We report a case of Goldenhar syndrome in a six week old infant. This patient had bilateral peribulbar choristoma, bilateral pre-auricular appendix and left superior palpebral coloboma with severe exposure keratitis. This condition necessitated an emergency surgical eyelid repair. The authors discuss the different clinical manifestations of this syndrome and therapeutic modalities, particularly the surgical treatment of choristoma and palpebral coloboma.
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Molecular 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 PDFPeriorbital Outcomes and Vision Risk Stratification in Treacher Collins Syndrome.
Plast Reconstr Surg
May 2024
Division of Plastic, Reconstructive, and Oral Surgery, Children's Hospital of Philadelphia, Philadelphia, PA.
Article Synopsis
- The study focused on ophthalmologic outcomes and management strategies in children with Treacher Collins syndrome (TCS), analyzing data from 50 patients treated over 14 years.
- Results showed high prevalence of periorbital anomalies such as downslanting eyelids and eyelid colobomas, with 40% requiring multiple surgical procedures to address these issues.
- Despite these challenges, 90% of the subjects had good vision, leading to the recommendation for early ophthalmologist evaluations and intervention to prevent vision loss, using a proposed vision risk scale for better management.
Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2.
Mol Genet Genomic Med
April 2024
Department of Facial Plastic and Reconstructive Surgery, Eye & ENT Hospital of Fudan University, Shanghai, China.
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View Article and Find Full Text PDFA novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome.
BMC Med Genomics
March 2024
Department of Otorhinolaryngology, ENT Institute, Eye and ENT Hospital, Fudan University, Shanghai, China.
Background: Treacher Collins syndrome (TCS; OMIM 154500) is a craniofacial developmental disorder.
Methods: To investigate the genetic features of a four-generation Chinese family with TCS, clinical examinations, hearing tests, computed tomography, whole-exome sequencing (WES), Sanger sequencing, reverse transcription (RT)-PCR, and the Minigene assay were performed.
Results: The probands, an 11-year-old male and his cousin exhibited typical clinical manifestations of TCS including conductive hearing loss, downward slanting palpebral fissures, and mandibular hypoplasia.
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