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FRANCESCHETTIS DISEASE [1 record]
Record 1 - internal organization data 2017-04-26
Record 1, English
Record 1, Subject field(s)
- Genetics
Universal entry(ies) Record 1
Record 1, Main entry term, English
- Franceschetti's disease 1, record 1, English, Franceschetti%27s%20disease
Record 1, Abbreviations, English
Record 1, Synonyms, English
Record 1, Textual support, English
Record number: 1, Textual support number: 1 DEF
The complete form of a hereditary disorder which is called mandibulofacial dysostosis. The Franceschetti syndrome is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal dominant trait. 1, record 1, English, - Franceschetti%27s%20disease
Record number: 1, Textual support number: 1 CONT
(Trisomy 18) Finally, the small lower jaw gives a receding chin suggestive of Franceschetti's disease. 1, record 1, English, - Franceschetti%27s%20disease
Record 1, French
Record 1, Domaine(s)
- Génétique
Entrée(s) universelle(s) Record 1
Record 1, Main entry term, French
- maladie de Franceschetti
1, record 1, French, maladie%20de%20Franceschetti
feminine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
- fundus flavimaculatus de Franceschetti et François 1, record 1, French, fundus%20flavimaculatus%20de%20Franceschetti%20et%20Fran%C3%A7ois
Record 1, Textual support, French
Record number: 1, Textual support number: 1 DEF
Affection du fond d'œil se caractérisant par la présence, au niveau ou autour du pôle postérieur (parfois à la périphérie), de taches jaunes situées dans les couches profondes de la rétine, disséminées ou groupées en grappe, de forme variable (arrondie, allongée, ou étoilée). 1, record 1, French, - maladie%20de%20Franceschetti
Record number: 1, Textual support number: 1 CONT
(Trisomie 18) Enfin, la mâchoire inférieure est petite, le menton nettement en retrait sur le massif facial donnant un aspect pouvant rappeler la maladie de Franceschetti. 1, record 1, French, - maladie%20de%20Franceschetti
Record 1, Spanish
Record 1, Textual support, Spanish
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