Results 31 to 40 of about 322 (66)

Mandibulofacial dysostosis. description of rare case study

, 2018
У статті проаналізований випадок пацієнта віком 7 років, який народився із нижньощелепно-лицевим дизостозом. Під час збору анамнезу було з’ясовані особливості перебігу вагітності: антибіотико-терапія на п’ятому тижні вагітності, носій Torch, багатоводдя,
Дмитренко, Марина Іванівна, Дмитренко, Марина Ивановна, Dmytrenko, M. I.   +2 more
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Disostose espôndilo-costal associada a defeitos de fechamento do tubo neural [PDF]

, 2009
OBJETIVO: Salientar a relação dos defeitos de fechamento do tubo neural com a disostose espôndilo-costal (DEC) por meio da descrição de três pacientes. DESCRIÇÃO DOS CASOS: Paciente 1: menina branca, 22 meses, nascida com mielomeningocele lombar.
Rosana Cardoso M. Rosa, Paulo Ricardo G. Zen, Rafael Fabiano M. Rosa, Giorgio Adriano Paskulin, Carla Graziadio   +4 more
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Mandibulofacial dysostosis. Case report.

, 1995
A case of mandibulofacial dysostosis (Treacher Collins syndrome) is presented. Clinical features and skull radiographs revealed typical anomalies associated with the syndrome.
Beena, V., Anil, S., Vijayakumar, T., Remani, P., Ankathil, R.   +4 more
core  

Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia [PDF]

, 2015
The endothelin receptor type A (EDNRA) signaling pathway is essential for the establishment of mandibular identity during development of the first pharyngeal arch.
Moura, Priscila Padilha, Maria Leine Guion-Almeida, Patrick Nitschké, Katsanis, Nicholas, Guion-Almeida, Maria Leine, Nitschké, Patrick, Ernfors, Patrik, Priscila Padilha Moura, Christelle Golzio, Garib, Daniela Gamba, Nicholas Katsanis, Munnich, Arnold, Howard M. Saal, Arnold Munnich, Marie-Ange Delrue, Norine Voisin, Breton, Sylvain, Clouthier, David E., Weaver, David D., Masson, Cécile, Gordon, Christopher T., Oufadem, Myriam, Roseli Maria Zechi-Ceide, Picard, Arnaud, Hopkin, Robert J., Golzio, Christelle, Stanislas Lyonnet, Lacombe, Didier, Martin Biosse-Duplan, Hufnagel, Robert B., Robert J. Hopkin, Hiroki Kurihara, Biosse-Duplan, Martin, Saal, Howard M., Kurihara, Hiroki, Tavares, Andre L.P., David D. Weaver, Bole-Feysot, Christine, K. Nicole Weaver, Sébastien Pierrot, Myriam Oufadem, Weaver, K. Nicole, Sylvain Breton, Christopher T. Gordon, Lyonnet, Stanislas, Arnaud Picard, Nitschke´, Marie-Ange, Patrik Ernfors, Christine Bole-Feysot, Andre L.P. Tavares, Daniela Gamba Garib, Jeanne Amiel, Kurihara, Yukiko, Adameyko, Igor, Voisin, Norine, Delrue, Marie-Ange, David E. Clouthier, Pierrot, Se´bastien, Igor Adameyko, Cécile Masson, Robert B. Hufnagel, Madsen, Erik C., Amiel, Jeanne, Erik C. Madsen, Zechi-Ceide, Roseli Maria, Pierrot, Sébastien, Didier Lacombe, Yukiko Kurihara   +67 more
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Dual Diagnosis of Achondroplasia and Mandibulofacial Dysostosis with Microcephaly

BackgroundAchondroplasia and mandibulofacial dysostosis with microcephaly (MFDM) are rare monogenic, dominant disorders, caused by gain-of-function fibroblast growth factor receptor 3 (FGFR3) gene variants and loss-of-function elongation factor Tu GTP ...
Baker, Eleanor, Canham, Natalie, Kershaw, Chris, McCarthy, Emma, Parks, Christopher, Lyulcheva-Bennett, Ekaterina, Bennett, Daimark, Higgs, Jenny, Hennigan, Dawn, Gillies, Stuart   +9 more
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A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report

, 2020
Background Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant genetic disease characterized by intellectual and growth retardations, as well as major microcephaly, induced by missense and splice site variants or ...
Carapito, Raphaël, Khalid Fakhro, Jennifer Pasquier, Fakhro, K. (Khalid), Froguel, P. (Philippe), Arthur Jacob, Arash Rafii, Seiamak Bahram, Pasquier, J. (Jennifer), Auradé, Frédéric, Halabi, Najeeb, Molitor, A. (Anne), Jacob, Arthur, Molitor, Anne, Fakhro, Khalid, Bahram, Seiamak, Frédéric Auradé, Najeeb Halabi, Pasquier, Jennifer, Géraldine Viot, Halabi, N. (Najeeb), Rafii, Arash, Raphael Carapito, Viot, G. (Géraldine), Carapito, R. (Raphaël), Auradé, F. (Frédéric), Bahram, S. (Seiamak), Jacob, A. (Arthur), Viot, Géraldine, Rafii, A. (Arash), Anne Molitor, Philippe Froguel, Froguel, Philippe   +32 more
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Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses [PDF]

, 2017
Craniofacial anomalies account for approximately one-third of all congenital birth defects reflecting the complexity of head and facial development. Craniofacial development is dependent upon a multipotent, migratory population of neural crest cells ...
Karla Terrazas, Jill Dixon, Paul A. Trainor, Dixon, Jill; id_orcid, Trainor, Paul A., Terrazas, Karla, Michael J. Dixon, Dixon, Michael   +7 more
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A Morphological and Volumetric Airway Analysis of Patients with Mandibulofacial Abnormalities Using Cone Beam Computed Tomography

, 2015
Introduction: The type and severity of mandibulofacial abnormalities affects the size and shape of the pharynx as patients affected by these conditions often have complaints of snoring and respiratory difficulties during sleep. Purpose: The objectives of
Jalali, Elnaz
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EFTUD2 missense variants disrupt protein function and splicing in Mandibulofacial Dysostosis Guion-Almeida type

, 2020
Pathogenic variants in the core spliceosome U5 snRNP gene EFTUD2/SNU114 cause the craniofacial disorder Mandibulofacial Dysostosis Guion-Almeida type (MFDGA).
Thomas, Huw, Pingault, Veronique, Attie-Bitach, Tania, Wood, Katherine, Buczek, Weronika, Newman, William; id_orcid, Gordon, Christopher, Hentges, Kathryn; id_orcid, Amiel, Jeanne, O'Keefe, Raymond; id_orcid, Varghese, Vinod   +10 more
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Síndrome de Franceschetti-Klein: Achados de imagem [PDF]

A síndrome de Franceschetti-Klein (SFK) teve somente em 1900 as suas principais características descritas por E. Treacher-Collins. E uma doença autossômica dominante rara que compromete o desenvolvimento craniofacial e apresenta uma incidência de cerca ...
de Aguiar da Costa, Maiara, Burato Wessler, Leticia, Lin, Jaime, Brunel Alves, Anita, Ludvig Gonçalves, Cinara   +4 more
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