Results 41 to 50 of about 37,693 (197)

Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?

Clinical Genetics, EarlyView.
A nuclear family affected by distal arthrogryposis with novel biallelic MYH3 variants, which at the heterozygous state yield a subclinical phenotype, highlighting the complexity of MYH3‐related disorders and their inheritance modes. ABSTRACT Distal arthrogryposis constitutes a highly heterogeneous group of disorders with a critical need for clear ...
Omar Zgheib, Thomas Rio‐Frio, Michel Guipponi, Thierry Nouspikel, Siv Fokstuen, Marc Abramowicz, Philippe Khau Van Kien   +6 more
wiley   +1 more source

Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman, Annie Perraud, Ester Garne, Ingeborg Barisic, David Tucker, Elisa Ballardini, Lea Bruneau, Clara Cavero‐Carbonell, Ianis Cousin, Miriam Gatt, Katya Kovacheva, Anna Latos‐Bielenska, Mary O'Mahony, Isabelle Monier, Isabelle Perthus, Riccardo Pertile, Anke Rissmann, Florence Rouget, Michelle Santoro, Joanna Sichitiu, Christine Verellen‐Dumoulin, Wladimir Wertelecki, Diana Wellesley, Joan K. Morris   +23 more
wiley   +1 more source

Sacroiliac Joint Involvement: An Underreported Complication of NF1

American Journal of Medical Genetics Part A, Volume 200, Issue 1, Page 223-228, January 2026.
ABSTRACT NF1‐related bone dysplasia in children and young adults with neurofibromatosis type 1 (NF1) involving the sacroiliac joint has been rarely described. We report four participants who underwent whole‐body magnetic resonance imaging (WB‐MRI) as part of a longitudinal imaging and plexiform neurofibroma (PN) biomarker study (NCT05238909) at Ann ...
Jenny P. Garzon, Eva Dombi, Jonathan Samet, Maria P. Silva, Carolyn R. Raski, Michael Sawin, Carlos E. Prada   +6 more
wiley   +1 more source

CDG due to Defective Membrane Transporters: Update

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Congenital disorders of glycosylation are genetic defects in the glycoprotein and glycolipid glycan assembly and attachment. Some 200 CDG have been reported since the first clinical description in 1980. Most CDG are enzymatic deficiencies, but 13 (6.5%) are defects in the ER, Golgi apparatus (GA), and plasma membrane transporters.
D. Quelhas, C. R. Ferreira, J. Jaeken
wiley   +1 more source

COMPLICATIONS OF HIP JOINT ENDOPROSTHESIS

Паёми Сино, 2017
Objective: To study the complications of hip joint endoprosthesis for congenital hip dislocation. Methods: The study included 62 patients, who performed hip joint endoprosthesis (HJE). Timing observations were from 2 to 12 years.
J.M. SAFAROV
doaj   +1 more source

From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Krista Casazza, Roberto Giugliani, Debra S. Regier, Jeanine Jarnes   +3 more
wiley   +1 more source

Using the Transverse Acetabular Ligament as a Landmark for Acetabular Anteversion: An Intraoperative Measurement

Journal of Orthopaedic Surgery, 2013
Purpose. To measure the transverse acetabular ligament (TAL) anteversion in hips with severe deformity, using fluoroscopy–computed tomographic navigation. Methods.
Masahiro Inoue, Tokifumi Majima, Satomi Abe, Takayuki Nakamura, Taiki Kanno, Takeshi Masuda, Akio Minami   +6 more
doaj   +1 more source

Ultrasound screening for developmental dysplasia of the hip and its socioeconomic impact: Experience of tertiary care health level

Alexandria Journal of Medicine, 2014
Objective: The purpose of this study was to investigate the usefulness of screening ultrasound to detect developmental dysplasia of the hip in infants with risk factors and to assess its socioeconomic impact. Patients and methods: This is a retrospective
Khaled Aly Matrawy, Mohamed Ragab Nouh
doaj   +1 more source

Understanding Disease Aetiology and Related Needs Knowledge of Parents of Children With Spina Bifida

Child: Care, Health and Development, Volume 52, Issue 1, January 2026.
ABSTRACT Objective Spina bifida (SB), a birth defect impacting the central nervous system, may disrupt family functioning, elevate risk for psychosocial concerns in family members, and require extensive medical management. Parental knowledge of their child's medical condition supports parents in managing youth health needs, advocating for their child ...
Olivia E. Clark, Madeleine C. Suhs, Taylor L. Hilderbrand, Monique M. Ridosh, Elicia C. Wartman, Eva Darow, Grayson N. Holmbeck   +6 more
wiley   +1 more source

Orthopedic surgery after selective dorsal rhizotomy in children with cerebral palsy: A matched cohort study

Developmental Medicine &Child Neurology, Volume 68, Issue 1, Page 118-127, January 2026.
Using historical data from a single center, we identified two groups of individuals based on their history of SDR (yes‐SDR and no‐SDR), matched at baseline on key clinical variables. We defined 10 orthopedic surgery categories. We then fitted Kaplan–Meier estimates of cumulative incidence for each surgery, stratified according to SDR status.
Michael H. Schwartz, Andrew G. Georgiadis   +1 more
wiley   +1 more source