[ENT changes in Crouzon's syndrome].
Crouzon's syndrome is a chapter of the craneosynostosis, congenital diseases characterized for the precocious closure of cranial sutures. It represents an autosomal dominant heredity. Recently has been find out that the mutation lies in the short arm of chromosome 10, which causes the alteration of type 2 receptor of growth factor of fibroblasts (FRFG2). Clinically together with the cranial deformities appear frequently malformations in ENT-sphere, but only in 3 percent of all cases has been observed otic changes. We present the case of a young girl of 16, bearing a Crouzon's syndrome, coming to our office because of bilateral hypacusis. Clinical examination and complementary tests showed bilateral atresia of both auditive meatus lack of mastoid pneumatization, anomalous facial route and heavy bilateral transmissive hearing impairment, together with septum nasi deflection and hypoplasy of paranasal sinuses.
Campos Del Alamo
M A
MA
Hospital Miguel Servet de Zaragoza.
Pérez Obón
J
J
Gil Paraíso
P
P
Marín García
J
J
Damborenea Tajada
J
J
Llorente Arenas
E
E
Alfaro García
J
J
Martínez-Berganza y Asensio
R
R
Asensio
D000293:Adolescent; D001301:Audiometry, Pure-Tone; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D003394:Craniofacial Dysostosis / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D015508:Nasal Obstruction / Q000175:diagnosis / Q000209:etiology*; D009300:Nasal Septum / Q000002:abnormalities; D017354:Point Mutation / Q000235:genetics; D014057:Tomography, X-Ray Computed