Saturday, May 05, 2007


American Journal of Medical Genetics
Volume 76, Issue 5, 13 April 1998, Pages 402-409

This article has been cited 87 times in Scopus:
(Showing the 2 most recent)
Forward, K.E. , Cummings, E.A. , Blake, K.D.
Risk factors for poor bone health in adolescents and adults with CHARGE syndrome
(2007) American Journal of Medical Genetics, Part A

Sanlaville, D. , Verloes, A.
CHARGE syndrome: An update
(2007) European Journal of Human Genetics

CHARGE syndrome: Report of 47 cases and review

Tellier, A.L.a , Cormier-Daire, V.a , Abadie, V.b , Amiel, J.a , Sigaudy, S.c , Bonnet, D.b , De Lonlay-Debeney, P.a , Morrisseau-Durand, M.P.d , Hubert, P.b , Michel, J.L.e , Jan, D.e , Dollfus, H.f , Baumann, C.g , Labrune, P.h , Lacombe, D.i , Philip, N.c , LeMerrer, M.a , Briard, M.L.a , Munnich, A.a , Lyonnet, S.a j

a Departement de Genetique, INSERM U-393, Hôpital Necker-Enfants-Malades, Paris, France
b Fédération de Pédiatrie Médicale, Hôpital Necker-Enfants-Malades, Paris, France
c Centre de Génétique Médicale, Hôpital d'Enfants de la Timone, Marseille, France
d Service d'Ophtalmologie, Hôpital Necker-Enfants-Malades, Paris, France
e Service d'ORL, Hôpital Necker-Enfants-Malades, Paris, France
f Clinique Chirurgicale Infantile, Hôpital Necker-Enfants-Malades, Paris, France
g Unité de Génétique, Hôpital Robert Debré, Paris, France
h Service de Pédiatrie, Hôpital Antoine Béclère, Clamart, France
i Service de Pédiatrie et de Génétique, Hôpital d'Enfants Pellegrin, Bordeaux, France
j Hôpital Necker-Enfants-Malades, Service de Génétique Médicale, 149, rue de Sèvres, 75743 Paris Cedex 15, France


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.

Author Keywords

CHARGE syndrome; Congenital malformation; Vestibulocochlear anomalies

Lyonnet, S.; Hopital Necker-Enfants-Malades, Service de Genetique Medicale, 149, rue de Sevres, 75743 Paris, Cedex 15, France;
© Copyright 2006 Elsevier B.V., All rights reserved.


American Journal of Medical Genetics
Volume 76, Issue 5, 13 April 1998, Pages 402-409



Post a Comment

Subscribe to Post Comments [Atom]

<< Home