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]
Biology (Basel)Lateral 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.
Behunova J +10 more
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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.
Beauchamp MC +6 more
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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 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 ...
Zhang X +6 more
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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
A novel pathogenic variant in POLR1D (c.220dup, p.His74ProfsTer8) causes Treacher Collins syndrome type 2 in a Chinese patient: a case report. [PDF]
BMC PediatrIntroduction Treacher Collins syndrome type 2 (TCS2; OMIM# 613717) is a rare genetic disorder of craniofacial development caused by pathogenic variants in the POLR1D gene. The characteristic clinical features include downward-slanting palpebral fissures,
Zhu H +7 more
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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 +4 more
doaj +1 more source
Sleep Science, 2023 Objectives This study aimed at evaluating the risk for obstructive sleep apnea (OSA) and its frequency in adults with Treacher Collins syndrome (TCS).
Leide Vilma Fidélis-da Silva +5 more
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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
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Airway, 2022 Flexible videobronchoscopy-guided awake intubation is the standard of care in adult patients with negligible mouth opening presenting for corrective surgeries.
Anirudh Elayat +4 more
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