Results 11 to 20 of about 1,356 (192)

Mandibulofacial dysostosis (Treacher Collins syndrome): A case report and review of literature [PDF]

Contemporary Clinical Dentistry, 2014
Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable phenotypic expression. It presents with characteristic facial appearance enabling it to be easily recognizable.
Raj Renju, Balagopal R Varma, Suresh J Kumar, Parvathy Kumaran   +3 more
doaj   +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]

Biology
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.
Jana Behunova, Helga Rehder, Anton Dobsak, Susanne G. Kircher, Lucas L. Boer, Andreas A. Mueller, Janina M. Patsch, Eduard Winter, Roelof-Jan Oostra, Eva Piehslinger, Karoline M. Reich   +10 more
doaj   +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 Pediatrics
Introduction 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,
Hui Zhu, Min Du, Shuyao Zhu, Yu Huang, Lan Zeng, Yu Kuai, Fu Xiong, Ying Pang   +7 more
doaj   +2 more sources

EFTUD2 Regulates Cortical Morphogenesis via Modulation of Caspase‐3 and Aifm1 Splicing Pathways

Advanced Science
Elongation 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, Ying Li, Yan Yu, Mingze Cai, Hao Li, Minghe Huang, Guochao Yang, Jiageng Guo, Huailin Wang, Zhihong Song, Wei Shen, Huihui Jiang, Haitao Wu   +12 more
doaj   +2 more sources

Mandibulofacial Dysostosis Attributed to a Recessive Mutation of CYP26C1 in Hereford Cattle [PDF]

Genes, 2020
In spring 2020, six Hereford calves presented with congenital facial deformities attributed to a condition we termed mandibulofacial dysostosis (MD). Affected calves shared hallmark features of a variably shortened and/or asymmetric lower mandible and ...
Shi-hua Xiang, Jessica L Petersen, David J Steffen   +2 more
exaly   +2 more sources

Viable Ednra ^Y129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation. [PDF]

Mamm Genome, 2016
Sabrautzki S, Sandholzer MA, Lorenz-Depiereux B, Brommage R, Przemeck G, Vargas Panesso IL, Vernaleken A, Garrett L, Baron K, Yildirim AO, Rozman J, Rathkolb B, Gau C, Hans W, Hoelter SM, Marschall S, Stoeger C, Becker L, Fuchs H, Gailus-Durner V, Klingenspor M, Klopstock T, Lengger C, Stefanie L, Wolf E, Strom TM, Wurst W, de Angelis MH.   +27 more
europepmc   +2 more sources

Optimal Diagnostic and Treatment Practices for Facial Dysostosis Syndromes: A Clinical Consensus Statement Among European Experts. [PDF]

J Craniofac Surg
Facial dysostosis syndromes (FDS) are rare congenital conditions impacting facial development, often leading to diverse craniofacial abnormalities. This study addresses the scarcity of evidence on these syndromes about optimal diagnostic and treatment ...
Van Roey VL, Irvine WFE, All Expert Panel Members of the Facial Dysostosis Consensus Statement.   +2 more
europepmc   +4 more sources

Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia [PDF]

American Journal of Human Genetics, 2015
K Nicole Weaver, Roseli Maria Zechi-Ceide, Igor Adameyko   +2 more
exaly   +2 more sources

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction [PDF]

American Journal of Human Genetics, 2015
K Nicole Weaver, Kristin E Noack Watt, Robert B Hufnagel   +2 more
exaly   +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