نتایج جستجو برای: microtia

تعداد نتایج: 373  

Journal: :Archives of otolaryngology--head & neck surgery 2005
Shin-Ichi Ishimoto Ken Ito Tatsuya Yamasoba Kenji Kondo Shotaro Karino Hideki Takegoshi Kimitaka Kaga

OBJECTIVE To evaluate the relationships between temporal bone abnormalities and the severity of microtia in Japanese patients using objective grading systems. DESIGN Retrospective case series study conducted between 1992 and 2003. SETTING Academic, tertiary care, referral medical center. PATIENTS One hundred forty-two ears of 109 Japanese patients (85 male and 24 female patients; mean age...

Journal: :Birth defects research. Part A, Clinical and molecular teratology 2009
Mark A Canfield Peter H Langlois Ly M Nguyen Angela E Scheuerle

BACKGROUND Few studies have investigated the epidemiologic features of clinically defined subgroups of anotia/microtia. METHODS Data on cases of anotia and/or microtia among 1999-2005 deliveries were obtained from the Texas Birth Defects Registry, a population-based active surveillance system. We determined crude and adjusted associations between selected factors and seven clinical subgroups ...

Journal: :Journal of medical genetics 2009
F Alasti G Van Camp

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. The estimated prevalence of microtia is 0.8-4.2 per 10 000 births, and it is more common in men. Microtia can have a genetic or environmental predisposition...

2017
Pu Wang Xinmiao Fan Yibei Wang Yue Fan Yaping Liu Shuyang Zhang Xiaowei Chen

Microtia is a congenital malformation of the external ear caused by genetic and/or environmental factors. However, no causal genetic mutations have been identified in isolated microtia patients. In this study, we utilized targeted genomic capturing combined with next-generation sequencing to screen for mutations in 307 deafness genes in 32 microtia patients. Forty-two rare heterozygous mutation...

2015
Ruimin Qiao Yuyong He Bo Pan Shijun Xiao Xufei Zhang Jing Li Zhiyan Zhang Yuan Hong Yuyun Xing

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. Pigs have naturally occurring diseases comparable to those in humans, providing exceptional opportunity to dissect the molecular mechanism of human inherited diseases. Here we first demonst...

2015
Ruimin Qiao Yuyong He Bo Pan Shijun Xiao Xufei Zhang Jing Li Zhiyan Zhang Yuan Hong Yuyun Xing Jun Ren

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. Pigs have naturally occurring diseases comparable to those in humans, providing exceptional opportunity to dissect the molecular mechanism of human inherited diseases. Here we first demonst...

Journal: :International journal of pediatric otorhinolaryngology 2013
Joseph B Roberson Hernan Goldsztein Ashley Balaker Stephen A Schendel John F Reinisch

OBJECTIVE Describe anatomical and radiological findings in 742 patients evaluated for congenital aural atresia and microtia by a multidisciplinary team. Develop a new classification method to enhance multidisciplinary communication regarding patients with congenital aural atresia and microtia. METHODS Retrospective chart review with descriptive analysis of findings arising from the evaluation...

2014
Xin Li Jintian Hu Jiao Zhang Qian Jin Duen-Mei Wang Jun Yu Qingguo Zhang Yong-Biao Zhang

Microtia is a congenital deformity where the external ear is underdeveloped. Genetic investigations have identified many susceptibility genes of microtia-related syndromes. However, no causal genes were reported for isolated microtia, the main form of microtia. We conducted a genome-wide linkage analysis on a 5-generation Chinese pedigree with isolated bilateral microtia. We identified a sugges...

2016
Farrah-Hani Imran Chong Kong Yong Srijit Das Yap Lok Huei

Superficial temporal artery (STA) based pedicled fascial flap plays a pivotal role in ear reconstruction for microtia patients. There is paucity of literature on the anatomy of the STA in microtia patients. The present study aimed to describe any possible anatomical variations seen in the STA of patients afflicted with microtia. Pre-operative carotid computer tomographic angiography images of p...

2016
Madhavan Unny

Absence of external auditory ear canal, or aural atresia is not a common condition in goats. The present study reports on a rare case of aural atresia with microtia in a kid. Genetic attributes have been made to microtia. Absence of external auditory ear canal with microtia in the present case is congenital as it was seen from birth.

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