PMC8850695_01
The affected patient's family pedigree and the results of a confirmatory hearing loss test. (A) Family pedigree of the index patient, showing a highly inbred family. Family has a history of Ehler Danlos syndrome and history of cardiac arrythmia. The index patient is indicated with filled square. Male and female are shown in squares and circles, respectively. (B) Threshold test indicating the level of hearing loss recorded from the auditory brainstem response (ABR), classifying it to be severe. Background colors represent the severity of hearing loss. Normal hearing (gray and white), mild hearing loss (green), moderate hearing loss (yellow), moderately severe hearing loss (orange), severe hearing loss (purple), and profound hearing loss (red). Measurements were recorded in both ears at three frequencies. Red circle indicates the value recorded in left ear, blue cross in a red circle indicates the value recorded in right ear.
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F1
Moreover, two additional audiology tests performed every 2 months showed no repeatable and reliable response even at 90dB nHL for clicks at 0.5, 1.0, 2.0, and 4 kHz tone burst in both ears, confirming a profound sensorineural hearing loss (Figure 1B). The proband also had a family history of Ehlers-Danol syndrome (EDS) and sudden cardiac death for several family members (Figure 1A).