Wildervanck syndrome: case report from a tertiary care centre
DOI:
https://doi.org/10.18203/2349-3291.ijcp20232597Keywords:
Wildervanck syndrome, Klippel Feil anomaly, Cervical spine fusion, Duane eye movement, HydrocephalusAbstract
One suspected case of Wildervanck syndrome (OMIM 314600) reported from our tertiary care centre. Wildervanck syndrome is distinct from other similar conditions due to its opthal and hearing associations-forming a clinical triad. Candidate gene identification in Wildervanck syndrome is still pending whereas most other similar genetic conditions has got a specific gene mutation. Klippel Feil anomaly suspected one girl admitted in our centre with severe pneumonia showed features of short neck, fusion of cervical spines and Sprengel deformity. Detailed examination showed bilateral severe sensorineural hearing loss, Duane eye movement with other novel associations not described in literature. We clinically suspected Wildervanck syndrome and did molecular testing. Being clinicians, it is our responsibility to report new associations and clinical findings and thus broaden the phenotype. Since it is a highly infrequent disorder, discussed in detail here.
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