Craniosynostosis and radial ray defect: A rare presentation of 22q11.2 deletion syndrome. Issue 8 (27th June 2013)

• Record Type: Journal Article
• Authors: Rojnueangnit, Kitiwan; Robin, Nathaniel H.
• Is Part Of: American journal of medical genetics. Volume 161:Issue 8(2013:Aug.)
• Page Start: 2024
• Page End: 2026
• Publication Date: 2013-06-27
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36004
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="ajmga36004-sec-0001" sec-type="section"> <p>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 <italic>RECQL4</italic> 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 <italic>RECQL4</italic> mutation. We therefore conclude that 22q11.2 deletion syndrome can present with findings resembling the BGS phenotype. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>