Ruptured Aneurysm of the Sinus of Valsalva With Wildervanck Syndrome (Cervico-Oculo-Acoustic Syndrome), Blepharoptosis and Short Stature  Case Report

Wildervanck syndrome (WS) combines features of Klippel-Feil syndrome (KFS), sixth nerve palsy, and deafness. This is a case of a 23 year old woman, diagnosed with KFS (a triad of short neck, low posterior hairline and restricted neck movements) at the age of 20 days. The manifestations of the WS in this patient are severe: she has torticollis, and an extremely severe scoliosis. In addition, she is short (-3 SD; parental target height + 0.8SD) and has mixed sensorineural and conductive deafness. She also has ptosis, strabismus and a high myopia. Radiologically, there are multiple coalitions of cervical vertebrae. Intelligence is unaffected (IQ 95), but deafness, strabismus and high myopia forced her early out of school. Karyotype is 46, XX. In brief, this is a patient with severe WS and additional anomalies. Short and/or reduced parental target height is a part of WS.

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“…WS is rarely associated with short stature [5][6][7]. We would further support this observation by another patient with WS and short stature.…”

Section: Discussionsupporting

confidence: 75%

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)

Laban

Tasić

Danilovski

et al. 2015

Prilozi

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“…[1] The cause is unknown, but Wildervanck suggests that it is due to polygenic heredity with sex limitation to the female, though McKusick raises the possibility of sex-linked dominance with fatal effect in the male. [568] Thus the anomalies described in our patient may be considered to be just coincidental or an extended part of the genetic disorder. It is important to note that the patient's family had no history of congenital anomalies.…”

Section: Discussionmentioning

confidence: 76%

“…These were the presence of cleft palate, short stature and delayed milestones in addition to the complete triad of the syndrome. There have been two reports each of Wildervanck syndrome being associated with cleft palate[56] or short stature[67] in isolation but till date only one case report mentions both cleft palate and short stature seen together in association with Wildervanck syndrome. [7] Our report is only the second such report with developmental delay being an additional sign found in our case.…”

Section: Discussionmentioning

confidence: 99%

Wildervanck syndrome associated with cleft palate and short stature

Kumar

Sahu

Shetty

et al. 2010

Indian J Ophthalmol

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We report a case of Wildervanck syndrome exhibiting Klippel-Feil anomaly, Duane retraction syndrome and deafness. Since the first case was reported in 1952, there have been more reports describing this triad, either complete or incomplete. Our patient had the complete triad of the syndrome along with cleft palate and short stature. Also, a review of the literature regarding this syndrome is presented here.

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“…[89] Only one-third of the patients with Wildervanck have been described as having hearing loss; although, audiometry in our patient revealed a moderate degree of sensorineural deafness.…”

Section: Discussionmentioning

confidence: 89%

Wildervanck syndrome with hypoplastic frontal sinus: A rare case presentation

Meshram¹,

Nikose²,

Jain³

et al. 2014

Indian J Hum Genet

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We report a case of Wildervanck syndrome exhibiting Klippel–Feil anomaly, Duane's retraction syndrome and congenital deafness. Since the first case was reported in 1952, there have been more reports describing this triad either complete or incomplete. Our case has a complete triad of the syndrome along with frontal sinus hypoplasia. Our case is unique as the triad was associated with frontal sinus hypoplasia, which is very rare association.

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Ruptured Aneurysm of the Sinus of Valsalva With Wildervanck Syndrome (Cervico-Oculo-Acoustic Syndrome), Blepharoptosis and Short Stature Case Report

Cited by 9 publications

References 11 publications

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)

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)

Wildervanck syndrome associated with cleft palate and short stature

Wildervanck syndrome with hypoplastic frontal sinus: A rare case presentation

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