Results 81 to 90 of about 615,013 (286)

Skeletal anomalies in patients with neurofibromatosis type 1

Гений oртопедии, 2022
Introduction Neurofibromatosis type 1 (NF1) is one of the most common hereditary tumor syndromes. The average incidence of NF1 in the world is 1:3000 of the population.
Rustam N. Mustafin
doaj   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Scoliosis deformity in Alburnus escherichii, an endemic freshwater leuciscid (Teleostei) from the Sakarya River Basin, Türkiye: morphological description and a case study

Oceanological and Hydrobiological Studies
In this study, a total of eight Alburnus escherichii individuals were captured from the Sakarya River Basin, Türkiye. In only one of these specimens, a skeletal deformity (scoliosis) was observed and examined.
Alpaslan Zafer, Güçlü Salim Serkan, Arslan Atilla, Jawad Laith A.   +3 more
doaj   +1 more source

Diagnostic accuracy of routine anomaly scans in identifying congenital malformations during the second trimester. A cross-sectional observational study.

Student's Journal of Health Research Africa
Background: Congenital malformations remain a leading cause of neonatal morbidity and mortality worldwide. Early detection through routine anomaly scans during the second trimester is critical for timely counseling, management, and improving pregnancy ...
Chhani Lal Narsingh Sidar, Dr. Vidya Laxmi   +1 more
doaj   +1 more source

Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation (AMUSE), Toward a Biomechanical Model

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) is a group of diseases with joint limitations at two or more distinct joint levels at birth. Joint limitations are not progressive, but the functional consequences have a lifelong impact on patients. The management of these conditions is therefore demanding, necessarily multidisciplinary, and is a long ...
Alicia‐Marine Milot, Mariya Raykova, Claire Huzar, Véronique Thellier, Nicolas Hergibo, Marjolaine Gauthier, Gipsy Billy‐Lopez, Chantal Durand, Frédérique Nugues, Véronique Bourg, Klaus Dieterich   +10 more
wiley   +1 more source

Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy, Pascal Joset, H. E. Veenstra‐Knol, Nicole Corsten‐Janssen, Tuula Rinne, Irene Valenzuela, Marta Codina‐Solà, Carlota Rodó, Marjolaine Willems, Constance Wells, Renaud Touraine, Maayke de Koning, Gijs Santen, Iris Hollink, André Travessa, Alessandro Mauro Spinelli, Paolo Peruzzo, Moneef Shoukier, Roland Axt‐Fliedner, Thomas Menter, Gwendolin Manegold‐Brauer, Isabel Filges   +21 more
wiley   +1 more source

Skeletal manifestations in lymphatic diseases: nonenhanced magnetic resonance lymphography

Insights into Imaging
The diffuse lymphatic diseases—generalized lymphatic anomalies (GLA) and primary lymphangiectasia—can present with both visceral and skeletal involvement.
Clément Cholet, Lise Minssen, Anne Miquel, Caroline Parlier-Cuau, Hedi Chekir, Lionel Arrivé   +5 more
doaj   +1 more source

Axially Chiral Nonalternant Polycyclic Aromatic Hydrocarbon With Consecutive Pentagons Exhibiting Large Spin‐Polarized Current

Angewandte Chemie, EarlyView.
Here we report two nonalternant polycyclic aromatic hydrocarbons (PAH) (1 and 2), which contain two and four consecutive pentagons, respectively. Under acidic conditions, 1 and 2 dimerize to afford the axially chiral dimers AC1 and AC2. The central azulene moiety in both 2 and AC2 shows an unusually short transannular bond of 1.366 Å.
Chang Wang, Jiaxin Luo, Haipeng Lu, Junzhi Liu   +3 more
wiley   +1 more source

The Role of Plain Radiography in Assessing Aborted Foetal Musculoskeletal Anomalies in Everyday Practice

Journal of Imaging
Conventional radiography is widely used for postmortem foetal imaging, but its role in diagnosing congenital anomalies is debated. This study aimed to assess the effectiveness of X-rays in detecting skeletal abnormalities and guiding genetic analysis and
Benedetta Rossini, Aldo Carnevale, Gian Carlo Parenti, Silvia Zago, Guendalina Sigolo, Francesco Feletti   +5 more
doaj   +1 more source

Ponticulus posticus in a cohort of orthodontic children and adolescent patients with different sagittal skeletal anomalies: a comparative cone beam computed tomography investigation

, 2018
Background: The objective of this study was to evaluate the prevalence and characteristics of ponticulus posticus (PP) in groups with sagittal skeletal anomalies in a Turkish population using cone beam computed tomography (CBCT)
Yeşiltepe, Selin, Yılmaz, Ahmet Berhan, S. Yeşiltepe, Ö. Miloğlu, İ. Ş. Bayrakdar, A. B. Yılmaz, Miloğlu, Özkan, Bayrakdar, İbrahim Şevki   +7 more
core   +1 more source