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Atypical aplasia cutis in association with Xia Gibbs syndrome.

Carter EllisGurpur Shashidhar PaiLara Wine Lee
Published in: Pediatric dermatology (2021)
Xia Gibbs syndrome is a genetic disorder first defined in 2014 characterized by hypotonia, intellectual disability, global developmental delay, and dysmorphic facial features. While many additional features may be present, there are few reports of dermatologic findings. We report a case of atypical aplasia cutis in a female infant who was found to have Xia Gibbs syndrome. This case highlights consideration of cutaneous manifestations of Xia Gibbs syndrome which may aid in diagnosis.
Keyphrases
  • intellectual disability
  • case report
  • autism spectrum disorder
  • emergency department
  • dna methylation
  • copy number
  • genome wide
  • electronic health record