Results 91 to 100 of about 2,017 (144)

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?

, 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, Maria Rita Santos Passos-Bueno, Siulan Vendramini-Pittoli, Roseli Maria Zechi-Ceide   +3 more
core  

Towards consensus on the treatment of congenital craniofacial conditions: the discussion section of a doctoral thesis

Journal of Plastic Surgery and Hand Surgery
Background: Congenital craniofacial conditions are a diverse group of rare and complex disorders, leading to significant functional and psychosocial challenges.
Victor van Roey, Irene M.J. Mathijssen, Aebele B. Mink van der Molen, Sarah L. Versnel   +3 more
doaj   +1 more source

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

, 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, Lucero Quezada, Christian Xavier   +1 more
core  

The transcription of the main gene associated with Treacher–Collins syndrome (TCOF1) is regulated by G-quadruplexes and cellular nucleic acid binding protein (CNBP)

Scientific Reports
Treacle ribosome biogenesis factor 1 (TCOF1) is responsible for about 80% of mandibular dysostosis (MD) cases. We have formerly identified a correlation between TCOF1 and CNBP (CCHC-type zinc finger nucleic acid binding protein) expression in human ...
Mauco Gil Rosas, Cielo Centola, Mercedes Torres, Valeria S. Mouguelar, Aldana P. David, Ernesto J. Piga, Dennis Gomez, Nora B. Calcaterra, Pablo Armas, Gabriela Coux   +9 more
doaj   +1 more source

Gene-environment interactions modulate the phenotype severity in mouse models of congenital craniofacial syndromes

The Journal of Clinical Investigation
Birth defects are the leading cause of infant mortality, and most inborn errors of development are multifactorial in origin resulting from complex gene-environment interactions.
Sharien Fitriasari, Roberta Fiorino, Thoa H.K. Truong, Mary C. McKinney, Jill Dixon, Michael J. Dixon, Paul A. Trainor   +6 more
doaj   +1 more source

Mandibulofacial dysostosis with microcephaly: a syndrome to remember. [PDF]

BMJ Case Rep, 2019
Silva JB, Soares D, Leão M, Santos H.
europepmc   +1 more source

Microssomia otomandibular: relato de caso Otomandibular microsomia: case report

Brazilian Journal of Otorhinolaryngology, 2011
Jozinete Vieira Pereira, Luiz Guedes de Carvalho Neto, Rudyard dos Santos Oliveira, Lúcia de Fátima de Oliveira Costa, Rosemberg de Oliveira Costa   +4 more
doaj   +1 more source

A novel <i>EFTUD2</i> splicing variant causing mandibulofacial dysostosis with microcephaly: a case report. [PDF]

Transl Pediatr
Xu Y, Zhang X, Lu W, Xiao Y, Ma X, Chen L, Dong Z.   +6 more
europepmc   +1 more source

Whole-Exome Sequencing Revealed a Novel De Novo Pathogenic EFTUD2 Variant in Mandibulofacial Dysostosis, Guion-Almeida Type:Reinforcing Links to Choanal and Oesophageal Atresia

Mandibulofacial dysostosis type Guion-Almeida (MFDGA) is a rare autosomal dominant disorder characterized by malar and mandibular hypoplasia, microcephaly and diverse craniofacial and extracranial malformations, caused by pathogenic variants in the ...
Gorjizadeh, Nassim, van Dijk-Bos, Krista K; id_orcid, Jazayeri, Omid, Salehiomran, Mohammad Reza, Sinke, Richard J   +4 more
core   +1 more source