CHARGE syndrome: Report of 47 cases and review

A. L. Tellier, V. Cormier-Daire, V. Abadie, J. Amiel, S. Sigaudy, D. Bonnet, P. De Lonlay-Debeney, M. P. Morrisseau-Durand, P. Hubert, J. L. Michel, D. Jan, H. Dollfus, C. Baumann, P. Labrune, D. Lacombe, N. Philip, M. LeMerrer, M. L. Briard, A. Munnich, S. Lyonnet

Research output: Contribution to journalArticle

191 Scopus citations

Abstract

The acronym CHARGE refers to a syndrome of unknown cause. Here we report on 47 CHARGE patients evaluated for the frequency of major anomalies, namely coloboma (79%), heart malformation (85%), choanal atresia (57%), growth and/or mental retardation (100%), genital anomalies (34%), ear anomalies (91%), and/or deafness (62%). In addition, we comment on anomalies observed very frequently in neonates and infants with the CHARGE syndrome, including, minor facial anomalies, neonatal brain stem dysfunction with cranial nerve palsy, and, mostly, internal ear anomalies such as semicircular canal hypoplasia that were found in each patient that could be tested. We propose several criteria for poor survival including male gender, central nervous system and/or oesophageal malformations, and bilateral choanal atresia. No predictive factor regarding developmental prognosis could be identified in our series. A significantly higher mean paternal age at conception together with concordance in monozygotic twins and the existence of rare familial cases support the role of genetic factors such as de novo mutation of a dominant gene or subtle sub-microscopic chromosome rearrangement. Finally, the combination of malformations in CHARGE syndrome strongly supports the view that this multiple congenital anomalies/mental retardation syndrome is a polytopic developmental field defect involving the neural tube and the neural crests cells.

Original languageEnglish (US)
Pages (from-to)402-409
Number of pages8
JournalAmerican journal of medical genetics
Volume76
Issue number5
DOIs
StatePublished - Apr 13 1998
Externally publishedYes

Keywords

  • CHARGE syndrome
  • Congenital malformation
  • Vestibulocochlear anomalies

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Tellier, A. L., Cormier-Daire, V., Abadie, V., Amiel, J., Sigaudy, S., Bonnet, D., De Lonlay-Debeney, P., Morrisseau-Durand, M. P., Hubert, P., Michel, J. L., Jan, D., Dollfus, H., Baumann, C., Labrune, P., Lacombe, D., Philip, N., LeMerrer, M., Briard, M. L., Munnich, A., & Lyonnet, S. (1998). CHARGE syndrome: Report of 47 cases and review. American journal of medical genetics, 76(5), 402-409. https://doi.org/10.1002/(SICI)1096-8628(19980413)76:5<402::AID-AJMG7>3.0.CO;2-O