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CASE REPORT
Year : 2014  |  Volume : 20  |  Issue : 2  |  Page : 189-191
 

Wildervanck syndrome with hypoplastic frontal sinus: A rare case presentation


Department of Pediatrics, AVBRH, Sawangi, Wardha, Maharashtra, India

Date of Web Publication14-Oct-2014

Correspondence Address:
Suwansh Sukhadeorao Meshram
101, Swapna Vishwa Appartment, Vishwakarma Nagar, Street No. 5, Nagpur - 440 027, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-6866.142899

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   Abstract 

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.


Keywords: Duane′s syndrome, frontal sinus hypoplasia, Klippel Klippel-Feil deformity, Wildervanck syndrome


How to cite this article:
Meshram SS, Nikose S, Jain S, Taksande A. Wildervanck syndrome with hypoplastic frontal sinus: A rare case presentation. Indian J Hum Genet 2014;20:189-91

How to cite this URL:
Meshram SS, Nikose S, Jain S, Taksande A. Wildervanck syndrome with hypoplastic frontal sinus: A rare case presentation. Indian J Hum Genet [serial online] 2014 [cited 2017 Mar 28];20:189-91. Available from: http://www.ijhg.com/text.asp?2014/20/2/189/142899



   Introduction Top


In 1952, Wildervanck, described a cervico-oculo-acoustic syndrome consisting of Klippel-Feil deformity, abducens palsy with globe retraction (Duane's retraction), and congenital hearing loss. [1] Etiology is unknown. Majority of individuals have been females. Cases with complete as well incomplete triad have been described in literature. This report describes a case with hypoplastic frontal sinus along with triad of Wildervanck syndrome. This presentation has been rarely described in literature.


   Case Report Top


The patient is a 9-year-old female child admitted to AVBR Hospital for deformity of an ear, short and deviated neck since birth. She was born of nonconsanguineous marriage. Antenatal history was uneventful. There was no history of any drugs or radiological exposure. Birth history was also uneventful without any complications during intrapartum as well postpartum period. Developmentally, she was normal. Anthropometric parameters were suggestive of short stature (height - 119 cm; <3 rd percentile). On examination, her vitals were stable. Right ear was malformed without visible vestibular canal. Left ear was having discharge. The neck was short with deviation to right side [Figure 1]. Furthermore, there was kyphoscoliosis of the thoracic vertebrae [Figure 2]. Her right eye was smaller than the left eye with an intermittent involuntary decrease in size. The systemic examinations showed abducens and right facial nerve palsy. Ophthalmic evaluation was done for small size of the right eye. It was suggestive of right eyeball retraction.
Figure 1: Left abducens nerve palsy with short neck and malformed right ear

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Figure 2: Klippel-Feil deformity

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All above findings were suggestive of Wildervanck syndrome. Child was investigated for various deformities. Her blood reports were normal. Audiometry revealed profound hearing loss on right side and moderate sensorineural hearing loss on the left side. Brainstem evoked response audiometry was also suggestive of sensorineural hearing loss on the left side. Computed tomography (CT) spine was showing of fusion of the thoracic vertebrae, suggestive of Klippel-Feil deformity. CT paranasal sinuses were suggestive of the hypoplastic frontal sinus [Figure 3]. CT brain was suggestive of right holesteatoma [Figure 4].This was rare association with Wildervanck syndrome. The patient was planned for surgery for cholesteatoma. As she was also having short neck, anesthetist gave high-risk fitness. Hence, patient's relatives refused to opt for surgery; hence, child was referred to higher center with better expertise management for surgery.
Figure 3: Right frontal sinus hypoplasia

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Figure 4: Cholesteatoma

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   Discussion Top


Wildervanck syndrome comprises of the triad of Klippel-Feil deformity (fusion of ≥ 1 cervical vertebra), Duane retraction syndrome, and hearing loss. [2] The neck is short, thick, webbed, and immobile. [2] The head seems to sit directly on the trunk. Other spinal deformities (spina bifida occulta, sprengel deformity, and hemivertebrae, fusion of the ribs, absent ribs, kyphosis, scoliosis, and basilar impression) may coexist. Hearing loss in patients with the Wildervanck syndrome may be sensorineural, conductive, or mixed and may be accompanied by malformations of the external ear, external acoustic meatus, ossicles, and bony labyrinth. [2] Our case also had a malformed right ear. Intelligence may be mildly to severely reduced. [3]

There is a consensus about the mode of inheritance of Wildervanck syndrome, but all agree that genetic factors are involved. Autosomal dominant inheritance with incomplete penetrance and variable expressivity has been suggested. [4],[5] Further, the gene would be partly sex limited acting on a polygenic background, which is modified by sex, rendering females more susceptible than males to action of the gene. [6] An environmental etiology, due to a vascular disruption sequence during embryonic development has been noted in Klippel-Feil anomalies as in Moebius and Poland sequences. A combination of defects (Kiippel-Feil and Moebius) could induce the more complex phenotype observed in Wildervanck syndrome. [7]

Wildervanck stated that deafness should be sensorineural in type; cases with conductive or mixed losses have also been reported. [8],[9] 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.


   Conclusion Top


Wildervanck syndrome with frontal sinus hypoplasia and cholesteatoma is very rare association, which has not yet been described in literature. Furthermore, surgical intervention is necessary for the drainage of cholesteatoma. An expert team work is required for the surgery as intubation may be difficult because of Klippel-Feil deformity. The possibility of Wildervanck should be kept in mind, while evaluating a case of Klippel-Feil deformity.

 
   References Top

1.
Wildervanck LS. A case of Klippel-Feil's syndrome with abducens paralysis; retraction of the eyeball and deaf-mutism. Ned Tijdschr Geneeskd 1952;96:2752-6.  Back to cited text no. 1
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2.
Cohen MM, Gorlin RJ. Genetic hearing loss associated with musculoskeletal disorders. In: Gorlin RJ, Toriello JV, Cohen MM, editors. Hereditary Hearing Loss and Its Syndromes. New York, NY: Oxford University Press Inc.; 1995. p. 204-7.  Back to cited text no. 2
    
3.
Fraser WI, MacGillivray RC. Cervico-oculo-acoustic dysplasia. ("The syndrome of Wildervanck"). J Ment Defic Res 1968;12:322-9.  Back to cited text no. 3
[PUBMED]    
4.
Kirkham TH. Inheritance of Duane's syndrome. Br J Ophthalmol 1970;54:323-9.  Back to cited text no. 4
[PUBMED]    
5.
Konigsmark BW, Gorlin RJ. Genetic hearing loss associated with museuioskeletal abnormalities. In: Genetic and Metabolic Deafness. 1 st ed. Philadelphia: WB Saunders; 1976. p. 188-92.  Back to cited text no. 5
    
6.
Goodman RM, Gorlin RJ. Atlas of the Face in Genetic Disorders. 2 nd ed. St. Louis: CV Mosby Co.; 1977. p. 534-5.  Back to cited text no. 6
    
7.
Corsello G, Carcione A, Castro L, Giuffrè L. Cervico-oculo-acusticus (Wildervanck's) syndrome: A clinical variant of Klippel-Feil sequence? Klin Padiatr 1990;202:176-9.  Back to cited text no. 7
    
8.
Wildervanck LS. The cervco-oculo-acoustic syndrome. Handbook of Clinical Neurology. Vol. 32. New York: North Holland Publishing Co.; 1978. p. 123-30.  Back to cited text no. 8
    
9.
Oe K, Mori K, Konno T, Yoneda T, Ueyama K, Yamagishi M. Ruptured aneurysm of the sinus of Valsalva with Wildervanck syndrome (cervico-oculo-acoustic syndrome), blepharoptosis and short stature: Case report. Circ J 2007;71:1485-7.  Back to cited text no. 9
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

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    Abstract
   Introduction
   Case Report
   Discussion
   Conclusion
    References
    Article Figures

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