Results 71 to 80 of about 16,390 (254)

Quality of ultrasound biometry obtained by local health workers in a refugee camp on the Thai-Burmese border. [PDF]

, 2012
Objective: In a refugee camp on the Thai–Burmese border, accurate dating of pregnancy relies on ultrasound measurements obtained by locally trained health workers.
Dwell, SL, McGready, R, Mulder, EJ, Nosten, FH, Papageorghiou, AT, Paw, TK, Rijken, MJ, Thiptharakun, S, Visser, GH, Wah, N   +9 more
core   +2 more sources

Macrodactyly - a case report

National Journal of Clinical Anatomy, 2012
A case of macrodctyly of thumb and index fingers in a female aged fourteen years is reported here. This subject was found to have abnormally large thumb and index fingers of her right hand.
Arun Kumar S Bilodi
doaj   +1 more source

Clinical features and orbital anomalies in Fraser syndrome and a review of management options

Indian Journal of Ophthalmology, 2022
Purpose: Fraser syndrome is a rare congenital disorder comprising cryptophthalmos, syndactyly, and many times, urogenital anomalies. Herein, the authors aimed to study and report the clinical features and orbital anomalies in cases diagnosed with Fraser ...
Deepsekhar Das, Sujeeth Modaboyina, Sandton Raj, Sahil Agrawal, Mandeep Singh Bajaj   +4 more
doaj   +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

Genome-Wide Association Studies in Dogs and Humans Identify ADAMTS20 as a Risk Variant for Cleft Lip and Palate [PDF]

, 2015
Cleft lip with or without cleft palate (CL/P) is the most commonly occurring craniofacial birth defect. We provide insight into the genetic etiology of this birth defect by performing genome-wide association studies in two species: dogs and humans.
Arzi, B, Bannasch, DL, Brand, HA, Cox, TC, Deleyiannis, FWB, Feingold, E, Karmi, N, Leslie, EJ, Marazita, ML, McHenry, T, Murray, JC, Narayan, N, Safra, N, Sanchez, C, Shaffer, JR, Sliskovic, S, Wade, CM, Wang, X, Willet, CE, Wolf, ZT   +19 more
core   +5 more sources

Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes

The Journal of Physiology, EarlyView.
Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière, Thomas Boulin, Maëlle Jospin, Alexandre Janin, Gilles Millat, Philippe Chevalier, Olga Andrini   +6 more
wiley   +1 more source

Fingers Matter: The Development of Strategies for Solving Arithmetic Problems in Children With Apert Syndrome

Frontiers in Education, 2019
There is very little research on cognitive outcomes and challenges for children with Apert syndrome. This paper describes the findings of a 2½-year longitudinal exploration of the development of arithmetic skills in 10 children with Apert syndrome, who ...
Caroline Hilton
doaj   +1 more source

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. [PDF]

, 2014
Somatic mutations in the phosphatidylinositol/AKT/mTOR pathway cause segmental overgrowth disorders. Diagnostic descriptors associated with PIK3CA mutations include fibroadipose overgrowth (FAO), Hemihyperplasia multiple Lipomatosis (HHML), Congenital ...
Balasubramanian, M., Biesecker, L.G., Blumhorst, C., Braverman, N., Brennan, L.M., Chandler, K.E., Clark, R., Crow, Y.J., Cunningham, M.L., Darling, T., Fraser, J.L., Geer, J., Graham, J.M., Grant, I., Gucev, Z., Henderson, A., Huson, S.M., Jakkula, E., Keppler-Noreuil, K.M., Krishnamurty, V., Lindhurst, M.J., Parker, V.E., Pena, L.D., Sapp, J.C., Sellars, E.A., Semple, R.K., Shuen, A., Sutton, V.R., Tasic, V., Tosi, L.L., Whitehouse, R.W.   +30 more
core   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

New Classification of Polydactyly of the Foot on the Basis of Syndactylism, Axis Deviation, and Metatarsal Extent of Extra Digit

Archives of Plastic Surgery, 2013
Background Polydactyly of the foot is one of the most frequent anomalies of the limbs. However, most classification systems are based solely on morphology and tend to be inaccurate and less relevant to surgical methods and results.
Hyo Hyun Seok, Ji Ung Park, Sung Tack Kwon   +2 more
doaj   +1 more source