Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss.

In contrast to relatively mild morbidity in most males, additional medical problems such as short stature, mixed conductive and sensorineural hearing loss, abnormal cognitive development, and possibly significant complications such as airway stenosis and cervical spine instability with compression of the cervical spine cord, have been described in some cases.

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