Child's Nervous System

, Volume 35, Issue 1, pp 11–13 | Cite as

A unique case of CHARGE syndrome with craniosynostosis

  • Loizos SiakallisEmail author
  • Ai Peng Tan
  • Raouf Chorbachi
  • Kshitij Mankad
Letter to the Editor

Dear Editor:

In this article, we would like to report a unique case of CHARGE syndrome and craniosynostosis in a child heterozygous for CHD7 mutation. CHARGE syndrome has been associated with multiple congenital abnormalities; however, to the best of our knowledge, an association between genetically confirmed CHARGE and craniosynostosis has not been previously reported. We believe that this unique phenotype serves as an exciting illustration of the interrelation of CHARGE syndrome with other syndromes exhibiting overlapping phenotypes, occasionally including craniosynostosis.

This baby boy was born by spontaneous vaginal delivery at 34 weeks of gestation and was clinically diagnosed with CHARGE syndrome shortly after birth. Following transfer to our hospital, he underwent successful surgical repair of esophageal atresia. Postnatal examination also revealed evidence of delayed visual maturation, severe left hearing loss, global developmental delay, hypotonia, micropenis, and athymic...


Compliance with ethical standards

Conflict of interest

The authors have no conflicts of interest to disclose.


  1. 1.
    Sanlaville D, Verloes A (2007) CHARGE syndrome: an update. Eur J Hum Genet 15:389CrossRefGoogle Scholar
  2. 2.
    Pauli S, Bajpai R, Borchers A (2017) CHARGEd with neural crest defects. Am J Med Genet C Semin Med Genet 175:478–486. CrossRefGoogle Scholar
  3. 3.
    Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G et al (2005) Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet A 132:265–272CrossRefGoogle Scholar
  4. 4.
    Wenger TL, Harr M, Ricciardi S, Bhoj E, Santani A, Adam MP, Barnett SS, Ganetzky R et al (2014) CHARGE-like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases. Am J Med Genet A 164:2557–2566CrossRefGoogle Scholar
  5. 5.
    Wilkie AO, Morriss-Kay GM (2001) Genetics of craniofacial development and malformation. Nat Rev Genet 2:458–468CrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Neuroradiology Department, Great Ormond Street Hospital for Children NHS Foundation TrustLondonUnited Kingdom
  2. 2.Department of Diagnostic RadiologyNational University Health SystemSingaporeSingapore
  3. 3.North Thames Cleft Service, Department of Audiological Medicine/ Audiology/Cochlear implants, Great Ormond Street Hospital for ChildrenLondonUnited Kingdom

Personalised recommendations