Results 131 to 140 of about 2,781,607 (301)

Consultations for Poland Syndrome: The Essentials for a Thoracic Surgeon

Medicina
Poland syndrome (PS) is a rare congenital musculoskeletal entity occurring in approximately 1 in 30,000 newborns that manifests with variable symbrachydactyly, ipsilateral costochondral deformities, an absence of pectoral muscles, and breast ...
Małgorzata Edyta Wojtyś, Dawid Kordykiewicz, Janusz Wójcik, Periklis Tomos, Konstantinos Kostopanagiotou   +4 more
doaj   +1 more source

Treatment of unilateral congenital flexural and torsional limb deformities with circular external skeletal fixation system in two calves

, 2011
Summary Case description: Two calves with unilateral congenital flexural and torsional limb deformities below the hock joint of the left hindlimb were presented to Veterinary Teaching Hospital of the Ondokuz Mayis University.
C. Yardimci, A. Ozak, H. O. Nisbet
core   +1 more source

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long‐Read Sequencing

Clinical Genetics, EarlyView.
Pathogenic IGF2 variants on the paternal allele can cause Silver–Russell syndrome, with highly variable growth and neurodevelopmental outcomes. Long‐read sequencing can determine the parental origin of de novo IGF2 variants via methylation patterns without parental samples, improving diagnostics for imprinted genes.
Trine Maxel Juul, Susanne Eriksen Boonen, Katja Venborg Pedersen, Caroline Hey Bækgaard, Martin Larsen, Maria Kibæk, Niels Illum, Malene Heideman, Christiane Nielsen, Emilie Boye Lester, Christina Fagerberg   +10 more
wiley   +1 more source

Congenital Hand Defects

, 2011
Congenital hand ...
Snyder, Clifford C., M.D.
core  

A Familial Case of Thauvin–Robinet–Faivre Syndrome (TROFAS), Presenting With Postaxial Polydactyly and Upper Lip Vascular Malformation

Clinical Genetics, EarlyView.
These two siblings carrying the homozygous FIBP c.412‐3_415dupCAGTTTG variant, previously identified in several Turkish families, further delineate the clinical spectrum of TROFAS. Postaxial polydactyly and an upper lip vascular malformation, observed in Patient 2, have not previously been reported in association with this syndrome.
Federica Ruscitti, Xenia Latypova, Faustine Ageorges, Antonio Vitobello, Christophe Philippe, Frédéric Tran Mau Them, Yannis Duffourd, Georges Gelwane, Cherine Benzouid, Yline Capri   +9 more
wiley   +1 more source

Predictive utility of a simple cranial magnetic resonance imaging score at term‐equivalent age for cerebral palsy

Developmental Medicine &Child Neurology, EarlyView.
This study evaluated the Total Abnormality Score (TAS) from cMRI at term‐equivalent age as a predictor of cerebral palsy (CP) in 137 infants born preterm or with low birthweight. Infants who developed CP had significantly higher TAS values (median 11 vs 2), with a TAS cut‐off of 9.5 demonstrating high sensitivity (88.9%) and specificity (91.4%) for CP ...
Anne‐Kathrin Dathe, Britta Maria Huening, Pia Deborah Weber, Uta Teschler, Maire Brasseler, Ursula Felderhoff‐Mueser, Monia Vanessa Dewan   +6 more
wiley   +1 more source

Congenital Deformity of the Forearm and Hand [PDF]

Proceedings of the Royal Society of Medicine, 1929
openaire   +2 more sources

Rheumatoid Arthritis-Like Hand Deformities in a Case with Osteogenesis Imperfecta: A Case Report [PDF]

, 2010
Summary Osteogenesis imperfecta is a disease that involves mesodermal tissues and characterized by decreased bone mass and increased bone fragility.
M. Fethi Ceylan, Levent Ediz, Yasemin Özkan, İbrahim Tekeoğlu, Özcan Hız   +4 more
core  

Children's and young people's perspectives on extended reality in paediatric rehabilitation: A qualitative study

Developmental Medicine &Child Neurology, EarlyView.
Aim To explore children's and young people's experiences with extended reality (XR) in rehabilitation, their perceptions of its benefits and challenges, and their visions for its future integration. Method A qualitative, interpretive, descriptive study was conducted using semi‐structured interviews and focus groups with children and young people who ...
Jéromine Hervo, Audrey Ferron, Marietta Kersale, Aurelie Merrer, Enora Croguennec, Sylvain Brochard, Danielle E. Levac, Rodolphe Bailly, Christelle Pons   +8 more
wiley   +1 more source

Definition of childhood visual impairment: A systematic overview of reviews and authoritative sources across clinical, research, and policy contexts

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aims To identify, synthesize, and compare current terminologies and definitions of cerebral visual impairment (CVI) in children across clinical, research, educational, and policy settings. Method We conducted a systematic overview of systematic reviews and authoritative documents registered in PROSPERO (CRD420251025233) and reported in ...
Martina Micai, Letizia Gila, Francesca Fulceri, Angela Caruso, Mara Sabbioni, Els Ortibus, Elisa Maria Fazzi, Corinna Bauer, John Ravencroft, Maria Luisa Scattoni   +9 more
wiley   +1 more source