Results 21 to 30 of about 2,486 (175)

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

open access: yesMolecular 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   +7 more
doaj   +1 more source

Hypertelorism-microtia-clefting syndrome in a 9-month-old child: A rare case report

open access: yesJournal of Oral Research and Review, 2022
Hypertelorism-microtia-clefting (HMC) syndrome is a very rare autosomal recessive disorder. HMC syndrome is malformation of orofacial region characterized by hypertelorism, microtia, and cleft lip and palate.
Supreet Shirolkar   +5 more
doaj   +1 more source

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   +1 more source

The role for cochlear implants in microtia and congenital aural atresia: A case report and a review of literature

open access: yesProceedings of Singapore Healthcare, 2023
Sensorineural hearing loss resulting from microtia and aural atresia is rare due to different embryologic origins of the external and inner ear. Consequently, cochlear implants are seldom performed in patients with microtia and/or aural atresia.
Wei Li Neo   +4 more
doaj   +1 more source

CT 3D Reformatting Technique to Aid Microtia Reconstruction Procedure Planning

open access: yesPhilippine Journal of Otolaryngology Head and Neck Surgery, 2013
This 8 year-old girl presented to a tertiary surgical centre with a history from birth of an absent left and a malformed right pinna, and associated bilateral hearing impairment.
Ian C. Bickle
doaj   +1 more source

Generation of an induced pluripotent stem cell line from a congenital microtia patient with 4p16.1 microduplication involving the long-range enhancer of HMX1

open access: yesStem Cell Research, 2021
Congenital microtia is a malformation of the middle and external ear. Duplications involving the ECR, an ear-specific long-range enhancer of HMX1, lead to ear malformation in different species.
Nuo Si   +5 more
doaj   +1 more source

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   +1 more source

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   +1 more source

Association of Ear Anomaly Type and Sex Concordance with Microtia Occurrence

open access: yesBiomolecular and Health Science Journal
Introduction: Microtia is a congenital malformation of the auricle that leads to serious functional and psychosocial consequences. Familial factors, such as the types of auricular anomalies present in family members and sex concordance between affected ...
Putri Putra Rimba   +6 more
doaj   +1 more source

A Case Report of Congenital Microtia-Atresia

open access: yesMajallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Qum, 2021
Background and Objectives: Microtia-atresia is a rare congenital anomaly, which characterized by a small, abnormally shaped auricle (microtia) accompanied with narrow, blocked or absent ear canal (atresia). Microtia can occur appear either as independent
Marzieh Alipour, Khalil Khashei
doaj  

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