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mandibulofacial dysostosis [1 record]
Record 1 - internal organization data 2011-10-31
Record 1, English
Record 1, Subject field(s)
- Ear, Nose and Larynx (Medicine)
Record 1, Main entry term, English
- mandibulofacial dysostosis
1, record 1, English, mandibulofacial%20dysostosis
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
Record 1, Textual support, English
Record number: 1, 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 1, English, - mandibulofacial%20dysostosis
Record number: 1, 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 1, English, - mandibulofacial%20dysostosis
Record 1, French
Record 1, Domaine(s)
- Oreille, nez et larynx (Médecine)
Record 1, Main entry term, French
- dysostose mandibulo-faciale
1, record 1, French, dysostose%20mandibulo%2Dfaciale
correct, feminine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
- dysostose mandibulofaciale 2, record 1, French, dysostose%20mandibulofaciale
correct, feminine noun
Record 1, Textual support, French
Record number: 1, 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 1, French, - dysostose%20mandibulo%2Dfaciale
Record number: 1, 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 1, French, - dysostose%20mandibulo%2Dfaciale
Record 1, Spanish
Record 1, Textual support, Spanish
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