[Goldenhar syndrome: a polymalformation syndrome with conductive hearing loss].
We report the case of a 9-years-old girl showing at examination facial asymmetry, right ear with II degree dysplasy and degree III in the left ear (according Marx classification), cleft palate, renal agenesy, scoliosis and hypoplasy of the left thumb. Otoscopically both external ear canals looked very narrow and very upright positioned. The drumhead image recalling that of chronic mucoid effusion. The measurement of hearing through pure-tone audiometry, PEATC, and tympanometry resulted in a pattern of bilateral transmissive pantonal hearing impairment accounting for 50-60 dB. Scoliosis was due either to bars or hemivertebrae or even to an atlas occipitalization. Chromosoma caryotype was normal.
Santa Cruz Ruiz
S
S
Servicio de Otorrinolaringología y Patología Cérvico-Facial, Hospital Clínico de Salamanca.
Aguirre García
F
F
Pérez Plasencia
D
D
Blanco Pérez
P
P
Guillén Guerrero
V
V
Del Cañizo Alvarez
A
A
D000015:Abnormalities, Multiple; D002648:Child; D004429:Ear Ossicles / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000601:surgery; D005260:Female; D006053:Goldenhar Syndrome / Q000175:diagnosis*; D006314:Hearing Loss, Conductive / Q000175:diagnosis*; D006801:Humans; D019933:Ossicular Replacement; D011859:Radiography; D012720:Severity of Illness Index