Results 41 to 50 of about 4,707 (196)

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

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

Aural Microtia and Atresia [PDF]

, 2016
Outline of presentation: Microtia Introduction Classification schemes Clinical evaluation Physiologic/Psychological Impact Reconstruction Atresia Introduction Classification schemes Reconstruction Conclusion PowerPoint slides located below ...
McKee-Cole, MD, Katie
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

Machine Learning‐Based Risk Stratification Tool for Hearing Loss in High‐Risk Neonates

The Laryngoscope, EarlyView.
Machine learning models, particularly XGBoost, provide robust risk stratification for neonatal hearing loss by capturing complex interactions among clinical risk factors such as NICU stay duration and family history. To translate these predictive capabilities into routine practice, an open‐access web‐based clinical decision support tool was developed ...
Sevgi Kutlu, Emre Söylemez, Betül Temir, Esranur Ulusoy, Zahide Çiler Büyükatalay   +4 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

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

Sex Differences in Congenital Aural Atresia: A Systematic Review and Meta‐Analysis

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To evaluate sex differences in the diagnosis and management of congenital aural atresia (CAA). Data Sources PubMed, SCOPUS, CINAHL, Cochrane Library. Review Methods A comprehensive literature search was conducted from inception through January 2026.
Angelica M. Walker, Pranav A. Patel, Shaun A. Nguyen, Clarice S. Clemmens, David R. White   +4 more
wiley   +1 more source

THREE-DIMENSIONAL PRINTING AS A POTENTIALLY EFFECTIVE STRATEGY FOR IMPROVING THE OUTCOMES IN MICROTIA RECONSTRUCTION

Egyptian Journal of Plastic and Reconstructive Surgery, 2021
:Aim: The reconstruction of microtia cases is a challenging topic and Auricular reconstruction is a unique area of facial plastic surgery where a wide array of reconstructive options often must be considered.
Omar El-Bayoumi, Ahmed Bahaa Eldin, Fayez Mahmoud, Ahmed Zeina, mostafa Abdelhalim   +4 more
doaj   +1 more source

Microtia: Epidemiology and genetics [PDF]

American Journal of Medical Genetics Part A, 2011
AbstractMicrotia is a congenital anomaly of the ear that ranges in severity from mild structural abnormalities to complete absence of the ear, and can occur as an isolated birth defect or as part of a spectrum of anomalies or a syndrome. Microtia is often associated with hearing loss and patients typically require treatment for hearing impairment and ...
Daniela V, Luquetti, Carrie L, Heike, Anne V, Hing, Michael L, Cunningham, Timothy C, Cox   +4 more
openaire   +2 more sources