Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse. [PDF]
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.
Marie-Claude Beauchamp +6 more
doaj +3 more sources
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update [PDF]
Human 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 +5 more sources
Mandibulofacial dysostosis [PDF]
South African Journal of Radiology, 2012 Two cases of mandibulofacial dystostosis are presented in order to describe the features associated with the condition. Computed tomography (CT) is frequently performed on these patients to aid in surgical planning.
Hein Els, Shaun Scheepers
doaj +3 more sources
Journal of Orofacial Sciences, 2013 Acrofacial dysostosis (AFD) is a generic name for a variety of different but possibly related genetic disorders that result in craniofacial and limb malformations and are, therefore, categorized under oroacral disorders.
Arpita Rai +3 more
doaj +2 more sources
Novel TCOF1 Frameshift Variant and Phenotypic Heterogeneity in a Chinese Family With Treacher Collins Syndrome. [PDF]
Mol Genet Genomic MedUsing whole‐exome sequencing, we identified a novel TCOF1 frameshift variant (c.1601_1602delCC, p.Pro534Leufs*15) in a Chinese family with Treacher Collins syndrome. The variant produces a severely truncated Treacle protein lacking key functional domains.
Fan F, Chen Y, Zhang T, Ma J.
europepmc +2 more sources
Facial Bone Defects Associated with Lateral Facial Clefts Tessier Type 6, 7 and 8 in Syndromic Neurocristopathies: A Detailed Micro-CT Analysis on Historical Museum Specimens [PDF]
BiologyLateral facial clefts are rare and often part of more complex syndromic neurocristopathies. According to Tessier’s classification, they correspond to facial cleft numbers 6, 7 and 8.
Jana Behunova +10 more
doaj +2 more sources
The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort. [PDF]
Clin GenetThis study expands the clinical spectrum of Miller syndrome by reporting novel features including preaxial defects, facial nevus simplex, and optic atrophy. It also includes the first patients with homozygous DHODH variants, emphasizing the importance of early diagnosis and the variability of presentations, from severe prenatal to mild adult phenotypes.
Aubert Mucca M +13 more
europepmc +2 more sources
EFTUD2 Regulates Cortical Morphogenesis via Modulation of Caspase‐3 and Aifm1 Splicing Pathways
Advanced ScienceElongation Factor Tu GTP‐Binding Domain Containing 2 (EFTUD2), a core spliceosomal GTPase associated with Mandibulofacial Dysostosis with Microcephaly (MFDM), plays a mechanistically undefined role in cerebral development.
Liping Chen +12 more
doaj +2 more sources
Pregnancy with treacher collins syndrome in mechanical heart valve: a case report and discussion treacher collins syndrome and MHV [PDF]
BMC Pregnancy and ChildbirthTreacher Collins syndrome is a congenital genetic disorder, also known as mandibulofacial dysostosis with deafness syndrome. In addition to distinct facial abnormalities, patients typically present with deafness and other associated manifestations, such ...
Xiaoyun Zhang +6 more
doaj +2 more sources
Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey [PDF]
American Journal of Medical Genetics, Part A, 2021 Kelly Smallwood +2 more
exaly +2 more sources