Results 11 to 20 of about 261,157 (200)

Severe Unilateral Microtia with Aural Atresia, Hair White Patch, Stereotypes in a Young Boy with De novo 16p13.11 Deletion: Reasons for a New Genotype–Phenotype Correlation

open access: yesGlobal Medical Genetics, 2023
Background Microtia is an uncommon congenital malformation ranging from mild anatomic structural abnormalities to partial or complete absence of the ear leading to hearing impairment.
Piero Pavone   +7 more
doaj   +3 more sources

A simple ear splint for microtia patients

open access: yesIndian Journal of Dental Research, 2015
Microtia is a congenital anomaly of the ear can occur as an isolated birth defect or as part of a spectrum of anomalies or as a syndrome. Microtia is often associated with impaired hearing and or total loss of hearing.
C J Venkata Krishnan   +2 more
doaj   +2 more sources

Experience in prenatal ultrasound diagnosis of fetal microtia and associated abnormalities [PDF]

open access: yesFrontiers in Medicine, 2023
ObjectivePrenatal ultrasound features, associated anomalies and genetic abnormalities of microtia cases were analyzed to explore the feasibility and value of prenatal ultrasound for the diagnosis of microtia.MethodsThe ultrasonographic features ...
Jing Qiu   +7 more
doaj   +2 more sources

Distribution of multiple congenital abnormalities including anotia and microtia [PDF]

open access: yesOrvosi Hetilap, 2011
To evaluate cases with unclassified multiple congenital abnormalities including microtia and anotia as component congenital abnormalities in order to reveal the characteristic pattern of other associated component congenital abnormalities and to make an attempt to establish a registry diagnosis on the pattern of associated congenital abnormalities and
László, Paput   +2 more
openaire   +4 more sources

Characterization of Distinct Chondrogenic Cell Populations of Patients Suffering from Microtia Using Single-Cell Micro-Raman Spectroscopy [PDF]

open access: yesBiomedicines, 2023
Microtia is a congenital condition of abnormal development of the outer ear. Tissue engineering of the ear is an alternative treatment option for microtia patients.
Dominika Zielinska   +10 more
doaj   +3 more sources

Understanding the molecular mechanisms of human microtia via a pig model of HOXA1 syndrome

open access: yesDisease Models & Mechanisms, 2015
Microtia is a congenital malformation of the outer ears. Although both genetic and environmental components have been implicated in microtia, the genetic causes of this innate disorder are poorly understood.
Ruimin Qiao   +9 more
doaj   +2 more sources

Genome-wide linkage study suggests a susceptibility locus for isolated bilateral microtia on 4p15.32-4p16.2.

open access: yesPLoS ONE, 2014
Microtia is a congenital deformity where the external ear is underdeveloped. Genetic investigations have identified many susceptibility genes of microtia-related syndromes.
Xin Li   +7 more
doaj   +2 more sources

Single-Cell RNA sequencing reveals mitochondrial dysfunction in microtia chondrocytes

open access: yesScientific 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   +2 more sources

Johnson-McMillin microtia syndrome: New additional family

open access: yesJournal of Family Medicine and Primary Care, 2014
Microtia is a congenital anomaly that is found with different prevalence among various populations. The exact etiology of ear anomalies is still unknown.
Nagwa Abdel-Meguid   +4 more
doaj   +2 more sources

HRCT evaluation of microtia: A retrospective study

open access: yesIndian 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   +6 more
doaj   +2 more sources

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