Results 71 to 80 of about 4,542 (216)

An evaluation of congenital talipes equinovarus patients treated by various methods [PDF]

, 2020
Background: Idiopathic congenital talipes equinovarus is one of the commonest congenital anomaly. Although treatment provides many options, near universal agreement exists that initial management should consist of gentle manipulation of the affected foot.
Sharma, Mohit, Goel, Navneet, Goyal, Ashish   +2 more
core   +1 more source

Differential Transcriptome Analysis of Intrauterine UPD6pat Fetuses With Distinct Phenotypes

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Paternal uniparental disomy of chromosome 6 (UPD6pat) is associated with transient neonatal diabetes mellitus and multisystem developmental anomalies, but the mechanisms underlying its phenotypic variability remain unclear. This study integrates amniotic fluid cfRNA transcriptome analysis and molecular diagnostics, identifying 372 differentially ...
Jiahui Yu, Yan Zhang, Wenlong Shen, Jun Ying, Huanzheng Li, Xiaohua Tang, Xujun He   +6 more
wiley   +1 more source

A national survey of musculoskeletal impairment in Rwanda: prevalence, causes and service implications. [PDF]

, 2008
BACKGROUND: Accurate information on the prevalence and causes of musculoskeletal impairment (MSI) is lacking in low income countries. We present a new survey methodology that is based on sound epidemiological principles and is linked to the World Health ...
Rischewski, D, Simms, V, Nuhi, Assuman, Rischewski Dorothea, Foster, Allen, Kuper Hannah, Foster, A, Dorothea Rischewski, Allen Foster, Atijosan Oluwarantimi, Linganwa, Bonaventure, Linganwa, B, Lavy, Christopher, Hannah Kuper, Nuhi, A, Atijosan, Oluwarantimi, Linganwa Bonaventure, Simms, Victoria, Bonaventure Linganwa, Nuhi Assuman, Lavy, C, Victoria Simms, Lavy, Chris, Simms Victoria, Kuper, Hannah, Kuper, H, Atijosan, O, Assuman Nuhi, Rischewski, Dorothea, Foster Allen, Lavy Chris, Oluwarantimi Atijosan, Chris Lavy   +32 more
core   +2 more sources

Phenotypic Refinement of ESAM‐Related Tight‐Junctionopathy: Novel Genetic and Ocular Findings and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Overview of neurological, ocular, and genetic findings in individuals with bi‐allelic loss‐of‐function (LoF) ESAM variants. All affected subjects (n = 21) exhibited characteristic neurovascular and neurodevelopmental anomalies, while 45% also showed ocular (mainly retinal) involvement.
Mauro Lecca, Chiara Bosetti, Federico Ruoli, Liviana Fontanel, Marco Mazza, Enza Maria Valente, Roberta Battini, Edoardo Errichiello   +7 more
wiley   +1 more source

C syndrome with skeletal anomalies, mental retardation, eyelid chalazion, Bitot’s spots and agenesis of the corpus callosum in an Egyptian child

Egyptian Journal of Medical Human Genetics, 2017
We report a 2.5 year old female child, third in order of birth of healthy non consanguineous Egyptian parents with C syndrome. The patient had moderate mental retardation, trigonocephaly, protruding forehead, low anterior hair line, wide upslanted ...
Rabah M. Shawky, Radwa Gamal
doaj   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1156-1161, May 2026.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Congenital talipes equinovarus: I. Resolving and resistant deformities

, 1987
Comparisons were made between 54 children with resolving congenital talipes equinovarus deformity and 81 children whose feet required surgical correction.
RW Porter
core   +1 more source

The EUROmediCAT Network and Databases: A Resource for Pharmacovigilance in Pregnancy

Pharmacoepidemiology and Drug Safety, Volume 35, Issue 5, May 2026.
ABSTRACT Background The evidence gap relating to the risk of congenital anomalies (CA) associated with first trimester medication exposure in pregnancy is well recognized. Aims We describe the EUROmediCAT network and databases, and the methodological approach to pregnancy pharmacovigilance.
Helen Dolk, Christine Damase‐Michel, Joan Morris, Amanda Neville, Ester Garne, Sue Jordan, Anke Rissmann, Alessio Coi, Deirdre Folan, Dieuwke Broekstra, Jennifer M. Broughan, Lea Bruneau, Clara Cavero‐Carbonell, Elly den Hond, Miriam Gatt, Mika Gissler, Babak Khoshnood, Anna Latos Bielenska, Hedvig Nordeng, Ljubica Odak, Mary O'Mahony, Isabelle Perthus, J. Luke Richardson, Florence Rouget, Joanna Sichitiu, David Tucker, Natalya Zymak‐Zakutnya, Maria Loane   +27 more
wiley   +1 more source

Musculoskeletal impairment survey in Rwanda: design of survey tool, survey methodology, and results of the pilot study (a cross sectional survey). [PDF]

, 2007
BACKGROUND: Musculoskeletal impairment (MSI) is an important cause of morbidity and mortality worldwide, especially in developing countries. Prevalence studies for MSI in the developing world have used varying methodologies and are seldom directly ...
Rischewski, D, Simms, V, Lavy, C, Rischewski Dorothea, Victoria Simms, Christopher Lavy, Kuper Hannah, Lavy Christopher, Simms Victoria, Atijosan Oluwarantimi, Dorothea Rischewski, Kuper, Hannah, Lavy, Christopher, Kuper, H, Hannah Kuper, Atijosan, O, Rischewski, Dorothea, Atijosan, Oluwarantimi, Simms, Victoria, Oluwarantimi Atijosan   +19 more
core   +2 more sources

Evaluation of Ponseti technique for the management of congenital talipes equinovarus [PDF]

, 2022
Background: Congenital talipes equinovarus (CTEV), also known as Clubfoot, is a complicated congenital malformation of the foot that, if left untreated, can limit a person's mobility by making walking difficult and painful. Low- and middle-income nations
Pankaj Rathod, Unnati S. Asari, Ashish H. Kharadi, Preeti A Shah, Shalin Brambhatt   +4 more
core   +1 more source