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PubMed1996

[Diagnosis and logopedic rehabilitation in mandibulofacial dysostosis: a case report].

TCS is hereditary condition transmitted as an autosomal dominant with a high penetrance rate and variable expressivity. Over half the cases derives from new mutations. A pathological gene has been located on the chromosome 5, between locus 31 and 34 of the long arm. The clinical picture is dominated by mandible-facial impairment and by numerous associated deficits, among which a hearing deficit. Therapy requires plurispecialistic intervention, personalized according to each patients condition. The Authors report the case of a three-year-old girl with transmissive deafness and serious language retardation. The child successfully underwent logopedical therapy for three years. The Authors conclude affirming that very young patients with S. Treacher Collins-Franceschetti have a very good chance of being inserted into society furthermore improved by the absence lack of mental deficiency and by spontaneous improvement in physical appearance.

Child, Preschool↗

PubMed1996

[Techniques of iconographic documentation].

The Authors describe modalities of photography and videorecording that should be used in stapes surgery and report the solutions they adopted to get iconographic documentation of high quality standard. As regards videorecording systems, the authors used both S-VHS and U-Matic equipment; with both types high fidelity shootings are obtained in the active documentation of each phase of the operation. Moreover, U-Matic master copying guarantees a final copy of higher quality. Technical difficulties that the authors met in videorecording are connected to the restricted field of view, limited by the speculum, which may itself cause dazzling phenomena or light refraction. A 2/3 inch CCD Sony camera, with a modified ELC(Electronic Light Control), was used to get round these problems, so as to eliminate the reflection of surgical instruments. In order to build up a photographic archive, it is also possible to get slides from single pictures of the recorded tapes, although their definition quality is lower than the one obtained foff photos; these, however, must be taken with reference to precise optical parameters and in particular: for shooting view pictures low enlargements (1,6x) were used with an intermediate aperture (f44), while, to better visualize details(footplate hole, stapedial tendon), it was considered right to u se restricted frames (2,5x) and a low aperture (f22). Such a technical solution, in fact, gives a better relation between depth of field and brightness. Finally the Authors underline that the constant use of the intraoperative videorecording system allows: greater participation of every member of the team in the operation; a delayed critical revision of th e operation; medico-legal documentation of possible intraoperative complications; iconographic material available both for scientific and didactic purposes.

Humans↗

PubMed1989

[Not Available].

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History, Modern 1601-↗