Results 31 to 40 of about 727 (143)
Improving the Accuracy of Corrective Osteotomy for Congenital Radio Ulnar Synostosis using the Axis of Rotation of the Forearm as a Guide [PDF]
Malaysian Orthopaedic Journal, 2023 Introduction: Despite several techniques for corrective osteotomy in congenital radioulnar synostosis (CRUS) the published literature lacks a guide for radiographic planning and rationale for the site and level of the osteotomy.
Gandhi S +4 more
doaj +1 more source
Medicina, 2023 Background and Objectives: Only nine patients with interstitial de novo 8q22.2q22.3 microdeletions have been reported to date. The objective of this report is to present clinical features of a new patient with an 8q22.2q22.3 microdeletion, to compare her
Ruta Kalinauskiene +6 more
doaj +1 more source
Clinical heterogeneity of polish patients with KAT6B–related disorder
Molecular Genetics &Genomic Medicine, Volume 11, Issue 12, December 2023., 2023 We present a detailed phenotypic analysis of six individuals with KAT6B‐related disorders, in whom a heterozygous pathogenic variant in KAT6B gene was found. We report six SBBYS syndrome patients with the same dysmorphic features but a different course of the disease.
Klaniewska Magdalena +13 more
wiley +1 more source
Surgical Treatment of Congenital Radioulnar Synostosis in Children: Systematic Review [PDF]
Travmatologiâ i Ortopediâ Rossii, 2022 Background. Congenital radioulnar synostosis (CRUS) may have a negative impact on the function of the upper limb and cause disability. The main aim of the surgical treatment is to correct the forearm position for diminishing functional limitations ...
Yulia A. Fedorova +4 more
doaj +1 more source
British Journal of Haematology, Volume 203, Issue 5, Page 852-859, December 2023., 2023 MECOM gene encodes for EVI1, a transcription factor involved in hematopoietic stem cells (HSCs) renewal and maintenance, whose mutations causes MECOM‐associated syndrome (MECOM‐AS). It was recently demonstrated that mutations of EVI1 result in impaired self‐renewal of LT‐HSCs. Functional studies of a novel missense mutation allowed us to provide a link
Daniele Ammeti +10 more
wiley +1 more source
Clinical heterogeneity of NADSYN1‐associated VCRL syndrome
Clinical Genetics, Volume 104, Issue 1, Page 114-120, July 2023., 2023 Clinicians should suspect NAD deficiency disorder when a patient presents with congenital malformations, especially when vertebral, cardiac, renal, or limb defects are present. We expanded NAD deficiency disorder spectrum with the presentation of three cases from two unrelated families, with high inter‐ and intra‐familial variability.
Marion Aubert‐Mucca +10 more
wiley +1 more source
A core musculoskeletal anatomy syllabus for undergraduate physical therapy student education
Clinical Anatomy, Volume 36, Issue 2, Page 190-223, March 2023., 2023 Abstract Knowledge of musculoskeletal anatomy is fundamental to physical therapy education. Although detailed anatomy syllabi have been developed for medical and other health professional students, none are available for training physical therapists. Therefore, the aim of this project was to produce a core musculoskeletal anatomy syllabus specific to ...
Stephanie J. Woodley +2 more
wiley +1 more source
Skeletal dysplasia of an adult male from medieval Łekno in Poland, Central Europe
International Journal of Osteoarchaeology, Volume 32, Issue 6, Page 1300-1309, November/December 2022., 2022 Abstract The skeletal dysplasias are a group of more than 450 heritable disorders that affect bone and cartilage, along with muscles, tendons, and ligaments. Achondroplasia is one of the most common skeletal dysplasias in both current and past populations. It can be transmitted intergenerationally, or it can result from a mutation.
Magdalena D. Matczak +5 more
wiley +1 more source
Clinical Case Reports, Volume 10, Issue 9, September 2022., 2022 There is no association between maternal age and Fraccaro syndrome. Along with classical clinical features of Fraccaro syndrome, our case further presented unusual sexual masturbation behavior. Fraccaro syndrome features in an undiagnosed male should be followed by karyotype analysis and a subsequent appropriate treatment for adequate growth and ...
Mahboubeh Rajabzadeh +2 more
wiley +1 more source
Painful Locking Elbow in a Child with Congenital Proximal Radioulnar Synostosis
Journal of Hand Surgery Global Online, 2019 Painful snapping or locking in the elbow is an uncommon presentation that has been observed in children with proximal radioulnar synostosis. Only a few cases have been reported in the English language literature.
Nezar B. Hamdi, MD, SBOS +3 more
doaj +1 more source