Genetic advances in the understanding of microtia

C Gendron, A Schwentker… - Journal of pediatric …, 2016 - thieme-connect.com
Microtia is a genetic condition affecting the external ears and presents clinically along a
wide spectrum: minimally affected ears are small with minor shape abnormalities; extremely …

Microtia: epidemiology and genetics

DV Luquetti, CL Heike, AV Hing… - American Journal of …, 2012 - Wiley Online Library
Microtia 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 …

Genetics of microtia and associated syndromes

F Alasti, G Van Camp - Journal of medical genetics, 2009 - jmg.bmj.com
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 …

The role of genetic factors in microtia: A systematic review

IL Putri, A Stephanie, R Pramanasari, M Kon… - …, 2023 - f1000research.com
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 …

Interrater reliability of a phenotypic assessment tool for the ear morphology in microtia

DV Luquetti, BS Saltzman, KC Sie… - American Journal of …, 2013 - Wiley Online Library
Abstract The Elements of Morphology Standard Terminology working group published
standardized definitions for external ear morphology. The primary objective of our study was …

Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non‐syndromic microtia and distinctive ear morphology

F Piceci, S Morlino, M Castori, E Buffone… - Clinical …, 2017 - Wiley Online Library
Microtia is a congenital defect affecting external ears, which appear smaller and sometimes
malformed. Here we describe a five‐generation family with isolated bilateral microtia …

Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia

DC Monks, A Jahangir, AL Shanske, J Samanich… - International journal of …, 2010 - Elsevier
OBJECTIVE: Microtia is a developmental malformation of the external ear with genetic and
environmental causes. The prevalence of microtia varies but several studies suggest …

Congenital abnormalities associated with microtia: A 10-YEARS retrospective study

A Paul, S Achard, F Simon, N Garcelon… - International Journal of …, 2021 - Elsevier
Objective Microtia is a congenital auricular malformation, often part of a syndromic form
(35%–55% of cases). The accurate prevalence of associated malformations remains to be …

Autosomal dominant microtia

SC Elalaoui, IC Jaouad, L Rifai, A Sefiani - European Journal of Medical …, 2010 - Elsevier
Microtia (MIM600674) is a congenital malformation which occurs in 1/8000–10000 births. It
is characterized by a small, and abnormally shaped pinna. It ranges in severity from a bump …

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

X Li, J Hu, J Zhang, Q Jin, DM Wang, J Yu, Q Zhang… - PLoS …, 2014 - journals.plos.org
Microtia is a congenital deformity where the external ear is underdeveloped. Genetic
investigations have identified many susceptibility genes of microtia-related syndromes …