The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance-Reference-Cited by-同舟云学术

The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance

Published:2018-12-10 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Lehalle Daphné¹²³^ORCID,Altunoglu Umut⁴,Bruel Ange‐Line²,Assoum Mirna²,Duffourd Yannis²,Masurel Alice¹,Baujat Geneviève⁵,Bessieres Bettina⁶,Captier Guillaume⁷,Edery Patrick⁸⁹,Elçioğlu Nursel H.¹⁰¹¹,Geneviève David¹²¹³,Goldenberg Alice¹⁴,Héron Delphine¹⁵¹⁶¹⁷¹⁸¹⁹,Grotto Sarah¹⁴,Marlin Sandrine⁵,Putoux Audrey⁸⁹,Rossi Massimiliano⁸⁹^ORCID,Saugier‐Veber Pascale²⁰,Triau Stéphane²¹,Cabrol Christelle²²,Vézain Myriam²⁰,Vincent‐Delorme Catherine²³,Thauvin‐Robinet Christel¹²,Thevenon Julien¹²,Vabres Pierre²²⁴,Callier Patrick²,Kayserili Hulya⁴²⁵^ORCID,Faivre Laurence¹²^ORCID

Affiliation:

1. Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion EstCentre Hospitalier Universitaire Dijon Dijon France

2. Equipe GAD, INSERM LNC UMR 1231, Faculté de MédecineUniversité de Bourgogne Franche‐Comté Dijon France

3. Unité fonctionnelle de Génétique CliniqueCentre Hospitalier Intercommunal de Créteil Dijon France

4. Medical Genetics Department, Istanbul Medical FacultyIstanbul University Istanbul Turkey

5. Service de Génétique, INSERM U781, Hôpital Necker‐Enfants MaladesInstitut Imagine, University Sorbonne‐Paris‐Cité Paris France

6. Unite d'embryofoetopathologie, Service d'Histologie‐Embryologie‐CytogénétiqueHôpital Necker – Enfants Malades, APHP Paris France

7. Service de chirurgie orthopédique et plastique pédiatrique, Hôpital LapeyronieCHU Montpellier Montpellier France

8. Service de génétique et Centre de Référence des Anomalies du développement de la région Auvergne‐Rhône‐AlpesCHU de Lyon Lyon France

9. Centre de Recherche en Neurosciences de LyonINSERM U1028 CNRS UMR 5292, UCB Lyon 1 Lyon France

10. Department of Pediatric GeneticsMarmara University Medical School Istanbul Turkey

11. Eastern Mediterranean University Medical School Mersin Turkey

12. Genetic Department for Rare Disease and Personalised Medicine, Clinical DivisionMontpellier University, Inserm U1183 Montpellier France

13. Centre de référence des anomalies du développement et syndromes malformatifs Sud‐Ouest Occitanie France

14. Department of GeneticsRouen University Hospital, Normandy Centre for Genomic and Personalized Medicine Rouen France

15. AP‐HP, Hôpital de la Pitié‐Salpêtrière, Département de Génétique Paris France

16. Centre de Référence "déficiences intellectuelles de causes rares" Paris France

17. Groupe de Recherche Clinique (GRC) "déficience intellectuelle et autisme" UPMC Paris France

18. INSERM, U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127 Paris France

19. Institut du Cerveau et de la Moelle épinière, ICM Paris France

20. Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of GeneticsNormandy Centre for Genomic and Personalized Medicine Rouen France

21. Service de FoetopathologieCHU Angers Angers France

22. Centre de Génétique humaineCHU Besançon Besançon France

23. Department of Clinical GeneticsCHU Lille Lille France

24. Service de DermatologieCHU Dijon Dijon France

25. Koç University School of Medicine (KUSoM) Medical Genetics Department İstanbul Turkey

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.40662

Reference49 articles.

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2. The oculo‐auriculo‐fronto‐nasal syndrome (OAFNS)––Description of a rare and complex craniofacial deformity and its interdisciplinary management before school age;Adolphs N.;Journal of Cranio‐Maxillofacial Surgery,2012

3. Intracranial lipomas, hydrocephalus and other CNS anomalies in oculoauriculo‐vertebral dysplasia (Goldenhar‐Gorlin syndrome);Aleksic S.;Child's Brain,1984

4. Severe facial clefting, limbic dermoid, hypoplasia of the corpus callosum, and multiple skin appendages: Severe frontofacionasal “dysplasia” or newly recognised syndrome?;Al‐Gazali L. I.;American Journal of Medical Genetics,1996

5. Pai syndrome: A report of a case and review of the literature;Al‐Mazrou K. A.;International Journal of Pediatric Otorhinolaryngology,2001

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