Results 31 to 40 of about 4,834 (221)

Indicators to assess the functionality of clubfoot clinics in low-resource settings: a Delphi consensus approach and pilot study. [PDF]

, 2006
Background: This study aims to determine the indicators for assessing the functionality of clubfoot clinics in a low-resource setting. Methods: The Delphi method was employed with experienced clubfoot practitioners in Africa to rate the importance of ...
Tracey Smythe, Debra Mudariki, Allen Foster, Christopher Lavy, Kruk, Kruk, Barker, Smythe, Shabtai, Morcuende, Smythe, Evans, Smythe, Boulkedid, Sinha, Jones, Fink, Graham, Pencheon, Mainz, Goodman, Portney, Sinha, World Health Organization, Campbell, Shahian, Radler   +26 more
core   +1 more source

A Frameshift RBM10 Variant Associated With TARP Syndrome

Frontiers in Genetics, 2022
TARP syndrome is a rare X-linked genetic condition caused by mutations in the RBM10 gene. Primary clinical characteristics of TARP syndrome include Talipes equinovarus, Atrial septal defect, Robin sequence and Persistent left superior vena cava.
Han Daicheng, Xia Shiwen, Zhang Jingxuan, Hu Junbo, Wang Bo   +4 more
doaj   +1 more source

Agenesis of the Corpus Callosum and Skeletal Deformities in Two Unrelated Patients: Analysis via MRI and Radiography

Case Reports in Orthopedics, 2014
Purpose. Mental retardation, mild to severe epilepsy and cerebral palsy often of hemiplegic type are common accompaniments in patients with agenesis/hypoplasia of the corpus callosum.
Ali Al Kaissi, Herbert Kurz, Wolfgang Bock, Gerald Pärtan, Klaus Klaushofer, Rudolf Ganger, Franz Grill   +6 more
doaj   +1 more source

The developmental and genetic basis of 'clubfoot' in the peroneal muscular atrophy mutant mouse [PDF]

, 2018
ACKNOWLEDGEMENTS We thank Professors Cheryll Tickle and Françoise Helmbacher for discussion and reagents. We thank staff at the Aberdeen Medical Research Facility for specialist technical assistance.Peer reviewedPublisher ...
Alvarado, Alvarado, Ashby, Bandyopadhyay, Basit, Bayarsaihan, Bechtol, Bubb, Capossela, Cartlidge, Chantranupong, Chapman, de Andrade, Deng, Dickinson, Dittrich, Dobbs, Dobbs, Duce, Duce, Dupressoir, Edmonds, Endo, Enkhmandakh, Ester, Flynn, Francke, Gallo, Gurnett, Hamburger, Hecht, Heck, Helmbacher, Hoogenraad, Hoogenraad, Hoogenraad, Huang, Ippolito, Isaacs, Iwaki, Jackson, Jessell, Kania, Kao, Katoh, Kawano, Kramer, Landmesser, Li, Li, Lindström, Liu, Lu, Maekawa, McKenna, Meng, Miedzybrodzka, Morris, Nakamura, Nonaka, Odani, Ohno, Palmer, Palmer, Peterson, Phan, Ponseti, Porter, Rebbeck, Rosso, Sahin, Sarmiere, Sharp, Song, Stewart, Sumi, Tarchini, Torniero, Tursun, Van der Aa, VanderMeer, Wagenseil, Wang, Wang, Wen, Weymouth, Yang, Yang, Yoshioka   +88 more
core   +5 more sources

Talipes equinovarus in children [PDF]

Саратовский научно-медицинский журнал, 2017
The research goal of the review is to present data on etiology, prevalence, classification of different types TEN/ in children. Mechanisms of pathological foot type, indications for conservative and surgical methods of treatment have been analyzed.
Timaev M.Kh., Sertakova A.V., Kurkin S.A., Rubashkin S.A., Anisimova E.A., Anisimov D.l.   +5 more
doaj  

Pedigree analysis and epidemiological features of idiopathic congenital talipes equinovarus in the United Kingdom: a case-control study

BMC Musculoskeletal Disorders, 2007
Background Congenital talipes equinovarus (CTEV) is a common developmental disorder of the foot, affecting between 1 and 4.5 per 1000 live births. The aetiology is not well elucidated.
Maffulli N, Sharp L, Chesney D, Barker S, Cardy AH, Miedzybrodzka Z   +5 more
doaj   +1 more source

Our results in surgical therapy of congenital pes equinovarus

Acta Orthopaedica et Traumatologica Turcica, 2021
Patients who were operated between 1983-1990 with the diagnosis of congenital talipes equinovarus were reevaluated for good function, clinically and radiologically with our invitation.
Ercan Cetinus, Hakan Huner, Ilhan Cever, Haldun Erturk, Ahmet Korkmaz   +4 more
doaj  

Baraitser–Winter syndrome: An additional Egyptian patient with skeletal anomalies, bilateral iris and choroid colobomas, retinal hypoplasia and hypoplastic scrotum

Egyptian Journal of Medical Human Genetics, 2016
We report a 3.5 year old male child, second in order of birth of non consanguineous Egyptian parents with Baraitser–Winter syndrome (BRWS). The patient had bilateral colobomas of the iris and choroid.
Rabah M. Shawky, Radwa Gamal, Shaimaa Abdelsattar Mohammad   +2 more
doaj   +1 more source

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy [PDF]

, 2015
OBJECTIVE To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.
Al-Lozi, Muhammad T, Baas, Frank, Baloh, Robert H, Benatar, Michael, Calissano, Mattia, Chong, W K Kling, Cirak, Sebahattin, Connolly, Anne M, de Goede, Christian G E L, De Visser, Marianne, Fallon, Penny, Foley, A Reghan, Hadjikoumi, Irene, Hafezparast, Majid, Harms, Matthew B, Klein, Andrea, Mansour, Sahar, Manzur, Adnan Y, Martínez Arroyo, Amaia, Mcwilliam, Catherine, Mercuri, Eugenio, Muntoni, Francesco, Nixon, John, Overweg-Plandsoen, W C G Truus, Phadke, Rahul, Pitt, Matthew, Reilly, Mary M, Robb, Stephanie, Rodriguez Sanz, Aida, Rossor, Alexander M, Scoto, Mariacristina, Sewry, Caroline, Taylor, J Paul, Yang, Michele   +33 more
core   +1 more source

Outcomes of the Clubfoot Treatment with the Ponseti Method: Recurrence and Prognostic Factors

Journal of Orthopedic and Spine Trauma, 2022
Background: Clubfoot is a multifactorial disease with the prevalence of one in 1000 live births. The presentations of clubfoot are forefoot adductus, hindfoot varus, cavus, and equinus.
Arash Maleki, Seyed Reza Aghapour, Abaalfadel abbas saleh   +2 more
doaj   +1 more source