Wildervanck's syndrome with severe inner ear dysplasia and agenesis of the right internal carotid artery

An Uncommon Cause of Duane Syndrome in a Child: Wildervanck Syndrome

“…These patients are rarely reported to have cerebellar hypoplasia, lower brainstem malformations, and/or triventricular hydrocephalus and even more rarely to have several associated anomalies such as congenital heart diseases, agenesis of the internal carotid artery, short stature, microcephaly, mental retardation, cleft palate, and hypoplastic frontal sinus (4,(12)(13)(14). The cranial MRI of the present case showed that the cerebellar tonsils had migrated 11 mm caudal to the foramen magnum.…”

Severe Scoliosis, Torticollis and Short Stature in a Woman with Wildervanck Syndrome (WS)/ Изразена Сколиоза, Тортиколис И Низок Раст Кај Жена Со Wildervanck Syndrome (Синдром На Вилдерванк)

“…The deafness in WS is perceptive [3,[9][10][11], sensorineural or both, but only one-third of the patients with WS have hearing loss. It is of note that our patient has the rarely observed mixed , sensorineural deafness.…”

Wildervanck syndrome: clinical case report

“…W i l d e r v a n c k s y n d r o m e o r c e r v i c ooculo-acoustic dysplasia (OMIM 314600) is characterized by the presence of Klippel-Feil anomaly (fusion of cervical vertebra with butterfly vertebra), Duane syndrome (paralysis of the sixth cranial nerve with retraction of the eyeball in adduction), and conduction, sensorineural, or mixed hearing loss. 1 In addition, other clinical features manifest with Wildervanck syndrome, such as facial asymmetry, cleft palate, bony prominences in the mandibular ramus, 2 various vascular anomalies, 3,4 heart malformations, 5 and defects in the development of the spinal cord. 6 In relation to radiological findings, different middle and inner ear malformations have been described, such as narrowing of the internal auditory canal, Mondini malformation, and vestigial remnants of the inner ear structures, as well as absence of the sixth cranial nerve.…”

“…6 In relation to radiological findings, different middle and inner ear malformations have been described, such as narrowing of the internal auditory canal, Mondini malformation, and vestigial remnants of the inner ear structures, as well as absence of the sixth cranial nerve. 4,6,7 The first cases described date back to 1952 and, to date, 90 cases have been reported. 8 Of these, most were female patients, with a 10:1 ratio.…”

“…Because of this, it has been proposed that it has an X-linked dominant inheritance pattern, so the absence of a functional gene in the hemizygous state could cause a higher case fatality rate in male patients with the syndrome. 4,6 Notwithstanding this, other types of inheritance patterns, such as autosomal dominant and polygenic, have been proposed. 7 The case of a male patient with fusion of vertebral bodies, severe bilateral hearing loss, and cochlear dysplasia with narrow internal auditory canal has been reported in Mexico.…”