Results 31 to 40 of about 261,157 (200)

Occurrence of Different External Ear Deformities in Monozygotic Twins: Report of 2 Cases

Plastic and Reconstructive Surgery, Global Open, 2014
Summary: Microtia is a spectrum of congenital deformities, which varies from barely discernable to anotia. Twinning is a well-known risk factor for congenital defects including external ear deformities.
Jin-Tian Hu, MD, Tun Liu, MD, Jin Qian, MD, Yong-Biao Zhang, PhD, Xu Zhou, MD, Qing-Guo Zhang, MD   +5 more
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

De novo 22q11.2 deletions and auricular findings in two Chinese patients with microtia

Molecular Genetics & Genomic Medicine, 2022
Background Congenital microtia is a common craniofacial malformation resulting from both environmental and genetic factors. Recurrent chromosomal imbalances were observed in patients with microtia.
Nuo Si, Zeya Zhang, Xin Huang, Chanchen Wang, Peipei Guo, Bo Pan, Haiyue Jiang   +6 more
doaj   +1 more source

Artificial intelligence for assessing the severity of microtia via deep convolutional neural networks

Frontiers in Surgery, 2022
BackgroundMicrotia is a congenital abnormality varying from slightly structural abnormalities to the complete absence of the external ear. However, there is no gold standard for assessing the severity of microtia.ObjectivesThe purpose of this study was ...
Dawei Wang, Xue Chen, Yiping Wu, Hongbo Tang, Pei Deng   +4 more
doaj   +1 more source

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

Journal 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, Rajib Sikdar, Khooshbu Gayen, Anisha Bag, Santanu Mukhopadhyay, Subir Sarkar   +5 more
doaj   +1 more source

The role of genetic factors in microtia: A systematic review [PDF]

, 2022
Background: Microtia is a congenital malformation of the outer ears caused by improper embryonic development. The origin of microtia and causes of its variations remain unknown.
Rachmaniar Pramanasari, -, Alexandria Stephanie, -, Indri Lakhsmi Putri, Indri, Moshe Kon, -, Citrawati Dyah Kencono Wungu, -, Indri Lakhsmi Putri, -   +5 more
core   +1 more source

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

Molecular 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, Xiaosheng Lu, Ye Zhang, Changchen Wang, Zhen Cai, Zhengyong Li, Bo Pan, Haiyue Jiang   +7 more
doaj   +1 more source

Cat Eye Syndrome in a Sudanese Infant: Congenital Cataract in the Absence of Iris Coloboma: A Case Report. [PDF]

Clin Case Rep
ABSTRACT We report the first Cat Eye Syndrome case from Sudan: a 5‐month‐old female with growth retardation, craniofacial dysmorphism, congenital cataract without iris coloboma, and ventricular septal defect. Cytogenetics confirmed 47,XX,+idic(22)(q11.2).
Khalid R, Fadl-Elmula I.
europepmc   +2 more sources

Functional and esthetic reconstruction of microtia and congenital aural atresia: a case report

, 2021
Reconstruction of microtia and congenital aural atresia is a challenging surgery that requires experience and thorough knowledge. The goals of auricular reconstruction and atresiaplasty are to improve the cosmetic appearance and rehabilitate the acoustic
Sung Il Cho, Ji Yun Choi
core   +1 more source

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

Proceedings 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, Barrie Yau Boon Tan, Adam Ping Meng Tan, Olivia May Ling Wee, Jiun Fong Thong   +4 more
doaj   +1 more source