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Clinical presentation of hemifacial microsomia in a South African population.
J Plast Surg Hand Surg
January 2025
Discipline of Clinical Anatomy, School of Laboratory Medicine and Medical Sciences, Westville Campus University of KwaZulu-Natal, Durban, South
Background: Hemifacial microsomia (HFM) presentation includes gross distorted ramus, malposition temporomandibular joint, small glenoid fossa, distorted condyle and notch, malformed orbit, cupping ear or absent external ear, and facial nerve palsy. HFM is the second most prevalent congenital deformity of the face, with little literature from the South African population. This retrospective study elucidated the demographic characteristics and clinical presentations of HFM patients in a select South African population and compared it to the literature.
View Article and Find Full Text PDFCervical 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.
Evaluation of Situs Inversus Combined With Plastic Surgery-Related Malformations in a Chinese Clinic Population.
Ann Plast Surg
February 2025
Department of Medical Laboratory.
Background: Situs inversus is a congenital malformation that occurs in one or multiple organs simultaneously and can be accompanied by malformations in other body parts. We analyzed the prevalence and phenotype of patients with situs inversus and comorbidities associated with other plastic surgery-related malformations to enhance the knowledge of its related disorders and facilitate treatment.
Methods: We recruited patients with situs inversus who were seen at our institution from February 2015 to July 2023.
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.
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