Craniosynostosis and radial ray defect: A rare presentation of 22q11.2 deletion syndrome

Academic Article

Abstract

  • A newborn with bilateral coronal craniosynostosis, hypoplastic thumbs, imperforate anus, and prenatal growth restriction was evaluated and given the clinical diagnosis of Baller-Gerold syndrome (BGS). While confirmatory testing of RECQL4 was pending, the infant developed unexplained hypocalcemia, prompting testing for a 22q11.2 deletion. Subsequently, the infant was found to have a 22q11.2 deletion, and was negative for an RECQL4 mutation. We therefore conclude that 22q11.2 deletion syndrome can present with findings resembling the BGS phenotype. © 2013 Wiley Periodicals, Inc.
  • Published In

    Digital Object Identifier (doi)

    Author List

  • Rojnueangnit K; Robin NH
  • Start Page

  • 2024
  • End Page

  • 2026
  • Volume

  • 161
  • Issue

  • 8