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E2011. Radiologic Manifestations of De Barsey Syndrome: A Pictorial Review of Rare Congenital Abnormalities
Authors
  1. Bill Zhou; University of California - Los Angeles
  2. Ruby George; Olive View/University of California - Los Angeles Medical Center
  3. Omid Jafari; Olive View/University of California - Los Angeles Medical Center
  4. Soni Chawla ; Olive View/University of California - Los Angeles Medical Center
Background
De Barsy syndrome is an exceedingly rare autosomal recessive disorder first described in 1968 by de Barsy of a girl with “dwarfisms, oligophrenia and degeneration of the elastic tissue in skin and cornea.” Since then, only approximately 100 cases of De Barsy syndrome have been reported in medical literature. De Barsy syndrome is part of the cutix laxa family of disorders with characteristic ocular, facial, skeletal, dermatologic, and neurologic abnormalities. Because of its rarity, there is a paucity of medical literature describing the disease and even less so illustrating its radiologic manifestations.

Educational Goals / Teaching Points
The objectives of this exhibit are: understand the clinical presentation and genetics of De Barsy syndrome; highlight the radiologic manifestations of congenital abnormalities associated with De Barsy syndrome and the other cutis laxa disorders; and appreciate some of the non-radiologic manifestations of De Barsy syndrome.

Key Anatomic/Physiologic Issues and Imaging Findings/Techniques
Examples of radiologic manifestations include agenesis of the corpus callosum, pontocerebellar and vermian hypoplasia, cervical medullary stenosis, frontal bossing, optic nerve hypoplasia, inguinal hernia, hip dysplasia, pectus excavatum, club foot, vertical talus, and adducted thumb.

Conclusion
De Barsy syndrome is an extremely rare congenital disease that most practicing radiologists will not encounter in their career. However, its multisystem involvement is an excellent opportunity to review radiologic manifestations of both common and uncommon pediatric congenital abnormalities.