Spondyloepiphyseal Dysplasia Congenita Associated with Conductive Hearing Loss

A case report of spondyloepiphyseal dysplasia congenita.

Spondyloepiphyseal dysplasia congenita (SED) is a rare form of skeletal systemic disease, characterized by congenital dwarfism with a short trunk and epiphysial dysplasia in the long bones and vertebral bodies. Patients also frequently suffer from atlanto-axial instability due to os odontoideum. Compression of the spinal cord caused by atlanto-axial instability is a common, serious complication...

SPONDİLOEPİFİZYAL DİSPLAZYA KONJENİTA (Olgu Sunumu) SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA (Case Report)

Spondiloepifizyal displazya konjenitalı, karakteristik olarak normal eller ve ayaklar, paytak yürüyüş, pektus karinatus, kısa boyun ve yassı yüzlü 7 yaşında bir erkek vaka sunuldu. Radyolojik bulgular epifizler ve metafizlerde nokta kalsifikasyonlar, sklerotik ve radyolusent bölgelerle metafizin genişlemesiyle metafizyel disorganizasyon, generalize osteopeni ve geri kalmış kemik yaşını içerir. ...

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 ...

Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita.

A male infant with lethal short limbed dwarfism is described. His father had spondyloepiphyseal dysplasia congenita and his mother had achondroplasia. It is believed that the infant inherited both of these disorders and that their combined effects resulted in early death owing primarily to severe pulmonary hypoplasia.

Autosomal dominant asymmetrical radial dysplasia, dysmorphic facies, and conductive hearing loss (facioauriculoradial dysplasia).