Results 51 to 60 of about 4,878 (219)

Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly

Case Reports in Genetics, 2017
Interstitial 17q24.1 or 17q24.2 deletions were reported after conventional cytogenetic analysis or chromosomal microarray analysis in patients presenting intellectual disability, facial dysmorphism, and/or malformations.
Marie-Emmanuelle Naud, Lucie Tosca, Jelena Martinovic, Julien Saada, Corinne Métay, Loïc Drévillon, Virginie Benoit, Sophie Brisset, Gérard Tachdjian   +8 more
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

Freeman-Sheldon syndrome: A dental perspective

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2013
Freeman-Sheldon syndrome is a rare progressive myopathic disorder affecting the face, chest, and limbs. It is characterized by three basic abnormalities: microstomia with pouting lips, camptodactyly with ulnar deviation of the fingers, and talipes ...
Bijumon, Dexton A Johns
doaj   +1 more source

Accelerated versus conventional Ponseti protocol for the treatment of idiopathic talipes equinovarus deformity: A short term follow up in Iraq

Zanco Journal of Medical Sciences, 2021
Background and objective: The accelerated protocol of Ponseti method was suggested to shorten the period of treatment of the conventional one for the cases of talipes equinovarus deformity.
Jagar Omar Doski, Berivan Ibrahim Jamal Aqrawi   +1 more
doaj   +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

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

Talipes Equinovarus in newborn is it conservative or surgical

Acta Orthopaedica et Traumatologica Turcica, 2021
In 1989 at SSK Istanbul Hospiltal Orthopaedics and Traumatology clinic, we have confirmed talipes equinovarus deformity in twentyone feet of l2 newborns, by six weeks of age surgical approach indication according to Porter s and our two additional ...
Mustafa Caniklioglu, Nikola Azar, Mahmut U. Karli, Cuneyt Mirzanli, Onder Ofluoglu   +4 more
doaj   +2 more sources

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  

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

Australian Podiatry Research in Paediatrics: A Bibliometric Analysis

Journal of Foot and Ankle Research, Volume 19, Issue 1, March 2026.
ABSTRACT Background The purpose of this study was to undertake a bibliographic analysis of foot and lower leg research relating to paediatric podiatry by Australian or affiliated Australian authors. Methods The Scopus database search was conducted to identify all foot and lower limb research articles involving an Australian cohort of participants ...
Helen A. Banwell, Peta Tehan, Matthew Carroll, Cylie M. Williams   +3 more
wiley   +1 more source