Results 1 to 10 of about 3,759 (221)

Recurrent mandibulofacial dysostosis, Guion-Almeida type in consecutive pregnancies due to maternal mosaicism of a novel EFTUD2 variant: a case report and review of the literature [PDF]

Journal of Medical Case Reports
Background Mandibulofacial dysostosis, Guion-Almeida type is an autosomal dominant disorder characterized by craniofacial malformations and intellectual disability.
Bing Wang, Chunxiao Hua, Qimeng Liu, Dajun Cai   +3 more
doaj   +2 more sources

Modeling craniofacial spliceosomopathies: a pathway toward deciphering disease mechanisms [PDF]

Frontiers in Cell and Developmental Biology
Craniofacial spliceosomopathies are syndromes resulting from mutations in components of the spliceosome, presenting with facial dysostosis in combination with other phenotypes.
Casey Griffin
doaj   +2 more sources

Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2 [PDF]

Molecular Genetics & Genomic Medicine
Background Mandibulofacial dysostosis with microcephaly (MFDM, OMIM# 610536) is a rare monogenic disease that is caused by a mutation in the elongation factor Tu GTP binding domain containing 2 gene (EFTUD2, OMIM* 603892).
Ying Chen, Run Yang, Xin Chen, Naier Lin, Chenlong Li, Yaoyao Fu, Aijuan He, Yimin Wang, Tianyu Zhang, Jing Ma   +9 more
doaj   +2 more sources

Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse

PLoS ONE, 2019
Mutations in EFTUD2 are responsible for the autosomal dominant syndrome named MFDM (mandibulofacial dysostosis with microcephaly). However, it is not clear how reduced levels of EFTUD2 cause abnormalities associated with this syndrome.
Anissa Djedid, Loydie Anne Jerome-Majewska   +1 more
exaly   +2 more sources

Craniofacial Dysostosis

Indian Journal of Ophthalmology, 1966
Garg K, Saxena R, Bisaria K
doaj   +2 more sources

The Core Splicing Factors EFTUD2, SNRPB and TXNL4A Are Essential for Neural Crest and Craniofacial Development

Journal of Developmental Biology, 2022
Mandibulofacial dysostosis (MFD) is a human congenital disorder characterized by hypoplastic neural-crest-derived craniofacial bones often associated with outer and middle ear defects.
Byung-Yong Park, Melanie Tachi-Duprat, Chibuike Ihewulezi, Arun Devotta, Jean-Pierre Saint-Jeannet   +4 more
doaj   +1 more source

Fibrous dysplasia: rare manifestation in the temporal bone

Brazilian Journal of Otorhinolaryngology, 2022
Introduction: Fibrous dysplasia is a benign disorder, in which normal bone is replaced by fibrosis and immature bone trabeculae, showing a similar distribution between the genders, and being more prevalent in the earlier decades of life.
Thaís de Carvalho Pontes-Madruga, Halana Valéria Carneiro Filgueiras, Daniel Marcus San da Silva, Leonardo Sales da Silva, José Ricardo Gurgel Testa   +4 more
doaj   +1 more source

Nasal reconstruction using ribs in a patient with Binder syndrome: A case report and literature review [PDF]

Revista Brasileira de Cirurgia Plástica, 2023
Introduction: Binder’s syndrome can also be known as maxillonasal dysplasia and it is a congenital malformation characterized by nasomaxillary hypoplasia resulting from an underdevelopment of the middle facial skeleton.
Oona Tomiê Daronch, Renata Fernanda Ramos Marcante, Laisa Brandão Carvalho, Aristides Augusto Palhares   +3 more
doaj   +1 more source

First case report of Nager syndrome patient from Georgia

SAGE Open Medical Case Reports, 2022
Nager syndrome (MIM #154400) is a rare acrofacial dysostosis syndrome predominantly characterized by malformations in craniofacial and preaxial limb bones. Most cases are sporadic and present with significant clinical heterogeneity.
Tinatin Tkemaladze, Kakha Bregvadze, Eka Kvaratskhelia, Manish Aaryan Kapoor, Nino Orjonikidze, Elene Abzianidze   +5 more
doaj   +1 more source

A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation. [PDF]

, 2014
Nager syndrome, or acrofacial dysostosis type 1 (AFD1), is a rare multiple malformation syndrome characterized by hypoplasia of first and second branchial arches derivatives and appendicular anomalies with variable involvement of the radial/axial ray. In
BOTTILLO, IRENE, Castori M, D'ANGELANTONIO, DANIELA, De Bernardo C, GRAMMATICO, Paola, Morlino S, Scassellati Sforzolini G, Silvestri E   +7 more
core   +1 more source