Results 61 to 70 of about 261,157 (200)

Novel TCOF1 Frameshift Variant and Phenotypic Heterogeneity in a Chinese Family With Treacher Collins Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
Using whole‐exome sequencing, we identified a novel TCOF1 frameshift variant (c.1601_1602delCC, p.Pro534Leufs*15) in a Chinese family with Treacher Collins syndrome. The variant produces a severely truncated Treacle protein lacking key functional domains.
Feiyang Fan, Ying Chen, Tianyu Zhang, Jing Ma   +3 more
wiley   +1 more source

Electrocardiographic abnormalities in patients with microtia

Scientific Reports
The main objective of this study was to investigate the incidence and characteristics of electrocardiographic abnormalities in patients with microtia, and to explore cardiac maldevelopment associated with microtia.
Yang Yang, Xiaoying Tian, Pengfei Sun, Xiaoli Zhao, Jintian Hu, Bo Pan   +5 more
doaj   +1 more source

Surgical Microtia Reconstruction in Hemifacial Microsomia Patients: Current State and Future Directions

Plastic and Reconstructive Surgery, Global Open, 2022
Background:. Hemifacial microsomia (HFM) is one of the most common congenital craniofacial disorders. Among many other features, microtia is present in the large majority of these patients.
Gabriel Bouhadana, MD, Jordan Gornitsky, MD, Eli Saleh, MD, MSc, Daniel E. Borsuk, MD, MBA, FRCSC, Sabrina Cugno, MD, MSc, FRCSC   +4 more
doaj   +1 more source

Short‐Term Complications Are Rare After Cholesteatoma Surgery

Clinical Otolaryngology, Volume 51, Issue 5, Page 660-665, September 2026.
ABSTRACT Objective To evaluate the incidence and nature of short‐term complications following cholesteatoma surgery in a heterogeneous cohort. Design A retrospective cohort study including complete coverage of cholesteatoma surgery in a Swedish region between 1 January 2005 and 31 December 2015.
Agnes Modée Borgström, Cecilia Engmér Berglin, Johan Knutsson, Åsa Bonnard   +3 more
wiley   +1 more source

Prise en charge de la microtie chez l’enfant [Management of microtia in children]

, 2022
Microtia is a malformation of the external ear with a prevalence of 1-17/10 000 births. It is mostly unilateral and is responsible for conductive hearing loss. It is present in some congenital syndromes but is most frequently isolated.
Liu, M., Fries, S.
core   +1 more source

Thai Transplant Care Practice Guideline on Immunosuppressive Therapy for Adult Kidney Transplantation

Nephrology, Volume 31, Issue S2, September 2026.
ABSTRACT The Thai Transplantation Society developed these clinical practice guidelines to establish a comprehensive standard for immunosuppressive therapy in adult kidney transplantation. While rooted in evidence‐based medicine, the objective of this document extends beyond local application, serving as a practical model for low‐to‐middle‐income ...
Suwasin Udomkarnjananun, Napun Sutharattanapong, Nuttasith Larpparisuth, Korntip Phonphok, Tanun Ngamvichchukorn, Peenida Skulratanasak, Pitchamon Inkong, Suwikran Wongpraphairot, Opas Traitanon, Piyavadee Homkrailas, Kajohnsak Noppakun, Natavudh Townamchai, on behalf of Thai Transplantation Society   +12 more
wiley   +1 more source

Prevalence of microtia and anotia at the Maternity of the University of Chile Clinical Hospital Prevalencia de nacimiento de microtia-anotia. Maternidad del Hospital Clínico de la Universidad de Chile, período 1983-2005 [PDF]

, 2006
Background: Microtia is a congenital defect characterized by disturbances in the size and form of the ear lobe. Anotia corresponds to the absence of the ear lobe.
Lucía Cifuentes, O., Guillermo Lay-Son, R., Julio Nazer, H.   +2 more
core  

Evaluation of a Facial Dysmorphology Analysis Algorithm (Face2Gene) in Identifying Treacher Collins Syndrome Amongst Diverse Population

Orthodontics &Craniofacial Research, Volume 29, Issue 4, Page 680-687, August 2026.
ABSTRACT Background Treacher Collins Syndrome (TCS) is an uncommon congenital disease of the craniofacial complex. While there are ‘classic’ facial manifestations of TCS, they present with a wide range of variability. Face2Gene (F2G) is a deep‐learning algorithm that can provide differential diagnoses of syndromes via analysis of 2‐dimensional facial ...
Jie Han Timothy Sng, Jonas Jun Jie Hue, Josep Rubio‐Palau   +2 more
wiley   +1 more source

Table_1_Experience in prenatal ultrasound diagnosis of fetal microtia and associated abnormalities.docx

, 2023
ObjectivePrenatal ultrasound features, associated anomalies and genetic abnormalities of microtia cases were analyzed to explore the feasibility and value of prenatal ultrasound for the diagnosis of microtia.MethodsThe ultrasonographic features ...
Yanhui Ru (16523823), Jing Qiu, Jie Shen, Jing Qiu (273902), Yang Gao, Jie Shen (31533), Yang Gao (18005), Yanhui Ru   +7 more
core   +1 more source

Dental Management of a 9‐Year‐Old Child With Suspected CHARGE Syndrome: A Case Report and Brief Literature Review

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Early recognition of syndromic features by dental professionals can lead to timely diagnosis and intervention, especially when systemic anomalies have been overlooked. Preventive and individualized dental management, supported by behavioral guidance, can achieve long‐term stability even in medically complex patients, including those with ...
Nazanin Nasr, Ariana Golabbakhsh, Nayereh Ahmadi, Razie Jahadakbar, Nosrat Nourbakhsh   +4 more
wiley   +1 more source