Cervico-oculo-acoustic Dysplasia

Wildervanck or cervico-oculo-acoustic syndrome and MRI findings.

In 1952, Wildervanck described the first case of what he styled the cervico-oculo-acoustic (COA) syndrome. This comprises Klippel Feil's (KF) anomaly (congenitally fused cervical vertebrae), congenital sensorineural deafness and Duane's retraction syndrome (deficient abduction with retraction on adduction). Since that original paper, there have been further reports describing this triad, either...

Cervico-oculo-acusticus syndrome with pseudopapilloedema.

The triad of the Klippel-Feil anomaly, Duane's retraction syndrome, and deaf-mutism was described by Wildervanck (1960) as the cervico-oculoacusticus syndrome. The Klippel-Feil anomaly essentially comprises a variety of bony deformities of the cervical spine, usually involving fusion, which appear clinically as a short neck with a limited range of movements of the head and neck and a low poster...

Oculo-auricular cranial dysplasia.

GOLDENHAR (1952) reviewed the literature relating to a syndrome consisting of epibulbar dermoids or lipodermoids, auricular appendices, and certain skeletal anomalies. Forty such cases or variants thereof have so far been recorded and Sugar (1966) added three more. We have recently seen an infant with ocular epibulbar dermoids, auricular appendices, congenital hydrocephalus, meningo-encephaloce...

Uterus Dysplasia Associated with Cervico-Vaginal Agenesis

Müllerian ducts can form upper parts of normal female reproductive system and any failure in ductal fusion may lead to Müllerian Duct Anomalies (MDA). We present a case of MDA, a uterus dysplasia with no evidence of cervical or upper vaginal tissue. This case illustrates the role of Magnetic Resonance Imaging (MRI) on MDA diagnosis and urges the need for a unified reliable and practical classif...

Clinical aspects of oculo-auriculo-vertebral dysplasia.