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MICROTIA [4 records]
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
Record 2 - internal organization data 2016-01-15
Record 2, English
Record 2, Subject field(s)
- The Ear
- Hearing
Record 2, Main entry term, English
- unilateral microtia
1, record 2, English, unilateral%20microtia
correct
Record 2, Abbreviations, English
Record 2, Synonyms, English
Record 2, Textual support, English
Record number: 2, Textual support number: 1 CONT
Children with unilateral microtia usually have normal hearing in their other ear, although this must be confirmed with hearing tests at a young age. Having normal hearing in only one ear will not usually cause any speech and language delay, and there are strategies to make the most of the child's hearing while at school, for instance. 1, record 2, English, - unilateral%20microtia
Record 2, French
Record 2, Domaine(s)
- Oreille
- Ouïe
Record 2, Main entry term, French
- microtie unilatérale
1, record 2, French, microtie%20unilat%C3%A9rale
correct, feminine noun
Record 2, Abbreviations, French
Record 2, Synonyms, French
Record 2, Textual support, French
Record number: 2, Textual support number: 1 OBS
La microtie unilatérale rentre dans le cadre des malformations otomandibulaires. Elles peuvent être associées à l’absence du pavillon de l’oreille, du conduit auditif externe et du tympan. 1, record 2, French, - microtie%20unilat%C3%A9rale
Record 2, Spanish
Record 2, Textual support, Spanish
Record 3 - internal organization data 2016-01-15
Record 3, English
Record 3, Subject field(s)
- The Ear
- Hearing
Record 3, Main entry term, English
- bilateral microtia
1, record 3, English, bilateral%20microtia
correct
Record 3, Abbreviations, English
Record 3, Synonyms, English
Record 3, Textual support, English
Record number: 3, Textual support number: 1 CONT
In bilateral cases, children are at risk of greater hearing loss, which can lead to poor speech development. Children with bilateral microtia require earlier intervention [and] often use bone-conducting hearing aids before undergoing surgical treatment. 1, record 3, English, - bilateral%20microtia
Record 3, French
Record 3, Domaine(s)
- Oreille
- Ouïe
Record 3, Main entry term, French
- microtie bilatérale
1, record 3, French, microtie%20bilat%C3%A9rale
correct, feminine noun
Record 3, Abbreviations, French
Record 3, Synonyms, French
Record 3, Textual support, French
Record number: 3, Textual support number: 1 CONT
Quand la microtie atteint les deux côtés, le développement de la parole et l’apprentissage de la langue peuvent être affectés. Si votre enfant souffre d’une microtie bilatérale avec perte d’audition des deux côtés, il est important d’améliorer son audition, avec une prothèse auditive à conduction osseuse, le plus tôt possible. 1, record 3, French, - microtie%20bilat%C3%A9rale
Record 3, Spanish
Record 3, Textual support, Spanish
Record 4 - internal organization data 2011-10-31
Record 4, English
Record 4, Subject field(s)
- Ear, Nose and Larynx (Medicine)
Record 4, Main entry term, English
- mandibulofacial dysostosis
1, record 4, English, mandibulofacial%20dysostosis
correct
Record 4, Abbreviations, English
Record 4, Synonyms, English
Record 4, Textual support, English
Record number: 4, Textual support number: 1 DEF
A hereditary disorder occurring in two forms : the complete form(Franceschetti's 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 auto-somal dominant trait. The incomplete form(Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. 2, record 4, English, - mandibulofacial%20dysostosis
Record number: 4, Textual support number: 1 CONT
The syndrome... consists of certain associated congenital and familial deformities of the ears, malar bones, lips, chin and lower eyelids.... There may be microtia, meatal atresia and auricular fistulae. Malformation of the middle and inner ear produces conductive or perceptive deafness.... 3, record 4, English, - mandibulofacial%20dysostosis
Record 4, French
Record 4, Domaine(s)
- Oreille, nez et larynx (Médecine)
Record 4, Main entry term, French
- dysostose mandibulo-faciale
1, record 4, French, dysostose%20mandibulo%2Dfaciale
correct, feminine noun
Record 4, Abbreviations, French
Record 4, Synonyms, French
- dysostose mandibulofaciale 2, record 4, French, dysostose%20mandibulofaciale
correct, feminine noun
Record 4, Textual support, French
Record number: 4, Textual support number: 1 DEF
[...] maladie héréditaire dominante, avec anomalies de la face, de la bouche et des oreilles, due à une hypoplasie osseuse qui porte surtout sur les os malaires (pommettes). 1, record 4, French, - dysostose%20mandibulo%2Dfaciale
Record number: 4, Textual support number: 1 OBS
Le nez paraît important en raison de l'hypoplasie de l'étage moyen mais les narines sont étroites et les cartilages alaires, hypoplasiques. La bouche est trop grande et des fissures borgnes s'ouvrent entre les commissures et les oreilles. Les dents sont mal plantées, une division palatine est fréquente. La micrognathie est constante et importante. Le pavillon de l'oreille est malformé, hypoplasique avec une atrésie du canal auditif, des appendices et fistules pré-auriculaires. Ces anomalies s'accompagnent d'altérations des osselets responsables d'une surdité de conduction. [...] La transmission est dominante autosomique à expression très variable. 2, record 4, French, - dysostose%20mandibulo%2Dfaciale
Record 4, Spanish
Record 4, Textual support, Spanish
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