VALUTAZIONE AUDIOLOGICA NELLE SINDROMI CRANIO-FACCIALI
VALUTAZIONE AUDIOLOGICA NELLE SINDROMI CRANIO-FACCIALI
VALUTAZIONE AUDIOLOGICA NELLE SINDROMI CRANIO-FACCIALI
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Mayer T.E., Brueckmann H., Siegert R., Witt A., Weerda H.; “Hight resolution CT of<br />
temporal bone in dysplasia of the auricle and external auditory canal”, Am J Neuroradiol 18,<br />
pp. 53-65, 1997<br />
Mazzoli M. et al.; “Recommendations for the Description of Genetic and Audiological Data<br />
for Families with Nonsyndromic Hereditary Hearing Impairment”, Audiological Medicine;<br />
Volume 1, Number 2 , pag: 148 – 150, May 2003<br />
McNeill KA, Wynter-Wedderbum L. Choanal atresia: a manifestation of the Treacher<br />
Collins syndrome. J Laryngol Otol 67:365-369, 1953.<br />
Melnick M et al. Autosomal dominant branchio-oto-renal dysplasia. Birth Defects 11(5):<br />
121-128, 1975.<br />
Meurmann Y.; “Congenital microtia and meatal atresia”, Arch Otolarvngol 66, pp.443,<br />
1957.<br />
Moore MH. Hanieh A. Hydrocephalus in Pfeiffer syndrome. J Clin Neurosci 1:202-204,<br />
1994<br />
Ohtani I, Schuknecht HF. Temporal bone pathology in DiGeorge's syndrome. Ann Otol<br />
Rhinol Laryngol 93:220-224, 1984<br />
Pagon RA et al: Coloboma, congenital heart disease, and choanal atresia with multiple<br />
anomalies: CHARGE association. JPediatr 99:223-227,1981.<br />
Parving A., Admiraal R.J.C., Apaydin F., Arslan E., Davis A., Dias O., Fortnum Il.,<br />
Oxford University Press, New York, pp. 64 1-648, 1990.<br />
Parving A., Newton V.; “Description of inherited hearing loss”, Journal of Audiological<br />
Medicine 4, 1995.<br />
Pfeiffer RA. Dominant erbliche Akrocephalosyndaktylie. Z Kinderheilkd 90:301-320, 1964<br />
Pinsky L. Penetrance and variability of major malformation syndromes associated<br />
with deafness. Birth Defects 15(5B):207-226, 1979<br />
Prosser S. et al.; “Le ABR in audiologia”, tratto da “Potenziali evocati uditivi basi teoriche<br />
ed applicazioni cliniche”, Martini A., Grandori F., Ed Piccin, 1995.<br />
Radford DJ et al. Spectrum of DiGeorge syndrome in patients with truncus arteriosus:<br />
expanded DiGeorge syndrome. Pediatr Cardiol 9:95-101, 1988.<br />
Rollnick B.R. et al.; “Oculo-auricolo-vertebral anomaly: variability and causal<br />
heterogeneity”, Am J Med Genet (suppl) 4,pp. 41-53, 1988.<br />
Rose CSP et al. The TWJST gene although not disrupted in Saethre-Chotzen patients with<br />
apparently balanced translocations of 7p21, is mutated in familial and sporadic cases. Hum<br />
Mol Genet 6:1369-1373, 1997.