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A new phenotype of EVEN-PLUS syndrome in a Chinese family and literature review.
Mol Genet Genomic Med
January 2024
Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Background: Epiphyseal, Vertebral, Ear, and Nose (EVEN)-PLUS syndrome is a rare condition characterized by the involvement of the Epiphyses, Vertebrae, Ears, and Nose, plus other associated findings, due to pathogenic variants in the HSPA9 gene. Due to the sparse number of patients, the clinical phenotypic spectrum is not clear.
Methods: We report two patients with pathogenic HSPA9 variants from a Chinese family.
The Association of Cone-shaped Epiphysis and Poland Syndrome.
Plast Reconstr Surg Glob Open
March 2023
Plastic and Reconstructive Surgery Division, Department of Surgery, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Poland syndrome is a congenital anomaly with two clinical features: unilateral agenesis of the pectoralis major and ipsilateral hand symbrachydactyly. We report a rare case of bilateral Poland syndrome with several unique features. Poland syndrome is thought to be due to a vascular insult to the subclavian axis around the sixth week of gestation.
View Article and Find Full Text PDFFrequency and Characteristics of Metacarpal Pseudoepiphyses in Healthy Children Aged 5-15 Years.
Turk Arch Pediatr
November 2022
Division of Pediatric, Department of Pediatrics, Endocrinology, Aydın Adnan Menderes University, Aydın, Türkiye.
Objective: Pseudoepiphyses are notches and clefts located at the non-epiphyseal ends of the metacarpal bones. There are very few studies regarding the frequency of pseudoepiphysis.
Material And Methods: Subjects between the ages of 5 and 15, whose hand radiographs were obtained between 2015 and 2021 in our Radiology Department, were included in this study.
Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita.
Hum Genome Var
May 2022
Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
Article Synopsis
- Spondyloepiphyseal dysplasia congenita (SEDC) is a genetic skeletal disorder linked to mutations in the COL2A1 gene, leading to various skeletal and extraskeletal issues.
- The study focuses on five Japanese patients who exhibited novel missense variants in the COL2A1 gene, all resulting in glycine substitutions, which correlate with the disease's characteristics.
- Early genetic testing is emphasized as crucial for managing potential complications related to SEDC, including vision problems and other physical abnormalities.
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