Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.2214/ajr.108.3.481 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Further characterization of ARSK-related mucopolysaccharidosis type 10.
Am J Med Genet A
August 2024
Department of Pediatric Genetics, Istanbul University-Cerrahpaşa, Cerrahpaşa Medical Faculty, Istanbul, Turkey.
Mucopolysaccharidosis type 10 is caused by biallelic variants in ARSK, which encodes for a lysosomal sulfatase. To date, seven patients with a mild phenotype resembling spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia have been described. In this report, we present two novel ARSK variants and report clinical and radiological findings of three patients.
View Article and Find Full Text PDFQuantitative Analysis of Deformity in Digital Model of Congenital Radioulnar Synostosis.
Orthop Surg
May 2023
Department of Hand Surgery, Beijing Ji Shui Tan Hospital, Beijing, China.
Objective: The deformity of congenital radioulnar synostosis is quite complicated and difficult. This study aims to find out the related factors of the "forearm rotation angle" (FR) which relate to the severity of congenital radioulnar synostosis (CRUS), and try to quantify the internal relations of each deformity and help to understand the reconstruction method in surgery treatment of this disease.
Methods: This study is case series research.
A pictorial review of the radiographic skeletal findings in Morquio syndrome (mucopolysaccharidosis type IV).
Pediatr Radiol
May 2023
Department of Medical Imaging, University of Saskatchewan, 103 Hospital Drive, Saskatoon, Saskatchewan, S7N 0W8, Canada.
Morquio syndrome, also known as Morquio-Brailsford syndrome or mucopolysaccharidosis type IV (MPS IV), is a subgroup of mucopolysaccharidosis. It is an autosomal recessive lysosomal storage disorder. Two subtypes of Morquio syndrome have been identified.
View Article and Find Full Text PDFLow bone mineral density on DXA and slipped capital femoral epiphysis as rare presentation in a child with Rubinstein-Taybi syndrome.
BMJ Case Rep
August 2021
Growth and Endocrine Unit, Hirabai Cowasji Jehangir Medical Research Institute, Pune, Maharashtra, India
Article Synopsis
- A 7-year-old girl with Rubinstein-Taybi syndrome (RTS) was treated for slipped capital femoral epiphysis (SCFE) through bilateral arthroscopy, which successfully resolved her symptoms.
- After the procedure, she suffered a femur fracture from minor trauma, prompting a DXA scan to assess her bone health.
- The results showed low bone mineral density (BMD), raising questions about whether she meets the criteria for osteoporosis as defined by the International Society for Clinical Densitometry guidelines.
Total Hip Arthroplasty in a Patient with Mucopolysaccharidosis Type IVB.
Case Rep Orthop
April 2021
Department of Orthopedic Surgery, ENDO-Klinik Hamburg, Holstenstr. 2, 22767 Hamburg, Germany.
. Morquio syndrome or mucopolysaccharidosis (MPS) type IV is a rare autosomal recessive lysosomal storage disease, characterized by abnormal metabolism of glycosaminoglycans associated with specific skeletal deformities, also known as dysostosis multiplex. .
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!