Results 31 to 40 of about 4,040 (158)
JCRPE, 2022 ACAN variants can manifest as various clinical features, including short stature, advanced bone age (BA), and skeletal defects. Here, we report rare clinical manifestations of ACAN defects in a 9 year, 5 month-old girl born small for gestational age (SGA)
Su Ji Kim, Jong Seo Yoon, Il Tae Hwang
doaj +1 more source
Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan +5 more
wiley +1 more source
Prevalence of lower limb deformities among primary school students
Egyptian Rheumatology and Rehabilitation, 2021 Background Lower limb deformities could affect child's quality of life and may worsen with time. This work aims to study the prevalence of lower limb deformities among primary school students in our governorate.
Sahar Saad Ganeb +4 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia +6 more
wiley +1 more source
Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila +3 more
wiley +1 more source
Supracondylar “V” osteotomy for postrachitic genu valgum in children: A case series
Journal of Orthopedics, Traumatology and Rehabilitation, 2017 Objectives: Among the various options available for correction of genu valgum deformities, supracondylar “V” osteotomy is a sparsely used technique. We used the technique for correction of postrachitic deformity in late childhood and adolescence and ...
Anil Agarwal, Abbas Shaharyar
doaj +1 more source
Arthroscopy, EarlyView.Abstract Purpose To evaluate the surgical methods, clinical outcomes, and complication profile of patients undergoing medial quadriceps tendon‐femoral ligament reconstruction (MQTFLR), either isolated or as medial patellofemoral complex reconstruction (MPFCR), for recurrent patellar instability.
Harjind Kahlon +6 more
wiley +1 more source
Arthroscopy Techniques, EarlyView.Abstract Recurrent lateral patellar instability poses a technical challenge to orthopaedic surgeons. Isolated soft‐tissue procedures through medial patellofemoral ligament reconstruction or lateral release show unacceptably high failure rates. Lateral opening wedge distal femoral osteotomy addresses underlying bony malalignment and reinforces the soft ...
Alexander P. Decilveo +4 more
wiley +1 more source
Knee Surgery, Sports Traumatology, Arthroscopy, EarlyView.Abstract Purpose To compare the patellar tendon–lateral trochlear ridge (PT‐LTR) distance and patellar tendon–trochlear groove angle (PT‐TGA) between patients with lateral patellar instability (LPI) and those with malalignment‐induced patellofemoral pain (PFP), and to evaluate their differential diagnostic validity.
Razvan Pacala +5 more
wiley +1 more source