A CASE OF STAR SYNDROME PRESENTING WITH RENAL FAILURE
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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Unger, S., Bohm, D., Kaiser, F. J., Kaulfuss, S., Borozdin, W., Buiting, K., Burfeind, P., Bohm, J., Barrionuevo, F., Craig, A., Borowski, K., Keppler-Noreuil, K., and 9 others. Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. Nature Genet. 40: 287-289, 2008. [PubMed: 18297069, related citations] [Full Text: Nature Publishing Group]
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