Results 51 to 60 of about 4,099 (221)

Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)? [PDF]

, 2015
published_or_final_versio
Abe, Y, Adelstein, RS, Chung, BHY, Ganetzky, R, Hong, SK, Kruszka, P, Ma, X, Martinez, AF, Muenke, M, Mullikin, JC, Mutesa, L, Stevenson, RE, Uwineza, A, Zackai, EH   +13 more
core   +1 more source

Screening for musculoskeletal system malformations and birth injuries in newborns: Results of a screening program in two hospitals in Shenzhen, China

Pediatric Investigation, 2022
Importance There are a variety of musculoskeletal malformations and injuries that can occur in newborns. These can be a significant cause of perinatal death or a reason for miscarriage and can lead to long‐term functional issues if not managed ...
Zhu Xiong, Zhenhui Zhao, Hansheng Deng, Xin Qiu, Weiqing Li, Xiaodi Chen, Yu Tang, Shuai Han, Jiaxin Zhao, Ting Cai, Xian Liu, Shuaidan Zeng, Shengping Tang   +12 more
doaj   +1 more source

Amniotic band syndrome

Archives of Medicine and Health Sciences, 2018
Amniotic band syndrome is a rare and complex congenital disorder characterized by constricting rings, acrosyndactyly, or often amputations of extremities of neonates.
Umma Abdullahi Idris
doaj   +1 more source

European Monitoring of Congenital Anomalies: JRC-EUROCAT Report on Statistical Monitoring of Congenital Anomalies (2006 – 2015) [PDF]

, 2017
Worldwide, congenital anomalies are a leading cause of fetal death, infant mortality and morbidity in childhood. Of the 5.2 million births in the European Union (EU) each year, approximately 104,000 (2.5%) will be born with congenital anomalies.
GARNE ESTER, KINSNER-OVASKAINEN AGNIESZKA, LANZONI MONICA, LOANE MARIA, MORRIS JOAN   +4 more
core   +2 more sources

Selective Serotonin Reuptake Inhibitor (SSRI) Antidepressants in Pregnancy and Congenital Anomalies: Analysis of Linked Databases in Wales, Norway and Funen, Denmark [PDF]

, 2016
Background: Hypothesised associations between in utero exposure to selective serotonin reuptake inhibitors (SSRIs) and congenital anomalies, particularly congenital heart defects (CHD), remain controversial. We investigated the putative teratogenicity of
A Bérard, A Bérard, A Einarson, A Flower, A Klemetti, A Pop, A Stein, A Wemakor, AC Eke, AJ Santos-Silva, AK Hannerfors, AL Salisbury, Anders Engeland, Anne V. Hansen, AS Gadkari, AV Margulis, B Barzo, B Wilffert, Breidge Boyle, C Coupland, C Hiemke, C Hutton, C Louik, C Schaefer, CD Chambers, CD Chambers, CG Coughlin, CP Torfs, Daniel S. Thayer, David Tucker, DV Ford, E Demidenko, E Jimenez-Solem, E Jimenez-Solem, E Ramos, EC van Geffen, Ester Garne, F Burdan, G Latendresse, Gareth I. Davies, GH Guyatt, H Huang, H Malm, Helen Dolk, HR Amick, HW Kildemoes, I Kirsch, IF Casson, J Gardosi, J Langhoff-Roos, J Morrow, J Reefhuis, J Talbot, JA Cole, JB Kornum, JB Schroll, JC Velasquez, JD Olivier, JG Hall, Joan K. Morris, Johannes M. Luteijn, K Furu, K Furu, K Laine, K Palmsten, K Wisner, KA Lattimore, KA Yonkers, KA Yonkers, Kari Klungsøyr, Kenji Hashimoto, KF Huybrechts, KF Huybrechts, KJ Rothman, L Ban, L Colvin, LC Daws, LE Ross, LH Pedersen, LS Cohen, M Handal, M Menchetti, M Reis, M Reis, M Whitworth, MA Fischer, Margery Morgan, MC Angermeyer, ME Pierpont, MI Van Allen, MJ Sweeting, MM Werler, MM Yazdy, N Byatt, N Myles, NK Grote, O Stephansson, P Peters, P Willner, P Wogelius, PD Wadhwa, PD Wadhwa, PH Beardon, PM Dietz, R Bukowski, R Greenlees, R Ionescu-Ittu, R Simes, RA Charlton, RA Charlton, RA Lyons, RL Davis, S Alwan, S Alwan, S Alwan, S Gentile, S Gentile, S Golder, S Golder, S Greenland, S Grigoriadis, S Grigoriadis, S Grigoriadis, S Jordan, S Liu, S Maschi, S Nikfar, S Ray, S Räisänen, S Skurtveit, S Sljivic, SL Carmichael, Sue Jordan, T Kendrick, T Pearlstein, TF Oberlander, TF Oberlander, TF Oberlander, TM Knudsen, TS Tracy, TW Sadler, V Hendrick, Y Benjamini, Y Li   +143 more
core   +13 more sources

Moebius syndrome with macular hyperpigmentation, skeletal anomalies, and hypoplasia of pectoralis major muscle in an Egyptian child

Egyptian Journal of Medical Human Genetics, 2015
We report a 4 month old female infant, 3rd in order of birth of the first cousin consanguineous parents. The patient has congenital right facial nerve palsy, with asymmetry of facial expression during crying and difficulty in swallowing.
Rabah M. Shawky, Radwa Gamal, Shaimaa Abdelsattar Mohammad   +2 more
doaj   +1 more source

Study of congenital talipes equinovarus cases and its radiological correlation

National Journal of Clinical Anatomy, 2013
Background and aims : congenital talipes equinovarus (CTEV) or club foot is one of the most common congenital orthopaedic anomalies and is increasing day by day with the growing millions of this country.
Prabahita Baruah, Pradipta Ray Choudhury, K L Talukdar   +2 more
doaj   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Cross-evaluation of the therapeutical methods for idiopathic congenital clubfoot (talipes equinovarus): controversies regarding the tendocalcaneous tenotomy [PDF]

, 2010
OBJECTIVE: There has been a lot of discussion regarding the treatment of congenital clubfoot (talipes equinovarus,) and Posenti's methodology currently seems to be the most rational, offering high rates of satisfactory results when compared to Kite's ...
Andrade Júnior, Luiz Carlos de, Angelini, Felipe Bertelli, Blumetti, Francesco Camara, Chaim, Renan Moukbel, Dobashi, Eiffel Tsuyoshi, Pinto, Jose Antonio, Silva, Fabio Assunção e   +6 more
core   +3 more sources

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source