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The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients.
Eur J Hum Genet
July 2024
Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Carpenter syndrome (CRPTS) is a rare autosomal recessive condition caused by biallelic variants in genes that encode negative regulators of hedgehog signalling (RAB23 [CRPT1] or, more rarely, MEGF8 [CRPT2]), and is characterised by craniosynostosis, polysyndactyly, and other congenital abnormalities. We describe a further six families comprising eight individuals with MEGF8-associated CRPT2, increasing the total number of reported cases to fifteen, and refine the phenotype of CRPT2 compared to CRPT1. The core features of craniosynostosis, polysyndactyly and (in males) cryptorchidism are almost universal in both CRPT1 and CRPT2.
View Article and Find Full Text PDFThe influence of orbital architecture on strabismus in craniosynostosis.
J AAPOS
February 2024
Division of Pediatric Ophthalmology and Strabismus, Department of Ophthalmology, Shiley Eye Institute, University of California San Diego, La Jolla, California. Electronic address:
Purpose: To better characterize the correlation of bony orbital dysmorphology with strabismus in craniosynostosis.
Methods: The medical records of patients with craniosynostosis with and without strabismus seen at Rady Children's Hospital (San Diego, CA) from March 2020 to January 2022 were reviewed retrospectively in this masked, case-control study. Computed tomography scans of the orbits were analyzed to obtain dimensions of the orbital entrance and orbital cone.
Molecular Scalpels: The Future of Pediatric Craniofacial Surgery?
Plast Reconstr Surg
August 2023
From the Hansjörg Wyss Department of Plastic Surgery, New York University Langone Medical Center.
CRISPR-Cas genome editing tools are among the most substantial advances in the life sciences in modern history. Single-dose gene therapies to correct pathogenic mutations have moved quickly from bench to bedside, with several therapeutics designed by CRISPR pioneers entering various stages of clinical investigation. Applications of these genetic technologies are poised to reshape the practice of both medicine and surgery.
View Article and Find Full Text PDFApert Syndrome Type III Hand: Prevalence and Outcomes.
J Craniofac Surg
June 2023
Institute of Plastic and Craniofacial Surgery, SOBRAPAR Hospital, Campinas.
Background: The Upton type III hand, which represents the most severe hand type among Apert syndrome patients, has been considered the least prevalent hand type. The objective of this study is to address type III Apert hand prevalence and describe treatment strategies that will result in a 5 digit hand.
Methods: The authors retrospectively reviewed 15 years of Apert syndrome hand practice at our hospital.
Conclusion of diagnostic odysseys due to inversions disrupting and .
J Med Genet
May 2023
Wellcome Centre for Human Genetics, University of Oxford, Oxford, Oxfordshire, UK.
Many genetic testing methodologies are biased towards picking up structural variants (SVs) that alter copy number. Copy-neutral rearrangements such as inversions are therefore likely to suffer from underascertainment. In this study, manual review prompted by a virtual multidisciplinary team meeting and subsequent bioinformatic prioritisation of data from the 100K Genomes Project was performed across 43 genes linked to well-characterised skeletal disorders.
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