[Mondini dysplasia without functional impairment in the framework of a CHARGE association].
A male child with fully developed CHARGE association was referred to our hospital several times because of choanal atresia and suspected hearing loss in his first two years of life. As far as they are a main symptom malformations of the ear appear frequently in CHARGE association. This report describes that an obvious anatomic dysplasia of the inner ear can have normal function, which is shown by objective measurement.


RESULTS
Computed tomography of the petrous bone showed bilateral Mondini malformation of the cochlea combined with bulky deformation of middle ear ossicles. By the age of one year brainstem evoked response audiometry (BERA) was performed. The result demonstrated a hearing loss of 60 dB on the right ear, but no measurable hearing loss on the left ear.


CONCLUSIONS
This case report proves that a Mondini-type malformation of the cochlea does not need to be combined with hearing loss.
Acham
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A
HNO-Universitätsklinik Graz. andreas.acham@klinikum-graz.at
Walch
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C
D000015:Abnormalities, Multiple; D001300:Audiometry, Evoked Response; D002754:Choanal Atresia / Q000150:complications*; D003051:Cochlea / Q000002:abnormalities*; D003103:Coloboma / Q000150:complications*; D003456:Cryptorchidism / Q000150:complications*; D003638:Deafness / Q000151:congenital* / Q000175:diagnosis; D004429:Ear Ossicles / Q000002:abnormalities*; D004431:Ear, External / Q000002:abnormalities*; D006309:Hearing / Q000502:physiology*; D034381:Hearing Loss / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008297:Male; D010579:Petrous Bone / Q000000981:diagnostic imaging; D013577:Syndrome; D014057:Tomography, X-Ray Computed