Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias.
Pediatr Radiol
January 2025
Department of Pediatric Genetics, Istanbul University-Cerrahpaşa, Cerrahpasa Medical Faculty, 34098, Cerrahpasa, Istanbul, Turkey.
Background: Heterozygous TRPV4 mutations cause a group of skeletal dysplasias characterized by short stature, short trunk, and skeletal deformities.
Objective: The aim of this study is to compare the natural history of clinical and radiologic features of patients with different TRPV4-related skeletal dysplasias.
Materials And Methods: Thirteen patients with a mutation in TRPV4 were included in the study, and 11 were followed for a median of 6.
Combined Fronto-orbital Contouring and Orthognathic Surgery in Craniometaphyseal Dysplasia.
Plast Reconstr Surg Glob Open
December 2024
From the Department of Oral & Maxillofacial Surgery, São Leopoldo Mandic, São Paulo, Brazil.
Craniometaphyseal dysplasia is a rare congenital sclerosing skeletal dysplasia that presents with facial dimorphism and is clinically described by prominent supraorbital bridges, severe retrognathia, and respiratory problems. Fronto-orbital cranioplasty is necessary to achieve satisfactory aesthetic outcomes. The supraorbital arches were exposed to the nasal bone through coronal access, with the help of a saw and a wear drill, and osteotomy of the frontal and orbital regions with hyperostosis was performed.
View Article and Find Full Text PDFBone fracture after minor trauma in Pyle's disease: A rare case in an adult.
Radiologia (Engl Ed)
December 2024
Hospital Universitario Marqués de Valdecilla, Santander, Spain.
Pyle's disease (PD) is a rare autosomal recessive metaphyseal dysplasia with approximately 30 reported cases and has recently gained interest due to its association with specific genes. While most cases are diagnosed in childhood and are asymptomatic, we present the case of a 39-year-old woman who presented to the Emergency Department with left knee pain, patellar fracture, and "Erlenmeyer flask" deformity. Retrospective review of imaging studies and medical history revealed the symmetric and systemic nature of the skeletal disorder, confirming the diagnosis of PD.
View Article and Find Full Text PDFA rare case of skeletal dysplasia: biallelic variant in gene.
J Pediatr Endocrinol Metab
December 2024
Department of Pediatric Endocrinology, Dr. Behçet Uz Training and Research Hospital, University of Health Science, Izmir, Türkiye.
Article Synopsis
- SEMD-ACAN is a rare genetic disorder caused by mutations in the ACAN gene, leading to problems in cartilage development and resulting in short stature and various skeletal abnormalities.
- A case study of a 9-year-old girl illustrated severe growth retardation, distinct facial features, and other skeletal issues, alongside her brother who had milder symptoms.
- The findings emphasize the need for genetic testing in patients displaying symptoms of SEMD-ACAN, as early diagnosis can help understand and manage the condition better.
Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3.
Eur J Med Genet
December 2024
Department of Radiology, 365 Children's Hospital, Incheon, Republic of Korea.
Heterozygous variants of MATN3 is one of the common causes of multiple epiphyseal dysplasia (MED). Here we report three individuals from two unrelated families who harbor compound heterozygous variants in MATN3 (p.Arg121Trp and p.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!