ivory%20bones
correct
Record 1, Textual support, English
Record number: 1, Textual support number: 1 DEF
A hereditary disorder characterized by pronounced sclerosis of all the bones. It is primarily due to a defect in absorption of primary spongiosa in the process of enchondral bone formation. Bandlike areas of compact bone form at the epiphyseal lines of the long bones which are flask shaped and broadened at both ends. Multiple fractures often occur as a result of increased bone fragility. 4, record 1, English, - osteopetrosis
Record 1, French
Record 1, Domaine(s)
- Os et articulations
Record 1, Main entry term, French
- ostéopétrose
1, record 1, French, ost%C3%A9op%C3%A9trose
correct, feminine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
- maladie d’Albers-Schönberg 1, record 1, French, maladie%20d%26rsquo%3BAlbers%2DSch%C3%B6nberg
correct, feminine noun
- maladie des os de marbre 1, record 1, French, maladie%20des%20os%20de%20marbre
correct, feminine noun
- ostéopétrose génotypique 1, record 1, French, ost%C3%A9op%C3%A9trose%20g%C3%A9notypique
correct, feminine noun
Record 1, Textual support, French
Record number: 1, Textual support number: 1 DEF
Maladie osseuse héréditaire et familiale, caractérisée principalement par une ostéosclérose généralisée provenant, semble-t-il, d’un défaut de la résorption ostéoclastique. Elle est caractérisée cliniquement par une fragilité anormale des os, entraînant des fractures à répétition, et radiologiquement par une hyperopacité diffuse du squelette, avec hypertrophie en masse et striation transversale des métaphyses. 2, record 1, French, - ost%C3%A9op%C3%A9trose
Record 1, Spanish
Record 1, Campo(s) temático(s)
- Huesos y articulaciones
Record 1, Main entry term, Spanish
- osteopetrosis
1, record 1, Spanish, osteopetrosis
correct, feminine noun
Record 1, Abbreviations, Spanish
Record 1, Synonyms, Spanish
Record 1, Textual support, Spanish
Record number: 1, Textual support number: 1 DEF
Enfermedad congénita presente desde el nacimiento en la que los huesos son superdensos [que resulta] de un desequilibrio entre la formación de hueso y la destrucción de hueso, procesos ambos necesarios para el desarrollo y mantenimiento de un hueso normal. 1, record 1, Spanish, - osteopetrosis
Record number: 1, Textual support number: 1 CONT
En la osteopetrosis, las células que destruyen el hueso, los osteoclastos, generalmente se encuentran en menor número o son menos eficaces en la destrucción de hueso. 1, record 1, Spanish, - osteopetrosis
Record 2 - internal organization data 1998-04-28
Record 2, English
Record 2, Subject field(s)
- Bones and Joints
Record 2, Main entry term, English
- osteogenesis imperfecta
1, record 2, English, osteogenesis%20imperfecta
correct
Record 2, Abbreviations, English
- OI 2, record 2, English, OI
correct
Record 2, Synonyms, English
- brittle bones 1, record 2, English, brittle%20bones
correct
- fragilitas ossium 1, record 2, English, fragilitas%20ossium
correct
Record 2, Textual support, English
Record number: 2, Textual support number: 1 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. 3, record 2, English, - osteogenesis%20imperfecta
Record 2, French
Record 2, Domaine(s)
- Os et articulations
Record 2, Main entry term, French
- ostéogénèse imparfaite
1, record 2, French, ost%C3%A9og%C3%A9n%C3%A8se%20imparfaite
correct, feminine noun
Record 2, Abbreviations, French
Record 2, Synonyms, French
- fragilité osseuse constitutionnelle 2, record 2, French, fragilit%C3%A9%20osseuse%20constitutionnelle
correct, feminine noun
- fragilité osseuse héréditaire 3, record 2, French, fragilit%C3%A9%20osseuse%20h%C3%A9r%C3%A9ditaire
correct, feminine noun
Record 2, Textual support, French
Record number: 2, Textual support number: 1 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.] 4, record 2, French, - ost%C3%A9og%C3%A9n%C3%A8se%20imparfaite
Record 2, Spanish
Record 2, Textual support, Spanish
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