Results 61 to 70 of about 184,621 (397)

Growth Standards for Children With Smith–Magenis Syndrome (SMS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS, OMIM 182290) is a complex syndromic diagnosis marked by neurobehavioral differences and distinct facial dysmorphisms, caused by haploinsufficiency of the retinoic acid‐1 (RAI1) gene either by a pathogenic sequence variant or deletion at chromosome 17p11.2 involving a portion or all of this gene.
Julie Hoover‐Fong, John McGready, Leah Fleming, Kerry Schulze, Folami Duncan, Alexis Leonard, Marie Christine de Blois Boucard, Danilo Moretti‐Ferreira, Andrea L. Gropman, Wendy J. Introne, Ann C. M. Smith   +10 more
wiley   +1 more source

Is Sacral Extension a Risk Factor for Early Proximal Junctional Kyphosis in Adult Spinal Deformity Surgery? [PDF]

, 2020
Study designRetrospective cohort study.PurposeTo investigate the role of sacral extension (SE) for the development of proximal junctional kyphosis (PJK) in adult spinal deformity (ASD) surgery.Overview of literatureThe development of PJK is ...
Ames, Christopher, Bess, Shay, Burton, Douglas, Decker, Sebastian, Hart, Robert, Klineberg, Eric, Krettek, Christian, Lafage, Renaud, Lafage, Virginie, Schwab, Frank J, Smith, Justin S   +10 more
core  

Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations. [PDF]

, 2015
PurposeThe phenotypic manifestations of cerebral cavernous malformation disease caused by rare PDCD10 mutations have not been systematically examined, and a mechanistic link to Rho kinase-mediated hyperpermeability, a potential therapeutic target, has ...
Akers, Amy L, Austin, Cecilia, Awad, Issam A, De Souza, Jorge Marcondes, Gallione, Carol J, Gunel, Murat, Lee, Connie, Marchuk, Douglas A, McDonald, David A, Mikati, Abdul Ghani, Min, Wang, Rebeiz, Tania, Rorrer, Autumn, Shenkar, Robert, Shi, Changbin, Stockton, Rebecca A, Zhang, Lingjiao   +16 more
core   +2 more sources

Postoperative pain management in patients undergoing posterior spinal fusion for adolescent idiopathic scoliosis: a narrative review

Scoliosis and Spinal Disorders, 2018
Posterior spinal fusion for adolescent idiopathic scoliosis is one of the most invasive surgical procedures performed in children and adolescents. Because of the extensive surgical incision and massive tissue trauma, posterior spinal fusion causes severe
H. Seki, Satoshi Ideno, Taiga Ishihara, Kota Watanabe, M. Matsumoto, H. Morisaki   +5 more
semanticscholar   +1 more source

Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is one of the most frequent neurodevelopmental disorders and is caused by ANKRD11 variants. Postnatal short stature is observed in ~50% of patients. Recombinant human growth hormone (rhGH) has become a valuable treatment for patients with growth hormone deficiency (GHD) along with Prader–Willi and Turner syndrome. Limited evidence
Sietse M. Aukema, Kim Vandenput, Emanuela Scarano, Himanshu Goel, Lily Guo, Michiel Vanneste, Koen Devriendt, Nitash Zwaveling‐Soonawala, Cordula Kiewert, Alma Kuechler, Ilaria Parenti, Eleonora Orlandini, Elke de Boer, Siddharth Banka, Elizabeth Wall, Gholson J. Lyon, Karen J. Low, Joyce M. Geelen, Yvonne G. van der Zwan, Charlotte W. Ockeloen   +19 more
wiley   +1 more source

Misdiagnosing absent pedicle of cervical spine in the acute trauma setting

Orthopedic Reviews, 2015
Congenital absence of cervical spine pedicle can be easily misdiagnosed as facet dislocation on plain radiographs especially in the acute trauma setting.
Fahad H. Abduljabbar, Felipe Rossel, Anas Nooh, Peter Jarzem   +3 more
doaj   +1 more source

Limbus vertebrae of the cervical spine: A case report

Clinical Case Reports, 2022
Limbus vertebra is a common radiological finding in an adult, especially in the mid‐lumbar region. However it is less commonly seen in the mid cervical region.
Eleni Pappa, Ioannis Chatzikomninos
doaj   +1 more source

Scoliosis : density-equalizing mapping and scientometric analysis [PDF]

, 2012
Background: Publications related to scoliosis have increased enormously. A differentiation between publications of major and minor importance has become difficult even for experts.
Groneberg, Jan David Alexander, Mache, Stefanie, Quarcoo, David, Schöffel, Norman, Scutaru, Cristian, Vitzthum, Karin   +5 more
core  

Early and Late Reoperation Rates With Various MIS Techniques for Adult Spinal Deformity Correction. [PDF]

, 2018
Study designA multicenter retrospective review of an adult spinal deformity database.ObjectiveWe aimed to characterize reoperation rates and etiologies of adult spinal deformity surgery with circumferential minimally invasive surgery (cMIS) and hybrid ...
Akbarnia, Behrooz A, Anand, Neel, Chou, Dean, Deviren, Vedat, Eastlack, Robert K, International Spine Study Group, Kanter, Adam S, Mummaneni, Praveen V, Mundis, Gregory M, Nguyen, Stacie, Nunley, Pierce, Okonkwo, David O, Park, Paul, Srinivas, Ravi, Uribe, Juan S   +14 more
core   +1 more source

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger, Martijn V. Verhagen, Tuula Rinne, Hermine E. Veenstra‐Knol   +3 more
wiley   +1 more source