[Kniest syndrome. An audiological study].
In this syndrome there is a disproportionate dwarfism with kyphoscoliosis, stiffness of the joints, minor facial dysmorphia, myopia and both conductive and sensorineural deafness in 50 percent of patients. It is a dominant autosomic heritable malady of unknown incidence, but both sexes seems equally affected. The patient's condition is diagnosed at birth, because of the short limbs and the enlargement of the joints. In the presented case, diagnosed at birth, the deafness was suppose to be transmissive, owing to the coexistence of a cleft palate, and consequently a grommet was inserted in the tympanum. Only afterwards, when the girl was 12 years old, the cochlear component of the hypoacusis fell in consideration.
Barona
R
R
Hospital General Universitario, Servicio de O.R.L., Facultad de Medicina, Valencia.
Armengot
M
M
Garín
L
L
Montalt
J
J
Basterra
J
J
D001299:Audiometry; D002648:Child; D002972:Cleft Palate / Q000150:complications; D003051:Cochlea / Q000503:physiopathology*; D004392:Dwarfism / Q000150:complications / Q000175:diagnosis*; D004432:Ear, Middle / Q000503:physiopathology*; D005260:Female; D006314:Hearing Loss, Conductive / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D006801:Humans; D007738:Kyphosis / Q000150:complications / Q000175:diagnosis; D008141:Lordosis / Q000150:complications / Q000175:diagnosis; D010034:Otitis Media with Effusion / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D012600:Scoliosis / Q000150:complications / Q000175:diagnosis; D013577:Syndrome
Síndrome de kniest. Estudio audiológico.