A novelCHST3allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred

Is Sudden Hearing Loss Associated with Atherosclerosis?

Introduction: Sudden sensorineural hearing-loss (SSNHL) patients constitute approximately 2–3% of referrals to ear, nose and throat (ENT) clinics. Several predisposing factors have been proposed for this condition; one of which is vascular disorders and perfusion compromise. In this research the atherosclerotic changes and their known risk factors are studied in SSNHL patients.   Materials and ...

Spondyloepiphyseal dysplasia tarda with progressive arthropathy.

Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is a rare autosomal recessive skeletal dysplasia affecting primarily the articular cartilage. Here we present a nine-year-old girl from Middle Anatolia (Sivas) with SEDT-PA. Her complaints were pain and progressive deformity of the joints. She had a short stature with increased thoracic kyphosis and lumbar lordosis. The r...

An adult female with spondyloepiphyseal dysplasia tarda.

Factors Associated with Vestibular Disorders in Patients with Sensorineural Hearing Loss Due to Acute Acoustic Trauma: A brief report

Background & Aim: Acute acoustic trauma is an important cause of sensorineural hearing loss (SNHL). Determination of the frequency and contributing factors for vestibular disorders is important, therefore, the current study was performed to assess these factors in patients referred to the ears, nose, and throat (ENT) clinic of one of the hospitals in Tehran, Iran, during the years 2017 to 2019....

Corneal changes in spondyloepiphyseal dysplasia tarda.

BACKGROUND A new type of corneal opacity with prominent corneal nerve fibers as an ocular complication of spondyloepiphyseal dysplasia tarda (SEDT). CASE A 58-year-old woman, diagnosed with SEDT at 5 years of age, underwent a complete ophthalmological examination. OBSERVATIONS The patient had no complaints and no history of eye disease. No relatives were reported to have suffered from SEDT....