PMC3532604_01
(a) Photograph with arrowheads indicating symphalangism in the hands of patient #991. (b) Audiograms from patient #991 showing conductive hearing loss.
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S1a), patient #991 was diagnosed with symmetric conductive hearing loss of 50 dB (Fig. 1b) at the age of 6 years. The X-ray presented in Fig. 1 shows symphalangism in the PIP joints of the second to fifth fingers of both hands and in the distal interphalangeal (DIP) joints of the left second and fifth fingers and of the right fifth finger. The ankylosis was confirmed by X-ray examination (Fig. 1a).
(a) Photograph with arrowheads indicating symphalangism in the hands of patients #3925 and #3926. (b) Audiograms from patients #3925 and #3926 showing conductive hearing loss.
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Audiograms indicated bilateral mixed hearing loss (Fig. 2b). The ankylosis was confirmed by X-ray examination (Fig. 2a).
PMC3532604_02
(a) Photograph with arrowheads indicating symphalangism in the hands of patients #4106. (b) Audiograms from patients #4106 and #4351 showing conductive hearing loss.
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In addition to conductive hearing loss (Fig. 3b), the family members were associated with the following clinical phenotype in various degrees: hyperopia, broad thumbs and first toes, symphalangism, syndactyly, and fused cervical vertebrae (Fig.