Results 271 to 280 of about 184,621 (397)

The assessment and treatment of the musculoskeletal manifestations of cystinosis. [PDF]

Front Nephrol
Singh P, Marsh D, Sharkey M.
europepmc   +1 more source

Ducroquet's Extension Brace for Treatment of Scoliosis

, 1969
Yoshiharu Takemitsu, Yôichi Sugioka, K. Morihisa, N. Tsunoda, M. Miyamato, Shinya Tada, Ichiro Ishikawa   +6 more
openalex   +2 more sources

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source

Surgical treatment of severe and rigid Scheuermann’s kyphosis with gradual anterior column lengthening and simultaneous sequential posterior compression technique following PVCR: Case series

Brain and Spine
U. Yuzuguldu, H. Mraja, B. Peker, K. Emre, H. Gok, Y. Bilge Kagan, T. Sanli, A. Mutlu, O.L. Ulusoy, S. Karadereler, M. Enercan, A. Hamzaoglu   +11 more
doaj   +1 more source

Could scoliosis at the age of 7 months be a manifestation of progressive pseudorheumatoid dysplasia? A case report. [PDF]

J Med Case Rep
Janoud O, Chaer S, Shikha Y, Khalil B.
europepmc   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Comparison of multi-level interbody fusion with bilateral facetectomy and discectomy vs multi-level unilateral TLIF approach for restoration of thoracolumbar and lumbar sagittal balance in adult spinal deformity surgery

Brain and Spine
U. Yuzuguldu, B. Peker, H. Mraja, K. Emre, Y. Bilge Kagan, H. Gok, A. Sepehr, T. Sanli, S. Karadereler, M. Enercan, A. Hamzaoglu   +10 more
doaj   +1 more source

Quality of life in adolescents with idiopathic scoliosis: A cross-sectional comparison. [PDF]

S Afr J Physiother
Güttinger K, Neuhaus C, Schwank A.
europepmc   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Effect of the Rovatti Method^® (Physiotherapeutic Scoliosis-Specific Exercises) in an Adolescent Patient with Idiopathic Scoliosis: A Case Report. [PDF]

Reports (MDPI)
Rovatti M, Rovatti E, Belli G, Baldoni N, Maietta Latessa P.   +4 more
europepmc   +1 more source