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Radiographic examination showed enamel and dentin defects, giving a ghost-like tooth appearance. She also presented with obstructive sleep apnea syndrome and specific craniofacial features pathognomonic of HSS. She had no learning deficit nor psychomotor regression however, a language delay was noted. The patient presented with repeated dental abscesses and severe early childhood caries. This paper reports the case of a Moroccan girl with a phenotype within the clinical spectrum of both Hallermann-Streiff (HSS, OMIM 234100) and Oculodentodigital Dysplasia (ODDD, OMIM 164200) syndromes.

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  • 5Hôpitaux Universitaires de Strasbourg, Pôle de Médecine et Chirurgie Bucco-Dentaires, Centre de référence des maladies rares orales et dentaires, CRMR O-Rares, Filière Santé Maladies rares TETE COU, European Reference Network ERN CRANIO, Strasbourg, France.
  • 4Université de Strasbourg, Faculté de Chirurgie Dentaire, Strasbourg, France.
  • 3Hôpitaux Universitaires de Strasbourg, Laboratoires de diagnostic génétique, Institut de Génétique Médicale d'Alsace, Strasbourg, France.
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    2Faculté de médecine dentaire de l'Université Hassan II, Service de Pédodontie - Centre de Consultations et Traitements Dentaires, Casablanca, Morocco.1Université de Strasbourg, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS-UMR7104, Illkirch-Graffenstaden, France.Alexandra Jimenez-Armijo 1 †, Khadja Oumensour 2 †, Bouchra Bousfiha 2, Tristan Rey 1,3, Virginie Laugel-Haushalter 1,4, Agnès Bloch-Zupan 1,4,5 * ‡ and Samira El Arabi 2 ‡












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