Results 21 to 30 of about 261,157 (200)

Genotype-phenotype associations in microtia: a systematic review [PDF]

Orphanet Journal of Rare Diseases
Background Microtia is a congenital ear malformation that can occur as isolated microtia or as part of a syndrome. The etiology is currently poorly understood, although there is strong evidence that genetics has a role in the occurrence of microtia. This
Siti Isya Wahdini, Fina Idamatussilmi, Rachmaniar Pramanasari, Almas Nur Prawoto, Citrawati Dyah Kencono Wungu, Indri Lakhsmi Putri, Gunadi   +6 more
doaj   +2 more sources

Epidemiological Characteristics and Maternal Risk Factors of Microtia and Aural Atresia in Kazakhstan

International Archives of Otorhinolaryngology
Introduction Microtia and aural atresia present congenital ear anomalies that affect external ear and are associated with conductive hearing loss.
Assel Imangaliyeva, Rimma Suatbayeva, Tatyana Slazhneva, Aigul Medeulova, Zhanetta Mukanova, Amangeldy Kulimbetov, Neilya Mileshina, Natalya Glushkova, Marina Izmailovich, Yuliya Semenova   +9 more
doaj   +2 more sources

Systematic Review on Microtia: Current Knowledge and Future Directions

Children
Background: Microtia is a congenital outer ear deformity that causes the auricle to be absent or underdeveloped. It is frequently associated with external auditory canal atresia and causes hearing and psychosocial problems.
Filippo Hellies, Silvia Fracaro, Gino Marioni, Annalisa Trotta, Martina Todesco, Martina Casarin, Andrea Bagno, Elisabetta Zanoletti, Giovanna Albertin, Laura Astolfi   +9 more
doaj   +2 more sources

Vibrant Soundbridge and Porous Polyethylene Auricular Reconstruction in a Single‑Stage Procedure [PDF]

Science Progress
Microtia with aural atresia presents a dual challenge—restoration of external ear anatomy and rehabilitation of conductive hearing loss. Multiple staged procedures are often required, increasing patient burden. This study presents a single-stage surgical
Tawfiq Khurayzi, Haitham Abdalla, Khalid Ardi   +2 more
doaj   +2 more sources

MicrotiaGPT: Appraisal of Microtia Care Recommendations From an Artificially Intelligent Chatbot. [PDF]

Laryngoscope Investig Otolaryngol
ABSTRACT Objective Evaluate the accuracy, comprehensiveness, and similarity to provider response of ChatGPT‐4o in providing patient education regarding microtia and aural atresia management. Methods Ten standardized inquiries were created across three domains (General Information, Hearing/Anatomy, Treatment Decision‐Making) and entered into ChatGPT‐4o.
Ayo-Ajibola O, Park S, Osterbauer B, Kallemeyn K, Gomez G.   +4 more
europepmc   +2 more sources

Preferential associated anomalies in 818 cases of microtia in South America [PDF]

, 2020
The etiology of microtia remains unknown in most cases. The identification of patterns of associated anomalies (i.e., other anomalies that occur with a given congenital anomaly in a higher than expected frequency), is a methodology that has been used for
Luquetti, Daniela V., Castilla, Eduardo Enrique, Dutra, Maria da Graça, López Camelo, Jorge Santiago, Cox, Timothy C., Cunningham, Michael L.   +5 more
core   +3 more sources

Development of an interdisciplinary microtia‐atresia care model: A single‐center 20‐year experience

Laryngoscope Investigative Otolaryngology, 2022
Objectives Microtia and aural atresia are congenital ear anomalies with a wide‐ranging spectrum of phenotypes and varied functional and psychosocial consequences for patients. This study seeks to analyze the management of microtia‐atresia patients at our
Krupa R. Patel, Liliya Benchetrit, Evette A. Ronner, Jessica Occhiogrosso, Tessa Hadlock, David Shaye, Alicia M. Quesnel, Michael S. Cohen   +7 more
doaj   +1 more source

Cephalometric Assessment in Nonsyndromic Microtia Patients: Cross-Sectional Study with Comparison Group. [PDF]

Spec Care Dentist
ABSTRACT Aims To assess and compare the cephalometric characteristics of patients with nonsyndromic microtia. Methods and Results This cross‐sectional comparative study evaluated the cephalometric characteristics of 16 patients with nonsyndromic microtia and 48 patients without microtia (n = 48).
Peixoto CR, Olsson B, Weiss SG, Caleme E, Topolski F, Scariot R, Moro A.   +6 more
europepmc   +2 more sources

Management of Congenital Aural Atresia and Microtia

Korean Journal of Otorhinolaryngology-Head and Neck Surgery, 2023
Microtia is commonly associated with aural atresia, which will cause cosmetic problems as well as hearing impairment. The management of microtia and aural atresia should improve the aesthetic of the external ear and enhance functional hearing. The reconstruction of the auricle can be performed with autologous rib cartilage or a porous polyethylene ...
Gi-Sung Nam, Sung Il Cho
openaire   +1 more source

Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease-Causing Variants in TCOF1 and POLR1D. [PDF]

Mol Genet Genomic Med
Targeted next‐generation sequencing of South African patients with suspected Treacher Collins syndrome identified pathogenic variants in six cases, including multiple novel TCOF1 and POLR1D variants. These findings expand the African mutational spectrum and support panel‐based testing to improve diagnosis and genetic counselling in resource‐limited ...
Nevondwe P, Mudau M, Seymour H, Kerr R, Lombard Z, Krause A, Carstens N.   +6 more
europepmc   +2 more sources