| Autor: |
Portmann D; Institut G. Portmann, Bordeaux, France., Marraco M, Lacombe D, Taine L, Gadan C, Siberchicot F |
| Jazyk: |
francouzština |
| Zdroj: |
Revue de laryngologie - otologie - rhinologie [Rev Laryngol Otol Rhinol (Bord)] 1997; Vol. 118 (4), pp. 273-8. |
| Abstrakt: |
The DiGeorge syndrome presents clinically as a combination of a congenital cardiopathy with immune deficiency and predisposition to infections, signs of hypoparathyroidis with severe hypocalcaemia in the neonatal period, and facial dysmorphism. New techniques in molecular cytogenetics (in-situ fluorescent hybridisation--FISH) have provided evidence of microdeletion of chromosome 22q11 in most cases of the DiGeorge syndrome. There is an important overlap between this syndrome, the velo-cardio-facial syndrome, and certain other cono-truncal cardiac anomalies which are linked with the same microdeletion syndrome. Basing their observation on a case of the partial syndrome, the authors emphasise the otological and maxillo-facial aspects, and especially the effects on speech and language. It is essential to carry out repeated audiometric testing to exclude an audiometric cause for the speech and language problems. At the same time, thorough speech and language assessment is necessary to establish the degree of velar insufficiency (rhinolalia). These will guide the speech therapy rehabilitation, and quantify the psycho-affective component. Surgery on the palate may be a possibility, depending on the progress in speech and language improvement. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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