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Cervical spine considerations in Goldenhar syndrome: a clinical perspective.
Childs Nerv Syst
December 2024
NJ Craniofacial Center, Morristown, NJ, 07960, USA.
Background: Goldenhar syndrome is a clinically heterogeneous disorder defined by a rare combination of congenital anomalies-an eye abnormality, in addition to two of the following three: ear anomalies, mandibular malformations, and vertebral defects. Notably, children with Goldenhar syndrome present with a high incidence of cervical spine malformations.
Clinical Case: In this report, we present an unusual case of a 15-year-old child with Goldenhar syndrome, who additionally presents with some clinical features of VACTERL syndrome.
Imaging of Treacher Collins syndrome: A case report.
Radiol Case Rep
January 2025
Department of Internal Medicine, NAIHS, Kathmandu, Nepal.
Treacher Collins syndrome, also known as mandibulofacial dysostosis, is a rare congenital disorder affecting craniofacial development. It is caused by an autosomal dominant mutation, primarily in the TCOF1 gene, which impacts the development of the first and second branchial arches. We present the case of a 12-year-old male with bilateral conductive hearing loss and deformed ears, whose clinical and imaging findings were consistent with Treacher Collins syndrome.
View Article and Find Full Text PDFMolecular and Clinical Heterogeneity in Hungarian Patients with Treacher Collins Syndrome-Identification of Two Novel Mutations by Next-Generation Sequencing.
Int J Mol Sci
October 2024
Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, 7624 Pécs, Hungary.
Treacher Collins syndrome (TCS) is a rare congenital craniofacial disorder with variable penetrance and high genetic and phenotypic heterogeneity. It is caused by pathogenic variants in the , , and genes, and its major characteristic features are malar and mandibular hypoplasia, downward slanting of the palpebral fissures, and conductive hearing loss. In this study, five patients (two males and three females, age range from 2 to 29 years) with TCS were tested by Next-Generation Sequencing (NGS)-based sequencing and clinically characterized.
View Article and Find Full Text PDFMost common congenital syndromes with facial asymmetry: A narrative review.
Dent Med Probl
December 2024
Department of Oral Pathology, Wroclaw Medical University, Poland.
Symmetry is present in various aspects of everyday life. A symmetrical face is considered attractive, whereas a lack of facial symmetry is regarded as a source of functional and aesthetic problems. Most of the people exhibit slight asymmetries, but some of them reveal severe asymmetries.
View Article and Find Full Text PDFManaging Limbal Dermoids in Patients with Goldenhar Syndrome: A Case Series.
Rom J Ophthalmol
October 2024
ENT Department, Military Hospital, Jammu, J&K, India.
Objective: To investigate the clinical characteristics, associated systemic features, and management outcomes of patients with limbal dermoids diagnosed with Goldenhar syndrome.
Methods: This case series included patients from the eye outpatient department, diagnosed with Goldenhar syndrome based on systemic evaluation. Demographic data, ophthalmological assessments, and systemic evaluations were recorded.
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