Research ArticlePEDIATRICS
Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome and SOX10 Mutations
M. Elmaleh-Bergès, C. Baumann, N. Noël-Pétroff, A. Sekkal, V. Couloigner, K. Devriendt, M. Wilson, S. Marlin, G. Sebag and V. Pingault
American Journal of Neuroradiology December 2012, DOI: https://doi.org/10.3174/ajnr.A3367
M. Elmaleh-Bergès
From the Departments of Pediatric Imaging (M.E.-B., A.S., G.S.), Clinical Genetics (C.B.), and Otorhinolaryngology (N.N.-P.), Hôpital Robert Debré, Paris, France; Center for Human Genetics (K.D.), University Hospitals Leuven, Leuven, Belgium; Department of Otorhinolaryngology (V.C.), Hôpital Necker-Enfants Malades, Paris, France; Department of Clinical Genetics (M.W.), The Children's Hospital at Westmead, Sydney, Australia; Centre de Référence des Surdités Génétiques (S.M.), Hôpital Armand-Trousseau, Paris, France; and Laboratoire de Biochimie et Génétique (V.P.), AP-HP, Hôpital Henri Mondor–Albert Chenevier, Créteil, France.
C. Baumann
From the Departments of Pediatric Imaging (M.E.-B., A.S., G.S.), Clinical Genetics (C.B.), and Otorhinolaryngology (N.N.-P.), Hôpital Robert Debré, Paris, France; Center for Human Genetics (K.D.), University Hospitals Leuven, Leuven, Belgium; Department of Otorhinolaryngology (V.C.), Hôpital Necker-Enfants Malades, Paris, France; Department of Clinical Genetics (M.W.), The Children's Hospital at Westmead, Sydney, Australia; Centre de Référence des Surdités Génétiques (S.M.), Hôpital Armand-Trousseau, Paris, France; and Laboratoire de Biochimie et Génétique (V.P.), AP-HP, Hôpital Henri Mondor–Albert Chenevier, Créteil, France.
N. Noël-Pétroff
From the Departments of Pediatric Imaging (M.E.-B., A.S., G.S.), Clinical Genetics (C.B.), and Otorhinolaryngology (N.N.-P.), Hôpital Robert Debré, Paris, France; Center for Human Genetics (K.D.), University Hospitals Leuven, Leuven, Belgium; Department of Otorhinolaryngology (V.C.), Hôpital Necker-Enfants Malades, Paris, France; Department of Clinical Genetics (M.W.), The Children's Hospital at Westmead, Sydney, Australia; Centre de Référence des Surdités Génétiques (S.M.), Hôpital Armand-Trousseau, Paris, France; and Laboratoire de Biochimie et Génétique (V.P.), AP-HP, Hôpital Henri Mondor–Albert Chenevier, Créteil, France.
A. Sekkal
From the Departments of Pediatric Imaging (M.E.-B., A.S., G.S.), Clinical Genetics (C.B.), and Otorhinolaryngology (N.N.-P.), Hôpital Robert Debré, Paris, France; Center for Human Genetics (K.D.), University Hospitals Leuven, Leuven, Belgium; Department of Otorhinolaryngology (V.C.), Hôpital Necker-Enfants Malades, Paris, France; Department of Clinical Genetics (M.W.), The Children's Hospital at Westmead, Sydney, Australia; Centre de Référence des Surdités Génétiques (S.M.), Hôpital Armand-Trousseau, Paris, France; and Laboratoire de Biochimie et Génétique (V.P.), AP-HP, Hôpital Henri Mondor–Albert Chenevier, Créteil, France.
V. Couloigner
From the Departments of Pediatric Imaging (M.E.-B., A.S., G.S.), Clinical Genetics (C.B.), and Otorhinolaryngology (N.N.-P.), Hôpital Robert Debré, Paris, France; Center for Human Genetics (K.D.), University Hospitals Leuven, Leuven, Belgium; Department of Otorhinolaryngology (V.C.), Hôpital Necker-Enfants Malades, Paris, France; Department of Clinical Genetics (M.W.), The Children's Hospital at Westmead, Sydney, Australia; Centre de Référence des Surdités Génétiques (S.M.), Hôpital Armand-Trousseau, Paris, France; and Laboratoire de Biochimie et Génétique (V.P.), AP-HP, Hôpital Henri Mondor–Albert Chenevier, Créteil, France.
K. Devriendt
From the Departments of Pediatric Imaging (M.E.-B., A.S., G.S.), Clinical Genetics (C.B.), and Otorhinolaryngology (N.N.-P.), Hôpital Robert Debré, Paris, France; Center for Human Genetics (K.D.), University Hospitals Leuven, Leuven, Belgium; Department of Otorhinolaryngology (V.C.), Hôpital Necker-Enfants Malades, Paris, France; Department of Clinical Genetics (M.W.), The Children's Hospital at Westmead, Sydney, Australia; Centre de Référence des Surdités Génétiques (S.M.), Hôpital Armand-Trousseau, Paris, France; and Laboratoire de Biochimie et Génétique (V.P.), AP-HP, Hôpital Henri Mondor–Albert Chenevier, Créteil, France.
M. Wilson
From the Departments of Pediatric Imaging (M.E.-B., A.S., G.S.), Clinical Genetics (C.B.), and Otorhinolaryngology (N.N.-P.), Hôpital Robert Debré, Paris, France; Center for Human Genetics (K.D.), University Hospitals Leuven, Leuven, Belgium; Department of Otorhinolaryngology (V.C.), Hôpital Necker-Enfants Malades, Paris, France; Department of Clinical Genetics (M.W.), The Children's Hospital at Westmead, Sydney, Australia; Centre de Référence des Surdités Génétiques (S.M.), Hôpital Armand-Trousseau, Paris, France; and Laboratoire de Biochimie et Génétique (V.P.), AP-HP, Hôpital Henri Mondor–Albert Chenevier, Créteil, France.
S. Marlin
From the Departments of Pediatric Imaging (M.E.-B., A.S., G.S.), Clinical Genetics (C.B.), and Otorhinolaryngology (N.N.-P.), Hôpital Robert Debré, Paris, France; Center for Human Genetics (K.D.), University Hospitals Leuven, Leuven, Belgium; Department of Otorhinolaryngology (V.C.), Hôpital Necker-Enfants Malades, Paris, France; Department of Clinical Genetics (M.W.), The Children's Hospital at Westmead, Sydney, Australia; Centre de Référence des Surdités Génétiques (S.M.), Hôpital Armand-Trousseau, Paris, France; and Laboratoire de Biochimie et Génétique (V.P.), AP-HP, Hôpital Henri Mondor–Albert Chenevier, Créteil, France.
G. Sebag
From the Departments of Pediatric Imaging (M.E.-B., A.S., G.S.), Clinical Genetics (C.B.), and Otorhinolaryngology (N.N.-P.), Hôpital Robert Debré, Paris, France; Center for Human Genetics (K.D.), University Hospitals Leuven, Leuven, Belgium; Department of Otorhinolaryngology (V.C.), Hôpital Necker-Enfants Malades, Paris, France; Department of Clinical Genetics (M.W.), The Children's Hospital at Westmead, Sydney, Australia; Centre de Référence des Surdités Génétiques (S.M.), Hôpital Armand-Trousseau, Paris, France; and Laboratoire de Biochimie et Génétique (V.P.), AP-HP, Hôpital Henri Mondor–Albert Chenevier, Créteil, France.
V. Pingault
From the Departments of Pediatric Imaging (M.E.-B., A.S., G.S.), Clinical Genetics (C.B.), and Otorhinolaryngology (N.N.-P.), Hôpital Robert Debré, Paris, France; Center for Human Genetics (K.D.), University Hospitals Leuven, Leuven, Belgium; Department of Otorhinolaryngology (V.C.), Hôpital Necker-Enfants Malades, Paris, France; Department of Clinical Genetics (M.W.), The Children's Hospital at Westmead, Sydney, Australia; Centre de Référence des Surdités Génétiques (S.M.), Hôpital Armand-Trousseau, Paris, France; and Laboratoire de Biochimie et Génétique (V.P.), AP-HP, Hôpital Henri Mondor–Albert Chenevier, Créteil, France.
Data supplements
Supplemental Online Materials
Files in this Data Supplement:
- Online Appendix and Table (PDF) -
Online Appendix: see file
Online Table: SOX10 mutations and clinical findings in patients included in the study
- Online Appendix and Table (PDF) -
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Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome and SOX10 Mutations
M. Elmaleh-Bergès, C. Baumann, N. Noël-Pétroff, A. Sekkal, V. Couloigner, K. Devriendt, M. Wilson, S. Marlin, G. Sebag, V. Pingault
American Journal of Neuroradiology Dec 2012, DOI: 10.3174/ajnr.A3367
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