Results 41 to 50 of about 3,288 (169)

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

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

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

Dental Management of a 9‐Year‐Old Child With Suspected CHARGE Syndrome: A Case Report and Brief Literature Review

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Early recognition of syndromic features by dental professionals can lead to timely diagnosis and intervention, especially when systemic anomalies have been overlooked. Preventive and individualized dental management, supported by behavioral guidance, can achieve long‐term stability even in medically complex patients, including those with ...
Nazanin Nasr, Ariana Golabbakhsh, Nayereh Ahmadi, Razie Jahadakbar, Nosrat Nourbakhsh   +4 more
wiley   +1 more source

Single-Cell RNA sequencing reveals mitochondrial dysfunction in microtia chondrocytes

Scientific Reports
Microtia is a congenital malformation characterized by underdevelopment of the external ear. While chondrocyte dysfunction has been implicated in microtia, the specific cellular abnormalities remain poorly understood.
Xinyu Li, Datao Li, Ruhong Zhang
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

Current Evidence of the Effect of Breastfeeding on Ear Molding Outcomes: A Scoping Review

The Laryngoscope, Volume 136, Issue 7, Page 2868-2875, July 2026.
ABSTRACT Objective To provide an overview on auricular molding and to investigate whether breastfeeding is associated with greater cartilage malleability or improved perinatal auricular molding outcomes. Data Sources Embase, MEDLINE, and CENTRAL databases.
Harry Chiang, Samuel R. Shing, Peggy Su‐Genyk, Lilun Li, Kelvin Kwong, Joseph B. Vella   +5 more
wiley   +1 more source

HRCT evaluation of microtia: A retrospective study

Indian Journal of Radiology and Imaging, 2012
Purpose: To determine external, middle, and inner ear abnormalities on high-resolution computed tomography (HRCT) of temporal bone in patients with microtia and to predict anatomic external and middle ear anomalies as well as the degree of functional ...
Aruna R Patil, Ashu Bhalla, Pankaj Gupta, Deepali Goyal, Sreenivas Vishnubhatla, Anurag Ramavat, Suresh Sharma   +6 more
doaj   +1 more source

From Expectations to Experience: A Comparison of Program Director Priorities to Resident Case Logs

The Laryngoscope, Volume 136, Issue 7, Page 2954-2962, July 2026.
The present study identified 47 essential otolaryngology procedures via program director surveys and evaluated the extent of resident participation in these cases through ACGME case logs. Results revealed significant variability in surgical experience, with nearly half of these essential procedures being logged fewer than 10 times during residency ...
Taylor S. Erickson, Yoon Soo Park, Sean Hogan, Sophie Yu, Steven D. Pletcher, Sonya Malekzadeh, Stacey T. Gray, Jenny X. Chen   +7 more
wiley   +1 more source

Prenatal Diagnosis of a Fetus With Congenital Malformations Caused by Compound Heterozygous Mutations in FANCA: A Case Report and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
This study identified novel compound heterozygous mutations in the FANCA gene that underlie fetal limb‐kidney malformations. Through systematic reviews, we explore the relationship between FANC genotypes and malformation phenotypes, emphasizing the importance of considering Fanconi anemia in the prenatal diagnosis of structural abnormalities to ...
Zedong Yang, Yuchen Ma, Ju Wang, Jiangbo Qu, Shihua Cui, Dongyi Yu   +5 more
wiley   +1 more source