Results 51 to 60 of about 16,131 (205)

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

Clinical, Neuroimaging and Video Electroencephalography Findings in Children With Congenital Zika Syndrome: An Analysis From a Neurorehabilitation Centre

International Journal of Developmental Neuroscience, Volume 86, Issue 2, April 2026.
Children with congenital Zika syndrome followed at a neurorehabilitation centre demonstrated severe neurological impairment characterized by microcephaly, cortical malformations, intracranial calcifications and multifocal epileptiform activity. Integrated clinical, neuroimaging and video‐electroencephalographic (EEG) findings highlight the extensive ...
Adilina Soares Romeiro Rodrigues, Pedro Ykaro Fialho Silva, Ramiro Pinheiro Rodrigues, Kylvia Giselle Fernandes Dantas Pinho, Sthefani da Costa Penha, Álvaro Jorge Madeiro Leite   +5 more
wiley   +1 more source

Easier diagnosis of congenital dislocation of the hip

South African Family Practice, 1984
No abstract available.
Solly B. Shochet
doaj   +1 more source

Bilateral Congenital Dislocation of the Knee with Ipsilateral Developmental Dysplasia of the Hip – Report of Three Patients [PDF]

, 2010
Congenital dislocation of the knee (CDK) is a very rare condition. Here we report our strategy and results in treatment of three children with CDK. All three patients were treated with conservative method, and only one had underwent a surgical procedure ...
Barbara Gruber, Branko Šestan, Darko Ledić, Ivan Rakovac, Sandor Roth, Zdenko Ostojić   +5 more
core   +1 more source

Recurrent Constellations of Embryonic Malformations (RCEM): Teratogenicity Linked to Transient Hypoxia and Hormone Pregnancy Tests Agrees With RCEM and Suggest a Reactive Oxygen Species Pathogenesis

Birth Defects Research, Volume 118, Issue 3, March 2026.
ABSTRACT Background No consistent genetic etiology has been found for a group of six different conditions in humans with multiple malformations called “recurrent constellations of embryonic malformations” (RCEM). Recent studies indicate hypoxia/reoxygenation and generation Reactive Oxygen Species (ROS) as an underlying mechanism for RCEM with the ...
Aaron P. Adam, Helen E. Ritchie, Margaret P. Adam, Bengt R. Danielsson   +3 more
wiley   +1 more source

Fetal leg posture in uncomplicated breech and cephalic pregnancies [PDF]

, 2008
Background The objective of our study was to determine differences in prenatal leg posture development between breech and cephalic-born babies. Materials and methods Ten healthy fetuses in breech and ten healthy fetuses in cephalic presentation were ...
A Chan, BF Fong, BF Fong, BF Fong, Bianca F. Fong, C Amiel-Tison, D Bartlett, DA Sival, DA Sival, G Herlitz, Geert J. P. Savelsbergh, GJ Kloosterman, H Whyte, HP Lehmann, J Bradley, Johanna I. P. de Vries, M Luterkort, ME Hannah, O Rühmann, PJ Danielian   +19 more
core   +4 more sources

Adult Survival in SMA Type 1: A 23‐Year Journey With Home Ventilation and Multidisciplinary Support

Clinical Case Reports, Volume 14, Issue 3, March 2026.
Diffuse brain atrophy and calvarial hyperostosis in a long‐term survivor of very early onset SMA type 1. ABSTRACT Spinal muscular atrophy (SMA) type 1 is a severe autosomal recessive neuromuscular disorder caused by loss‐of‐function variants in the SMN1 gene, typically leading to death within the first two years without intervention. Long‐term survival
Antonio E. Camelo‐Filho, Renata Monteiro Jovino, Betina S. Tomaz, Paulo R. Nóbrega, Marcelo A. Holanda   +4 more
wiley   +1 more source

Use of Robotic‐Arm Assisted Technique in Complex Primary Total Hip Arthroplasty

Orthopaedic Surgery, 2020
Background There is a lack of data concerning the use of robotic devices in more complex total hip arthroplasty (THA) cases, such as hip dysplasia, ankylosing spondylolysis, and post‐traumatic arthritis.
Wei Chai, Ren‐wen Guo, Ken Lee Puah, Seth Jerabek, Ji‐ying Chen, Pei‐fu Tang   +5 more
doaj   +1 more source

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, Volume 255, Issue 3, Page 228-245, March 2026.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source

Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis. [PDF]

, 2011
We present the case of an 18-month-old boy with dysmorphic facial features, developmental delay, growth retardation, bilateral clubfeet, thrombocytopenia, and strabismus, whose array CGH analysis revealed concurrent de novo trisomy 10p11.22p15.3 and ...
Dipple, Katrina M, Kohannim, Omid, Peredo, Jane, Quintero-Rivera, Fabiola   +3 more
core   +2 more sources