| |||||||||||||||||||||
| | |||||||||||||||||||||
|
Wildervanck syndrome (cervico-oculo-acoustic syndrome). G Gupte, P Mahajan, VK Shreenivas, A Kher, BA BharuchaDept of Paediatrics, Seth GS Medical College, Parel, Bombay, Maharashtra., Correspondence Address: PMID: 0001307589
Wildervanck syndrome i.e. cervico (Klippel-Feil anomalad) -oculo (Duane-Stilling-Turk phenomenon with bilateral abducens palsy)-acoustic (deafness) is a rare syndrome. We report here 4 cases diagnosed as Wildervanck syndrome and analyse their findings. One patient had an an atrial septal defect. Such association of congenital heart disease with Wildervanck syndrome has not been reported previously. Keywords: Abnormalities, Multiple, diagnosis,genetics,pathology,Case Report, Child, Deafness, congenital,diagnosis,genetics,Eye Abnormalities, diagnosis,genetics,pathology,physiopathology,Eye Movements, Female, Human, Infant, Infant, Newborn, Klippel-Feil Syndrome, complications,diagnosis,genetics,pathology,Male, Syndrome,
Wildervanck syndrome (cervico-oculo-acoustic syndrome) comprises: (1) Klippel-Feil anomalad More Details (fused neck vertebrae with limitation of head movement often associated with spina bifida cervicalis), (2) retractio bulbi (Duane-Stilling-Turk-syndrome) and (3) congenital sensorineural, conductive or mixed deafness. Although cases have been previously reported in the literature without considering this constellation of signs to be a syndrome, it was first described as a nosologic and genetic entity by Wildervanck in 1952[1],[2]. As with many syndromes, the triad need not always be complete[1],[2]. Cases have been described in literature. This report describes four cases from our Genetic Clinic, constituting the first series to be reported from this country.
The referred cases of short neck with deafness were approached in the following manner: 1. recording of a detailed history, height and weight percentiles and upper segment to lower segment ratio, 2. clinical examination including eye examination and fundoscopy 3. brain-stem evoked response auditory (BERA), X-rays of the cervical spine and ultrasonography of the abdomen. Karyotype was done in one of the patients to exclude Turner syndrome. 2D ECHO was done on one patient as a murmur was detected on clinical examination. Developmental assessment was done by the clinical psychologist. The major clinical features of the four patients were tabulated and studied.
The results are shown in the [Table - 1]. Of the four patients, two had the complete triad, while two had Klippel-Feil anomala-d with Duane's phenomenon [Figure - 1]. BERA was not done in Case 2, as the child was lost to follow-up. Facial asymmetry was found in two patients, while mental retardation was found in one.
Two unusual findings found in the 4 patients studied above are: (1) presence of bilateral cervical ribs in Case 3, and (2) presence of an associated congenital heart disease i.e. atrial septal defect in Case 4. The association of congenital heart disease with Klippel-Feil syndrome More Details has been described in literature[3]. No previous report about the association of congenital heart disease with Wildervanck Syndrome has been described. Such finding in our case may be coincidental as it has not been described in previous reports or may be an extended part of the syndrome. There is a gradual transition in the clinical features between incomplete and complete forms of Wildervanck syndrome. Only a third of patients with the Klippel-Feil anomalad have hearing impairment and this may be purely conductive, sensorineural or both[4],[5]. Radiological evaluation by cranial tomography on one or both sides can be done to ascertain the presence of cochlea, vestibulum, semicircular canals and internal auditory meatus[2]. Radiological examination of the petrous bones will not help in diagnosis, but will assist considerably in defining the nature of the defect[2]. Tomography done in two of the four patients in this series did not reveal major defects except for constriction of the internal auditory meatus in Case 3. MRI done in one case described in the literature revealed marked cerebellar and brain stem atrophy with basilar invagination[6]. Pseudopapilledema was an unusual feature in the two cases of Wildervanck syndrome, reviewed by Kirkham[7], leading to the conclusion that routine examination of the fundus should be done in every case of cervico-oculo-acoustic syndrome. The presence of pseudopapilledema has been thought to be an extension of the genetic defect responsible for the condition[7],[8]. 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 [8],[9]. 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[10]. An environ-mental aetiology, due to a vascular disruption sequence during embryonic development has been noted in Klippel-Feil anomaiad as in Moebius and Poland sequences. A combination of defects (Kiippel-Feil and Moebius) could induce the more complex phenotype observed in Wildervanck syndrome[11]. Wildervanck concluded that polygenic inheritance with limitation to females is most likely[1],[8].[9]. McKusick agrees with this view[12]. Three of the four patients in our series were females. The syndrome is considered to be lethal in males. The lone male patient in this series was seen at 3 days of age and did not follow up subsequently. The Klippel-Feil Syndrome may overlap with many features of Turner and Noonan syndromes, but the Wildervanck syndrome is the most common multiple congenital abnormality found in association with Duane syndrome. Turner syndrome was indirectly excluded in two of the three females patients by demonstrating normal ovaries on ultrasonography; while karyotype done in the third was 46XX Noonan syndrome was excluded in the association of the Duane phenomenon with Klippel-Feil anomalad. The handicaps in the syndrome remain stationary throughout life and apparently do not influence the life span. Patients with deafness may need a hearing aid[1],[1].
We wish to thank Dr PM Pai, Dean, King Edward Memorial Hospital, Mumbai for granting permission to publish this data.
[Figure - 1] [Table - 1]
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||