Results 41 to 50 of about 322 (66)

A ESCOLARIZAÇÃO NA PERSPECTIVA SÓCIO-HISTÓRICA DE UMA CRIANÇA COM SÍNDROME DE TREACHER COLLINS NA EDUCAÇÃO INFANTIL [PDF]

open access: yes, 2019
Este estudo tem como objetivo, entender como se dá a escolarizaçãode uma criança na Educação Infantil com a Síndrome de Treacher Collins (STC)1também conhecida como Disostose Mandibulofacial, um distúrbio hereditáriocaracterizado por anomalias ...
de Oliveira Machado Bravo, Dirlan
core   +1 more source

Disostosis mandibulofacial (síndrome de treacher collins). Reporte de un caso

open access: yes, 2019
La disostosis mandibulofacial o síndrome de TreacherCollins.es un rarotrastornocraneofacial congénito de herencia autosómica dominante. A pesar que su expresión fenotípica es muy variable, el diagnóstico es fundamentalmente clínico.
Piedra Bravo, Yadira Lucía   +1 more
core  

Hereditary macrostomus in the rabbit: a model for Treacher Collins syndrome, one form of mandibulofacial dysostosis.

open access: yes, 1979
Macrostomus in the rabbit was diagnosed externally by the presence of papillae at the corners of the mouth. Internally the effect is on the zygomatic complex and is extremely variable.
Fox, R R, Crary, D D
core   +1 more source

Mandibulofacial Syndrome With Growth and Mental Retardation, Microcephaly, Ear Anomalies With Skin Tags, and Cleft Palate in a Mother and Her Son: Autosomal Dominant or X-Linked Syndrome?

open access: yes, 2020
We report on a Brazilian mother and her son affected with mandibulofacial dysostosis, growth and mental retardation, microcephaly, first branchial arch anomalies, and cleft palate.
Maria Leine Guion-Almeida   +3 more
core  

Viable Ednramice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation.

open access: yes, 2016
Animal models resembling human mutations are valuable tools to research the features of complex human craniofacial syndromes. This is the first report on a viable dominant mouse model carrying a non-synonymous sequence variation within the endothelin ...
Sabrautzki, Sibylle;Sandholzer, Michael A;Lorenz-Depiereux, Bettina;Brommage, Robert;Przemeck, Gerhard;Vargas Panesso, Ingrid L;Vernaleken, Alexandra;Garrett, Lillian;Baron, Katharina;Yildirim, Ali Ö;Rozman, Jan;Rathkolb, Birgit;Gau, Christine;Hans, Wolfgang;Hoelter, Sabine M;Marschall, Susan;Stoeger, Claudia;Becker, Lore;Fuchs, Helmut;Gailus-Durner, Valerie;Klingenspor, Martin;Klopstock, Thomas;Lengger, Christoph;Stefanie, Leuchtenberger;Wolf, Eckhard;Strom, Tim M;Wurst, Wolfgang;de Angelis, Martin Hrab?
core   +1 more source

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update [PDF]

open access: yesHuman Mutation, 2016
Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features, and, in some cases, esophageal atresia.
Karen Gripp   +2 more
exaly   +3 more sources
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Via Aérea Difícil Pediátrica: Disostose Mandibulofacial Tipo Guion-Almeida

2018
Revista da Sociedade Portuguesa de Anestesiologia, Vol 27 No 1 (2018)
Gouveia, Francisco   +3 more
openaire   +1 more source

Mega Fibula Free Flap for Reconstruction of an Extensive Mandibulofacial Defect

Annals of Otology, Rhinology and Laryngology, 2021
Akina Tamaki, Chen Lin
exaly  

Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey

American Journal of Medical Genetics, Part A, 2021
Kelly Smallwood   +2 more
exaly  

Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider analysis?

European Journal of Medical Genetics, 2022
Byung Yoon Choi   +2 more
exaly  
mandibulofacial dysostosis
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