Results 21 to 30 of about 1,372 (198)

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

Mandibulofacial dysostosis with microcephaly: a syndrome to remember [PDF]

BMJ Case Reports, 2019
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare condition that causes abnormalities of the head and face. Other major extracranial malformations may also be found. The authors present a case of an MFDM in a 35 weeks newborn with antenatal growth restriction.
Joana Brandão Silva, Diana Soares, Miguel Leão, Helena Santos   +3 more
openaire   +4 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

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 ...
Bouzariouh, Anouar, Faasse, Mariët, Frykholm, Peter, Goverde, Anne, Heinen, Arnoud, Heliövaara, Arja, Irvine, Willemijn F.E., Joosten, Koen, Kljajić, Marizela, Larsson, Eva, Loudon, Sjoukje, Marinac, Ivana, Mathijssen, Irene, Munill, Montserrat, Munkhammar, Åsa Alberius, Poldermans, Henriette, Thierry, Briac, Tjoa, Stephen, Topa, Alexandra, Valvassori, Maria, van Dooren, Marieke, van Heesch, Gwen, van Nieuwenhoven, Christianne, Van Roey, Victor L., Versnel, Sarah, Weissbach, Elin, Wolvius, Eppo, Zafra Vallejo, Víctor, Åsten, Pamela Marika   +28 more
core   +3 more sources

Viable 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
core   +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

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

Awake Bronchoscopy-Guided Nasotracheal Intubation in a Child with Treacher Collins Syndrome and Obstructive Sleep Apnoea

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, Vineeth Krishnan, Rajula Surendranath Reddy, CP Dhaneesh, Shynimol George   +4 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

Treacher Collins syndrome-a case report and review of literature [PDF]

, 2011
Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is named after E Treacher Collins who described the essential components of the condition in 1900 ...
Baldawa, Rahul, Kasat, Vikrant O.
core   +1 more source