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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1

Fig. 2

The temporal bone CT scans, pure-tone audiometry curves and fundus colour photographs of adult patients (II3: ac, I2: df, II3: gi) in Family 1,908,322. The temporal bone CT of the proband (II3) revealed that the structure of bilateral auditory ossicles was abnormal with disproportionate short incus bodies (a). Pure tone audiometry curves showed that the proband (II3) suffered from profound hearing impairment in all frequencies (b) and her mother (I2) had mild hearing loss in high frequencies (e). The fundus colour photograph of the proband (II3) demonstrated that arc-shaped atrophy spots can be seen around the optic papilla, strong white reflection of the nerve fibre layer can be seen, the macular vascular arch is stiff, and a lot of yellow-white exudative changes (c). The temporal bone CT scans and fundus colour photographs of I2 and II3 were normal (d, f, g, i). The pure tone audiometry of II3 was normal (h)

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