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Russell-Silver syndrome associated with low conus medullaris. | LitMetric

Russell-Silver syndrome associated with low conus medullaris.

J Pediatr Neurosci

Department of Neurosurgery, Sisli Florence Nightingale Hospital, Istanbul Bilim University, Istanbul, Turkey.

Published: January 2016

Russell-Silver syndrome is a rare heterogeneous disorder mainly characterized by intrauterine and postnatal growth retardation, craniofacial disproportion, clinodactyly, variation in urogenital development, and skeletal asymmetry. It is rare to come across tethered cord-associated Russell-Silver syndrome. We report a rare case of Russell-Silver syndrome associated with low conus medullaris in a 2-year-old patient with demonstrative phenotype. Magnetic resonance imaging indicated a low conus medullaris at the inferior border of the L3 vertebral body. Urodynamic study revealed detrusor-sphincter dyssynergia and detrusor overactivity. A decision to follow-up the patient was made because of the suspicion of tethered cord syndrome. Even though tethered cord syndrome is not a common finding in Russell-Silver syndrome, it is important to consider tethered cord syndrome to avoid scoliosis and other long-term complications.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5314858PMC
http://dx.doi.org/10.4103/1817-1745.199482DOI Listing

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