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A CASE OF STAR SYNDROME PRESENTING WITH RENAL FAILURE

SAJU .

Abstract


Abstract :

         We report a rare case of STAR Syndrome which is    characterized by Syndactyly, telecanthus, anogenital and renal malformations. Patient presented with features of renal failure with involvement of the single kidney. She had        undergone corrective surgeries for anogenital malformation and atrial septal defect during early childhood. All her fingers and toes showed evidence of syndactyly. Facial dysmorphism was present with evidence of telecanthus, broad nasal tip and low set ears. Not associated with mental retardation. STAR      syndrome is an X-linked dominant disease due to the        involvement of the FAM58A gene. Life expectancy depends on the extent of renal and cardiac involvement.

 

Keyword :STAR Syndrome, Syndactyly, telecanthus,       anogenital malformation, renal malformation, Atrial Septal Defect, facial dysmorphism

 


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References


Green, A. J., Sandford, R. N., Davison, B. C. C. An autosomal dominant syndrome of renal and anogenital malformations with syndactyly. J. Med. Genet. 33: 594-596, 1996. [PubMed: 8818947,

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http://www.ncbi.nlm.nih.gov/sites/ga?disorder=STAR%20syndrome

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