Results 71 to 80 of about 263,235 (193)

A Novel Homozygous Frameshift Variant in ZNF699 Associated With DEGCAGS Syndrome With Severe Transfusion‐Dependent Anemia in an Indian Child: A Case Report

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT In children with unexplained multisystem involvement—global developmental delay, dysmorphism, skeletal anomalies, and severe transfusion‐dependent anemia—especially from consanguineous families, whole‐exome sequencing should be pursued early to enable timely diagnosis, proactive iron chelation, and genetic counseling.
Arimanda Chaitanya Laasya Reddy, A. Vamshee Priya, Aditya Pachwa, Boilla Abhignya Reddy, Lakshya Nehal Samineni, Lanka Gourav Reddy   +5 more
wiley   +1 more source

Incidence and patterns of congenital talipes equinovarus (Clubfoot) deformity at Queen Elizabeth Central Hospital, Banter, Malawi [PDF]

, 2016
Background: Clubfoot is one of the most common externally visible congenital deformities recorded in Sub Saharan Africa. The main objective of this study was to assess the overall incidence of clubfoot deformity in neonates born at Queen Elizabeth ...
Mkandawire, NC, Kaunda, E
core   +1 more source

Current conservative management and classification of club foot: A review

Journal of Pediatric Rehabilitation Medicine, 2016
Clubfoot, known as congenital talipes equinovarus, is one of the complex paediatric foot deformity with the incidence of 1 in every 1000 live births. It consists of four complex foot abnormalities such as forefoot adductus, midfoot cavus, and hindfoot ...
Ganesan Balasankar, Ameersing Luximon, Adel Al-Jumaily   +2 more
doaj   +1 more source

Prevalence of Rare Diseases in Consanguineous Marriages: A Case of Ullrich Muscular Dystrophy in a Resource‐Limited Setting

Clinical Case Reports, Volume 14, Issue 10, October 2026.
Ullrich Muscular Dystrophy in Consanguineous Marriage. ABSTRACT In regions with high consanguinity, rare recessive disorders like Ullrich congenital muscular dystrophy (UCMD) may present at birth with hypotonia and respiratory distress. To enhance quality of life and prevent recurrence in future pregnancies, early recognition, genetic counseling, and ...
Kanza Farhan, Muhammad Burhan Tariq, Amna Farhan, Erma Khalid, Suhaira Hafeez Syed, Mohammed Hammad Jaber Amin   +5 more
wiley   +1 more source

Unclassified COL6A1 Variant in a Child With Congenital Hypotonia: A Case Report

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT We report a 3‐year‐old male with congenital hypotonia, proximal contractures, and distal hyperlaxity. Exome sequencing identified a novel homozygous COL6A1 variant (c.2821C>T), classified as a variant of uncertain significance. The distinct phenotype strongly supports Ullrich congenital muscular dystrophy, expanding the gene's mutational ...
Khadeeja Nofal, Hamza M. A. Ghaith, Haneen Abdullatif Barghouthi, Mohammad Shahrori, Batool Darraj, Anwar Abu Hetta   +5 more
wiley   +1 more source

The genetics of isolated and syndromic clubfoot

Journal of Children's Orthopaedics, 2019
Purpose Congenital clubfoot is a serious birth defect that affects nearly 0.1% of all births. Though there is strong evidence for a genetic basis of isolated clubfoot, aside from a handful of associations, much of the heritability remains unexplained ...
B. Sadler, C. A. Gurnett, M. B. Dobbs
doaj   +1 more source

CLUBFOOT RECCURENCES AFTER THE TREATMENT BY PONSETI

Travmatologiâ i Ortopediâ Rossii, 2013
Congenital clubfoot is one of the most frequent pathologies of the musculoskeletal system. The treating of clubfoot by Ponseti gives promising results and complete correction of the deformity in 90-95% of patients sparing them from extensive surgery.
V. F. Blandinskiy, M. A. Vavilov, I. V. Gromov   +2 more
doaj   +1 more source

The congenital clubfoot – immunohistological analysis of the extracellular matrix

, 2018
Arno Kerling,1 Gisela Stoltenburg-Didinger,2 Lena Grams,1 Uwe Tegtbur,1 Hauke Horstmann,1 Momme Kück,1 Holger Mellerowicz3 1Institute of Sports Medicine, Hannover Medical School, Hannover, Germany; 2Gisela Stoltenburg-Didinger, Institute of Cell and
Stoltenburg-Didinger G, Horstmann H, Grams L, Tegtbur U, Mellerowicz H, Kerling A, Kück M   +6 more
core  

Subjective and objective outcome in congenital clubfoot; a comparative study of 204 children [PDF]

, 2007
Background Outcome following management of congenital talipes equinovarus (clubfoot) can be assessed in a number of ways. Bjonness stated simply that "the patient is the final judge of whether he has a good foot"; a purely subjective assessment.
Simon Barker, Barker Simon, David Chesney, Chesney David, Nicola Maffulli, Maffulli Nicola   +5 more
core   +2 more sources

A rare accessory muscle as a less recognized factor in clubfoot recurrence: A systematic review and three cases presentation

Foot & Ankle Surgery: Techniques, Reports & Cases
Congenital Talipes Equinovarus or Clubfoot is the most common congenital foot malformation in newborns, with recurrence rates of 14–40 % despite optimal treatment.
Lubenga Ali Baba Athos, MD, Shchukin Andriy, MD, Beyer Benoît, PhD, Ngomba Wa Ilunga Sylvie, MD, Nyembo Selemani Emile, MD, Arung Kalau Willy, PhD, MD, Panda Mulefu Jules, PhD, MD, Dereymaeker Greta, PhD, MD, Van Sint Jan Serge, PhD   +8 more
doaj   +1 more source