Results 11 to 20 of about 311 (84)

Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey [PDF]

American Journal of Medical Genetics Part A, 2020
AbstractMandibulofacial dysostosis with microcephaly (MFDM) is due to haploinsufficiency of spliceosomal GTPase EFTUD2. Features include microcephaly, craniofacial dysmorphology, developmental disability, and other anomalies. We surveyed parents of individuals with MFDM to expand knowledge about health, development, and parental concerns.
Katherine Abell, Robert J. Hopkin, Patricia L. Bender, Farrah Jackson, Kelly Smallwood, Bonnie Sullivan, Rolf W. Stottmann, Howard M. Saal, K. Nicole Weaver   +8 more
openaire   +4 more sources

A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report [PDF]

Molecular Case Studies, 2022
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare genetic disorder inherited in an autosomal dominant pattern. Major characteristics include developmental delay, craniofacial malformations such as malar and mandibular hypoplasia, and ear anomalies. Here, we report a 4.5-yr-old female patient with symptoms fitting MFDM.
Muhammad Kohailan, Omayma Al-Saei, Sujitha Padmajeya, Waleed Aamer, Najwa Elbashir, Ammira Al-Shabeeb Akil, Abdul-Rauf Kamboh, Khalid Fakhro   +7 more
openaire   +3 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

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly [PDF]

The American Journal of Human Genetics, 2012
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a recognizable dysmorphic appearance. Major sequelae, including choanal atresia, sensorineural hearing loss, and cleft palate, each occur in a significant proportion of affected individuals.
Lines, Matthew A., Huang, Lijia, Schwartzentruber, Jeremy, Douglas, Stuart L., Lynch, Danielle C., Beaulieu, Chandree, Guion-Almeida, Maria Leine, Zechi-Ceide, Roseli Maria, Gener, Blanca, Gillessen-Kaesbach, Gabriele, Nava, Caroline, Baujat, Genevieve, Horn, Denise, Kini, Usha, Caliebe, Almuth, Alanay, Yasemin, Utine, Gulen Eda, Lev, Dorit, Kohlhase, Jurgen, Grix, Arthur W., Lohmann, Dietmar R., Hehr, Ute, Boehm, Detlef, Majewski, Jacek, Bulman, Dennis E., Wieczorek, Dagmar, Boycott, Kym M., Consortium, F.O.R.G.E. Canada   +27 more
openaire   +4 more sources

“Mandibulofacial dysostosis with microcephaly” caused by EFTUD2 mutations: Expanding the phenotype [PDF]

American Journal of Medical Genetics Part A, 2012
AbstractHeterozygous mutations in the EFTUD2 were identified in 12 individuals with a rare sporadic craniofacial condition termed Mandibulofacial dysostosis with microcephaly (MIM 610536). We present clinical and radiographic features of three additional patients with de novo heterozygous mutations in EFTUD2.
Daniela V, Luquetti, Anne V, Hing, Mark J, Rieder, Deborah A, Nickerson, Emily H, Turner, Joshua, Smith, Sarah, Park, Michael L, Cunningham   +7 more
openaire   +3 more sources

A novel de novo missense mutation in EFTUD2 identified by whole‐exome sequencing in mandibulofacial dysostosis with microcephaly [PDF]

Journal of Clinical Laboratory Analysis, 2022
AbstractBackgroundMandibulofacial dysostosis with microcephaly (MFDM) is a rare multiple malformation syndrome characterized by malar and mandibular hypoplasia and congenital‐ or postnatal‐onset microcephaly induced by haploinsufficiency of (elongation factor Tu GTP‐binding domain‐containing 2) EFTUD2.MethodsWe report the case of a 16‐month‐old boy ...
Mei Yang, Yanyan Liu, Ziyuan Lin, Huaqin Sun, Ting Hu   +4 more
openaire   +3 more sources

A novel EFTUD2 splicing variant causing mandibulofacial dysostosis with microcephaly: a case report [PDF]

Translational Pediatrics
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant disorder caused by pathogenic variants in the EFTUD2 gene, presenting with craniofacial anomalies, microcephaly, and systemic abnormalities. Despite several reported cases, the genetic and molecular mechanisms underlying MFDM remain inadequately understood. This case study
Xu, Ying, Zhang, Xiwen, Lu, Wenli, Xiao, Yuan, Ma, Xiaoyu, Chen, Lifen, Dong, Zhiya   +6 more
openaire   +3 more sources

Recurrent mandibulofacial dysostosis, Guion-Almeida type in consecutive pregnancies due to maternal mosaicism of a novel EFTUD2 variant: a case report and review of the literature [PDF]

Journal of Medical Case Reports
Background Mandibulofacial dysostosis, Guion-Almeida type is an autosomal dominant disorder characterized by craniofacial malformations and intellectual disability.
Bing Wang, Chunxiao Hua, Qimeng Liu, Dajun Cai   +3 more
doaj   +2 more sources

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

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

First-trimester detection of micrognathia as a presentation of mandibulofacial dysostosis with microcephaly

Journal of Obstetrics and Gynaecology, 2020
Mandibulofacial dysostosis with microcephaly (MFDM) is a genetic syndrome comprising microcephaly, first and second branchial arch anomalies, hearing loss, dysmorphic features, systemic malformatio...
Bi-Qiu, Xu, Li, Zhen, Dong-Zhi, Li
openaire   +2 more sources