Results 11 to 20 of about 1,362 (197)

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. [PDF]

Hum Mutat, 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. Haploinsufficiency of a spliceosomal GTPase, U5-116 kDa/EFTUD2, is responsible.
Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter AG, Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL, López-González V, Martinezmoles J, Meldrum C, Mirzaa GM, Morel CF, Morton JE, Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, Schönewolf-Greulich B, Shears DJ, Silver J, Smith AC, Temple IK, UCLA Clinical Genomics Center, van de Kamp JM, van Dijk FS, Vandersteen AM, White SM, Zackai EH, Zou R, Care4Rare Canada Consortium, Bulman DE, Boycott KM, Lines MA.   +53 more
europepmc   +4 more sources

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, Anissa Djedid, Kevin Daupin, Kayla Clokie, Shruti Kumar, Jacek Majewski, Loydie Anne Jerome-Majewska   +6 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

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

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

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort. [PDF]

Clin Genet
This 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, Brunelle P, Doco Fenzy M, Vanlerberghe C, Dieux A, Feyereisen L, Jobic F, Lode L, Le Guyader G, Petit F, Schaefer E, Zaafrane-Khachnaoui K, Ziegler A, Patat O.   +13 more
europepmc   +2 more sources

Obstructive Sleep Apnea in Adults with Treacher Collins Syndrome is Related with Altered Anthropometric Measurements, Increased Blood Pressure and Impaired Quality of Life

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, Sergio Henrique Kiemle-Trindade, Maria Noel Marzano-Rodrigues, Laís Hollara Medeiros, Cristiano Tonello, Ivy Kiemle Trindade-Suedam   +5 more
doaj   +1 more source

Laryngeal mask ventilation in patient with Treacher Collins syndrome [PDF]

, 2021
Introduction: Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development.Case description: A 5-year-old female patient (weight 16.8 kg, height 106 cm), ASA III, was admitted to our hospital for plastic surgery of the ...
Marinov, Ts.
core   +2 more sources