Results 31 to 40 of about 2,424 (159)

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

open access: yesOrthodontics &Craniofacial Research, EarlyView.
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   +2 more
wiley   +1 more source

First Case Report of Agnathia–Otocephaly Complex Reported in Niger

open access: yesClinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Agnathia–otocephaly complex (AOC) is an extremely rare congenital malformation resulting from a disorder of the first branchial arch. In the past, this condition was considered lethal. However, milder variants of the isolated type of AOC have been reported as non‐lethal.
Hamidou Soumana Diaouga   +3 more
wiley   +1 more source

Hearing rehabilitation in Treacher Collins Syndrome with bone anchored hearing aid

open access: yesRevista Paulista de Pediatria, 2015
Objective: To describe a case of hearing rehabilitation with bone anchored hearing aid in a patient with Treacher Collins syndrome. Case description: 3 years old patient, male, with Treacher Collins syndrome and severe complications due to the syndrome,
José Fernando Polanski   +2 more
doaj   +1 more source

Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early‐Onset Monogenic Disorders

open access: yesPrenatal Diagnosis, Volume 46, Issue 7, Page 1096-1103, June 2026.
ABSTRACT Objective To investigate the genetic etiologies and clinical significance of fetal tympanic ring abnormalities detected during second‐trimester ultrasound in the absence of microtia. Method Between November 2019 and June 2024, we examined the fetal tympanic rings of 10,277 unselected pregnant women during the 20–22 weeks of morphology ...
Yung Hang Lam   +5 more
wiley   +1 more source

Tissue Engineered Human Elastic Cartilage From Primary Auricular Chondrocytes for Ear Reconstruction

open access: yesAdvanced Functional Materials, Volume 36, Issue 36, 4 May 2026.
Despite over three decades of research, no tissue‐engineered solution for auricular reconstruction in microtia patients has reached clinical translation. The key challenge lies in generating functional elastic cartilage ex vivo. Here, we integrate synergistic cell‐biomaterial strategies to engineer auricular grafts with mechanical and histological ...
Philipp Fisch   +13 more
wiley   +1 more source

Clinical spectrum of Treacher Collins syndrome

open access: yesJournal of Oral Biology and Craniofacial Research, 2011
: Treacher Collins syndrome (TCS) is the most common of the human mandibulofacial dysostosis disorders. It is an autosomal-dominant disorder of the craniofacial development occurring between the fifth and the eighth weeks of embryonic development with an
Divya Mehrotra   +3 more
doaj   +1 more source

3D‐Printed High‐Fidelity Pediatric Mannequin for Rigid and Flexible Bronchoscopy Training on Difficult Airways

open access: yesEngineering Reports, Volume 8, Issue 5, May 2026.
The article describes the design and manufacturing process of a novel pediatric high‐fidelity pathological mannequin for clinical training on unanticipated difficult airway management using rigid and flexible bronchoscopy. The mannequin has been developed from the CT scans of a 19‐month‐old polysyndromic patient (Crouzon Syndrome), thanks to the ...
Marta Mencarelli   +5 more
wiley   +1 more source

A Case Report of a Child with Treacher Collins Syndrome Posted for Craniofacial Reconstruction [PDF]

open access: yesThe Indian Anaesthetists' Forum, 2010
We describe anaesthesia in a child suffering from Treacher Collins Syndrome (TCS) posted for craniofacial reconstruction by mandibular distraction with external ...
Snehalata Dhayagude   +2 more
doaj  

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

open access: yesPrenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa   +7 more
wiley   +1 more source

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