Results 51 to 60 of about 4,149 (222)

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

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

Variant Update on ASCC1 : Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 744-748, March 2026.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit, L. Kerbellec, D. Laurenceau, D. C. Ung, M. P. Moizard, N. Ronce, P. Gueguen, F. Laumonnier, A. C. Bréhin, F. Marguet, A. Laquerrière, A. M. Bergemer Fouquet, J. Cirier, S. Blesson, S. Arpin, M. Jeanne, M. L. Vuillaume   +16 more
wiley   +1 more source

The developmental and genetic basis of 'clubfoot' in the peroneal muscular atrophy mutant mouse [PDF]

, 2018
ACKNOWLEDGEMENTS We thank Professors Cheryll Tickle and Françoise Helmbacher for discussion and reagents. We thank staff at the Aberdeen Medical Research Facility for specialist technical assistance.Peer reviewedPublisher ...
Alvarado, Alvarado, Ashby, Bandyopadhyay, Basit, Bayarsaihan, Bechtol, Bubb, Capossela, Cartlidge, Chantranupong, Chapman, de Andrade, Deng, Dickinson, Dittrich, Dobbs, Dobbs, Duce, Duce, Dupressoir, Edmonds, Endo, Enkhmandakh, Ester, Flynn, Francke, Gallo, Gurnett, Hamburger, Hecht, Heck, Helmbacher, Hoogenraad, Hoogenraad, Hoogenraad, Huang, Ippolito, Isaacs, Iwaki, Jackson, Jessell, Kania, Kao, Katoh, Kawano, Kramer, Landmesser, Li, Li, Lindström, Liu, Lu, Maekawa, McKenna, Meng, Miedzybrodzka, Morris, Nakamura, Nonaka, Odani, Ohno, Palmer, Palmer, Peterson, Phan, Ponseti, Porter, Rebbeck, Rosso, Sahin, Sarmiere, Sharp, Song, Stewart, Sumi, Tarchini, Torniero, Tursun, Van der Aa, VanderMeer, Wagenseil, Wang, Wang, Wen, Weymouth, Yang, Yang, Yoshioka   +88 more
core   +5 more sources

The classification of congenital talipes equinovarus [PDF]

The Journal of Bone and Joint Surgery. British volume, 2002
We have assessed the reliability of four classification systems for club foot. Four observers evaluated nine children (18 feet) at different stages in the first six months of life, a total of 180 examinations. Each observer independently assessed all feet according to the classification systems described by Catterall, Diméglio et al, Harrold and ...
Andrew M, Wainwright, Tanya, Auld, Michael K, Benson, Tim N, Theologis   +3 more
openaire   +2 more sources

Human‐Centered Design of a Contextualized Service Delivery Model for Families of Infants With Major Congenital Anomalies in Kenya

Birth Defects Research, Volume 118, Issue 2, February 2026.
ABSTRACT Background Congenital anomalies (CAs) are a major cause of childhood mortality and disability in low‐ and middle‐income countries. Our study explored caregiver experiences of infants with major CAs in Kenya and co‐developed interventions using human‐centered design (HCD).
Audrey Chepkemoi, Molly McPheron, Violet Naanyu, James G. Carlucci, Caroline Kerich, Winnie Matelong, Harold Kooreman, Megan S. McHenry, Caitlin Bernard, Marylydia Kiano, Roselyn Midiwo, Beverly Musick, Constantin T. Yiannoutsos, Kara Wools‐Kaloustian, Rena C. Patel, Edwin Were, John M. Humphrey, on behalf of EA‐IeDEA consortium   +17 more
wiley   +1 more source

Tratamiento fisioterapeutico en el pie equino varo congénito [PDF]

, 2019
INTRODUCCIÓN: El pie equino varo congénito, también conocido como el pie zambo, es una deformidad congénita compleja del miembro inferior de etiología desconocida, aunque hay múltiples factores que pueden estar implicados en ella.
Iriondo Larrain, Ane
core  

Soft-tissue abnormalities associated with treatment-resistant and treatment-responsive clubfoot: Findings of MRI analysis [PDF]

, 2014
BACKGROUND: Clubfoot treatment commonly fails and often results in impaired quality of life. An understanding of the soft-tissue abnormalities associated with both treatment-responsive and treatment-resistant clubfoot is important to improving the ...
Aferol, Hyuliya, Commean, Paul K., Dobbs, Matthew B., Gurnett, Christina A., Moon, Daniel K., Siegel, Marilyn J.   +5 more
core   +2 more sources

Comorbidities at MS Diagnosis and Their Association With Treatment Persistence: Real‐World Clinical Data

Brain and Behavior, Volume 16, Issue 2, February 2026.
Comorbidity was present in approximately half of the patients with relapsing‐remitting multiple sclerosis in this Finnish cross‐sectional cohort. Comorbidities, especially psychiatric diseases, were associated with lower persistence on injectable disease‐modifying treatments.
Henrik Ahvenjärvi, Ida Lund, Anne M. Portaankorva, Johanna Krüger, Mervi Ryytty   +4 more
wiley   +1 more source

Peters anomaly with post axial polydactyly, bilateral camptodactyly and club foot in a Kenyan neonate: a case report [PDF]

, 2012
Introduction A case of bilateral Peters anomaly with bilateral post axial polydactyly, bilateral camptodactyly, and club foot was examined in a neonatal Kenyan baby girl of African descent who had been delivered in the hospital and admitted to the ...
Aruyaru Stanley Mwenda
core   +2 more sources