Tessier's Cleft Number 6 Revisited: A Series of 26 new Cases and Literature Review of 44

Autor: Philippe Pellerin, Cristiano Tonello, Renato da Silva Freitas, Xiao Jun Tang, Nivaldo Alonso

Publikováno v: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Objective To fix a gray zone left in Tessier's classification of rare clefts with cleft 6 and to give a more comprehensive description of cleft 6 anatomy. Design The material used for the research was a series of 26 clinical cases of patients with as

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c798d6bdc590ba08f0c7b3cdd6893e70
https://pubmed.ncbi.nlm.nih.gov/35285292

Alveolar Cleft Closure Managed by Primary Alveoloplasty

Autor: Marie-Paule Vazquez, Hervé Benateau, Alexis Veyssière, Philippe Pellerin

Publikováno v: Cleft Palate Craniofacial Journal
Cleft Palate Craniofacial Journal, American Cleft Palate-craniofacial Association, 2016, 53 (6), pp.752-753. ⟨10.1597/15-091⟩

International audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::242fb1b1c85d07e75a85c19a9d6f6f66
https://pubmed.ncbi.nlm.nih.gov/26575962

A case report of congenital arhinia and literature review

Autor: Youri Anastassov, Petar Rouev, Katja Kovacheva, Maxim Jonov, Philippe Pellerin, Tsvetan Marinov

Publikováno v: International Journal of Pediatric Otorhinolaryngology Extra. 2:238-242

Summary We report about a boy with congenital total arhinia and coloboma of the iris. The newborn had complete absence of external nose, nasal and paranasal cavities, with that area being flat with some elevation and firm on palpation. Congenital arh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2a596f1abd1b4043e1a542f66423ee2c
https://doi.org/10.1016/j.pedex.2007.07.002

Amniotic constriction band: a report of two cases with unique clinical presentations

Autor: Rakshit Vijay Sinai Khandeparker, Philippe Pellerin, Sunil Richardson

Publikováno v: Journal of the Korean Association of Oral and Maxillofacial Surgeons

Amniotic constriction band is a rare clinical entity with varied manifestations that range from a combination of congenital malformations to isolated malformations that are unique to each patient. The etiology of this entity remains unknown. Herein,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d1b01f4141a42b18e76d9c5451aad0e
https://doi.org/10.5125/jkaoms.2017.43.3.171

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

Autor: Myriam Oufadem, Erica H. Gerkes, Lina Basel-Vanagaite, Adila Al-Kindy, Philippe Pellerin, Jean-Paul Bonnefont, Arnold Munnich, Peter M. Kroisel, Véronique Abadie, Angela E. Lin, Vincent Couloigner, Leonard B. Kaban, Brigitte A. Meijer, Paul Aurora, Stanislas Lyonnet, Maria Bitner-Glindzicz, S. Pierrot, Muriel Holder-Espinasse, David Kilner, Christopher T. Gordon, Ruth McGowan, Michael R. Speicher, Louise C. Wilson, Jeanne Amiel, Eya Ben Bdira, Françoise Denoyelle, Yves Manach, Florence Petit, Alex Henderson, Bruno Delobel, Mateo Sanchis-Borja, Alice Vuillot, Birgit Sikkema-Raddatz, Linda P. Jakobsen, Edward S. Tobias, Sarah S. Park, Sandrine Marlin, Marie Simon, M.-P. Vazquez, Asma Omarjee, C. Rotky-Fast, Alison Stewart, Yvonne M C Hendriks, Rodger Palmer, Sylvain Breton, Sixto García-Miñaur, Michael L. Cunningham, Pernille Lindholm

Publikováno v: Journal of Medical Genetics, 50(3), 174-186. BMJ Publishing Group
Gordon, C T, Vuillot, A, Marlin, S, Gerkes, E, Henderson, A, AlKindy, A, Holder-Espinasse, M, Park, S S, Omarjee, A, Sanchis-Borja, M, Ben Bdira, E, Oufadem, M, Sikkema-Raddatz, B, Stewart, A, Palmer, R, McGowan, R, Petit, F, Delobel, B, Speicher, M R, Aurora, P, Kilner, D, Pellerin, P, Simon, M, Bonnefont, J P, Tobias, E S, Garcia-Minaur, S, Bitner-Glindzicz, M, Lindholm, P, Meijer, B A, Abadie, V, Denoyelle, F, Vazquez, M P, Rotky-Fast, C, Couloigner, V, Pierrot, S, Manach, Y, Breton, S, Hendriks, Y M C, Munnich, A, Jakobsen, L, Kroisel, P, Lin, A, Kaban, L B, Basel-Vanagaite, L, Wilson, L, Cunningham, M L, Lyonnet, S & Amiel, J 2013, ' Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome ', Journal of Medical Genetics, vol. 50, no. 3, pp. 174-186 . https://doi.org/10.1136/jmedgenet-2012-101331
JOURNAL OF MEDICAL GENETICS, 50(3), 174-186. BMJ PUBLISHING GROUP

Background Auriculocondylar syndrome (ACS) is a rare craniofacial disorder consisting of micrognathia, mandibular condyle hypoplasia and a specific malformation of the ear at the junction between the lobe and helix. Missense heterozygous mutations in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af707ccd203f73f963834d0807db89a6
https://research.vumc.nl/en/publications/d0c8f8ee-8a2a-4099-9c2a-3db0c2a9dd06