Results 41 to 50 of about 4,358 (198)

Damaging variants in FOXI3 cause microtia and craniofacial microsomia [PDF]

, 2022
PURPOSE: Craniofacial microsomia (CFM) represents a spectrum of craniofacial malformations, ranging from isolated microtia with or without aural atresia to underdevelopment of the mandible, maxilla, orbit, facial soft tissue, and/or facial nerve.
Duenas-Roque, Milagros M., Luquetti, Daniela V., Heike, Carrie L., Timberlake, Andrew T., Quintanilla-Dieck, Lourdes, Quiat, Daniel, Tumblin, Melissa, Quintanilla Dieck, Lourdes, Porras-Hurtado, Gloria L., Cunningham, Michael L., Duenas Roque, Milagros M., McDonough, Barbara, Gorham, Joshua M., Artunduaga, Maria A., Eavey, Roland D., Seidman, Jonathan G., Osorno, Gabriel, Zarante, Ignacio, Pachajoa, Harry, De Palma, Steven R., Serrano, Luis, Porras Hurtado, Gloria L., Hurtado-Villa, Paula, DePalma, Steven R., Hing, Anne V., Gustafson, Jonas A., Seidman, Christine E., Curran, Justin J., Hurtado Villa, Paula, Nicolau, Yamileth, Hamdan, Usama   +30 more
core   +1 more source

Whole‐exome sequencing analysis in 10 families of sporadic microtia with thoracic deformities

Molecular Genetics & Genomic Medicine, 2021
Background Microtia is a congenital malformation of the external ear and may occur as an isolated deformity or as part of a syndrome. Our previous study found a high correlation between microtia and thoracic deformities, thus, we propose that external ...
Meirong Yang, Xiaosheng Lu, Ye Zhang, Changchen Wang, Zhen Cai, Zhengyong Li, Bo Pan, Haiyue Jiang   +7 more
doaj   +1 more source

Genetics of microtia and associated syndromes

, 2009
: Microtia is a congenital anomaly, characterised by a small, abnormally shaped auricle (pinna). It is usually accompanied by a narrow, blocked or absent ear canal. Microtia can occur as the only clinical abnormality or as part of a syndrome.
Alasti, Fatemeh, Van Camp, Guy, Alasti, F.   +2 more
core   +1 more source

Lop Ear to Conchal Microtia [PDF]

, 2022
BACKGROUND The lop ear deformity is defined by a deficient helix and scapha, underdeveloped anthelix, and downfolding of the helix. The terminology used is still confusing, and the treatment is not entirely structured.
Mohammed Aldabbas, Aldabbas, Mohammed, Ioana Lese, Lese, Ioana, Mazeed, Ahmed S, Bulstrode, Neil W, Neil W. Bulstrode, Ahmed S. Mazeed   +7 more
core   +1 more source

Treatment of Ectopic Earlobe in Microtia Reconstruction Using Delayed Postauricular Skin Flap

Ear, Nose & Throat Journal, 2022
Objective: This article discusses a treatment technique for ectopic earlobe in microtia reconstruction using a delayed postauricular skin flap. Methods: From January 2015 to September 2018, microtia reconstruction using a delayed postauricular skin flap ...
Wei Ding MD, Bo Zhang MD, Zihan Wu MD, Yang Zhang MSc, Xiren Long BSc, Suqi Xu BSc, Gaofeng Li MD   +6 more
doaj   +1 more source

Clinical application of additive manufacturing in maxillofacial prosthetics: A scoping review

Journal of Prosthodontics, EarlyView.
Abstract Purpose Digital workflows provide significant advances in prosthodontics, especially in terms of accuracy, reduced treatment duration, and quality of life. Moreover, additive manufacturing (AM) is particularly adapted for the fabrication of personalized complex prototypes required for the prosthetic rehabilitation of maxillofacial defects ...
Hélène Magro, Adrien Laran, Adrien Naveau   +2 more
wiley   +1 more source

Mikrotia

Saintika Medika, 2017
Microtia is an incompletely formed ear. The term “micro” means small and “otia” means ear. Hence, when translated literally, “microtia” means small ear. At times a bump of tissue is present in the location where an ear would normally be found.
Ruby Ruana A.
doaj   +1 more source

Evaluation of a Facial Dysmorphology Analysis Algorithm (Face2Gene) in Identifying Treacher Collins Syndrome Amongst Diverse Population

Orthodontics &Craniofacial Research, EarlyView.
ABSTRACT Background Treacher Collins Syndrome (TCS) is an uncommon congenital disease of the craniofacial complex. While there are ‘classic’ facial manifestations of TCS, they present with a wide range of variability. Face2Gene (F2G) is a deep‐learning algorithm that can provide differential diagnoses of syndromes via analysis of 2‐dimensional facial ...
Jie Han Timothy Sng, Jonas Jun Jie Hue, Josep Rubio‐Palau   +2 more
wiley   +1 more source

The role of genetic factors in microtia: A systematic review [PDF]

Background: Microtia is a congenital malformation of the outer ears caused by improper embryonic development. The origin of microtia and causes of its variations remain unknown.
Rachmaniar Pramanasari, -, Alexandria Stephanie, -, Indri Lakhsmi Putri, Indri, Moshe Kon, -, Citrawati Dyah Kencono Wungu, -   +4 more
core   +1 more source

Whole-Exome Sequencing of Discordant Monozygotic Twin Families for Identification of Candidate Genes for Microtia-Atresia

Frontiers in Genetics, 2020
ObjectiveWe used data from twins and their families to probe the genetic factors contributing to microtia-atresia, in particular, early post-twinning variations that potentially account for the discordant phenotypes of monozygotic twin pairs.MethodsSix ...
Xinmiao Fan, Lu Ping, Hao Sun, Yushan Chen, Pu Wang, Tao Liu, Rui Jiang, Xuegong Zhang, Xiaowei Chen   +8 more
doaj   +1 more source