Results 41 to 50 of about 1,395 (175)

Determinants for Congenital Clubfoot in Ethiopia: A Case‐Control Study at Black Lion Specialized Hospital

Health Science Reports, Volume 9, Issue 4, April 2026.
ABSTRACT Background Clubfoot is a frequently occurring congenital deformity and continues to be overlooked public health concern, especially among children under‐fives year old in low and middle‐income countries, where approximately 90% of cases occur in these developing world.
Seid Mohammed Abdu, Birhanu Ayana, Girma Seyoum   +2 more
wiley   +1 more source

The Incremental Yield of CMA Over Karyotype in Fetal Growth Restriction—A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, Volume 46, Issue 1, Page 56-74, January 2026.
ABSTRACT The main objective of our study was to conduct a systematic literature review and a meta‐analysis to evaluate the incremental yield of chromosomal microarray analysis compared with karyotyping in cases of fetal growth restriction. Our review was designed according to the PRISMA guidelines.
Ioakeim Sapantzoglou, Evangelia Kontogeorgi, Vasilios Pergialiotis, Konstantinos Tasias, Angeliki Rouvali, Afroditi Pegkou, Marianna Theodora, Georgios Daskalakis, Panagiotis Antsaklis   +8 more
wiley   +1 more source

From Misdiagnosis to Genetic Confirmation: A Brazilian Familial Report of Camptodactyly–Arthropathy–Coxa Vara–Pericarditis Syndrome—A Case‐Based Review

Case Reports in Pediatrics, Volume 2026, Issue 1, 2026.
Background Camptodactyly–arthropathy–coxa vara–pericarditis (CACP) syndrome is a rare autosomal recessive disorder caused by PRG4 mutations that impair lubricin production. Resulting noninflammatory hyperplasia produces congenital or early‐onset camptodactyly and noninflammatory arthropathy, affecting large joints.
Ana Luiza Garcia Cunha, Isabela Tavares Barretos Matias, Matheus Santos França, Joziele de Souza Lima, Andrea Scaramuzza   +4 more
wiley   +1 more source

Complex Genomic Rearrangement Involving the TBX4 Promoter Manifesting With Variable Expressivity in a Five‐Generation Family

Human Mutation, Volume 2026, Issue 1, 2026.
Variants involving TBX4 are associated with ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension (ICPPS; also known as small patella syndrome), pulmonary arterial hypertension (PAH), and lethal lung developmental disorders.
Shruti A. Pande, Hiuling Chan Joiner, Przemyslaw Szafranski, Tomasz Gambin, Frank P. Edenborough, Rachael E. Thompson, Michael J. Parker, Carrie Hammond, Shahin Moledina, Justyna A. Karolak, Pawel Stankiewicz, Miklos Sahin -Toth   +11 more
wiley   +1 more source

Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular Basis

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT Chondrocalcinosis (CCAL), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is a frequent multifactorial condition in the elderly, but there are two rare autosomal dominant Mendelian forms, CCAL1 (OMIM %600668) and CCAL2. Only three families with molecularly proven CCAL1 have been reported.
Anna‐Christina Pansa, Mareike Selig, Markus Wingendorf, Matthew A. Brown, Oliver Bartsch   +4 more
wiley   +1 more source

Prevalence and pattern of congenital clubfoot among less than 5-year-old children in Ethiopia; cross-sectional based study

BMC Musculoskeletal Disorders
Background Clubfoot is one of the most common congenital malformations, but it is also one of the most neglected public health problems among less than five-year-old children, mainly in middle- and low-income countries.
Seid Mohammed Abdu, Girma Seyoum, Birhanu Ayana   +2 more
doaj   +1 more source

Alternative Splicing: Molecular Mechanisms, Biological Functions, Diseases, and Potential Therapeutic Targets

MedComm, Volume 6, Issue 12, December 2025.
Alternative splicing (AS) expands proteomic diversity and functional complexity in eukaryotes, regulated by spliceosomal components, RNA elements, and epigenetic modifications. Dysregulated AS contributes to diseases, including cancer, neurodegenerative disorders, and cardiovascular conditions, among others. Therapeutic interventions, such as antisense
Zhi‐Min Zhu, Xiao‐Mei Wu, Yan Hu, Xiao‐Lan Bian, Ya‐Qin Wang, Qiong‐Ni Zhu   +5 more
wiley   +1 more source

APPLICATION OF I.PONSETI TECHNIQUE IN SURGICAL TREATMENT OF CONGENITAL CLUBFOOT IN CHILDREN

Ukrainian Scientific Medical Youth Journal, 2019
Summary. One of the most common malformation of the musculoskeletal system in children is congenital clubfoot, which occurs from 2 to 5 cases per 1000 newborns.
Oleksii Holubenko, Anatolii Levytskyi, Oleksandr Karabeniuk   +2 more
doaj   +1 more source

Pulmonary Arterial Hypertension Onset in an Adult Woman With a TBX4 Likely Pathogenic Variant Following Imatinib Administration: A Case Report

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT The TBX4 gene has a critical importance in the development of the lower limbs and lungs. Pathogenic variants in this gene are associated with a variable spectrum of skeletal anomalies of the lower limb and pneumological manifestations, with dominant or recessive inheritance.
Simone Carbonera, Laura Scelsi, Alessandra Greco, Sandra Schirinzi, Annalisa Turco, Antonella Casella, Marta Carboni, Gaia Visani, Mauro Acquaro, Stefano Ghio, Silvia Kalantari, Enza Maria Valente, Fabio Sirchia   +12 more
wiley   +1 more source

The Relationship Between Developmental Dysplasia of the Hip (DDH) and Congenital Talipes Equinovarus (CTEV)—A Retrospective Case Series

Journal of Paediatrics and Child Health, Volume 61, Issue 7, Page 1116-1121, July 2025.
ABSTRACT Backgrounds There is no consensus if a relationship exists between idiopathic congenital talipes equinovarus (CTEV) and developmental dysplasia of the hip (DDH). Our research aim was to provide a contemporary Australian population statistical relationship between DDH and idiopathic CTEV, compared to published data.
Andrew Gorrie, Natalie Tannos, Dean Morris, Andrew Leicester, Jeffrey S. Ling, Arnold Suzuki, Samya Lakis   +6 more
wiley   +1 more source