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SYNDROME CROUZON [1 record]
Record 1 - internal organization data 2017-05-19
Record 1, English
Record 1, Subject field(s)
- Human Diseases - Various
- Genetics
Record 1, Main entry term, English
- Crouzon syndrome
1, record 1, English, Crouzon%20syndrome
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
- craniofacial dysostosis 2, record 1, English, craniofacial%20dysostosis
correct
Record 1, Textual support, English
Record number: 1, Textual support number: 1 DEF
An autosomal-dominant phenotype of ossified cartilages and various anomalies of the face, particularly protruding eyeballs. 1, record 1, English, - Crouzon%20syndrome
Record 1, French
Record 1, Domaine(s)
- Maladies humaines diverses
- Génétique
Record 1, Main entry term, French
- syndrome de Crouzon
1, record 1, French, syndrome%20de%20Crouzon
correct, masculine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
Record 1, Textual support, French
Record number: 1, Textual support number: 1 CONT
Le syndrome de Crouzon se caractérise par une acrocéphalie (malformation du crâne qui est allongé vers le haut) avec un front haut et une bosse frontale médiane. Y sont associées une exophtalmie (retrait anormal de l'œil à l'extérieur de son orbite) majeure, un hypertélorisme (augmentation anormale de l'espace entre les yeux) ainsi qu'un strabisme (défaut de parallélisme des axes optiques) divergent. 1, record 1, French, - syndrome%20de%20Crouzon
Record 1, Spanish
Record 1, Campo(s) temático(s)
- Enfermedades humanas varias
- Genética
Record 1, Main entry term, Spanish
- síndrome de Crouzon
1, record 1, Spanish, s%C3%ADndrome%20de%20Crouzon
correct, masculine noun
Record 1, Abbreviations, Spanish
Record 1, Synonyms, Spanish
Record 1, Textual support, Spanish
Record number: 1, Textual support number: 1 DEF
Malformación craneofacial asociada al cierre prematuro de las suturas craneales, [presenta] acortamiento del cráneo y abombamiento en su parte anterior, [es una] enfermedad hereditaria autosómica dominante, por mutación en el brazo corto del cromosoma 10 que origina la alteración del receptor. 1, record 1, Spanish, - s%C3%ADndrome%20de%20Crouzon
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