Results 91 to 100 of about 1,948 (197)

Rapid Whole Genome Sequencing Uncovers a Triple Diagnosis: X‐Linked Chondrodysplasia Punctata, MECP2‐Related Disorder, and Mosaic Jacobs Syndrome

Molecular Genetics &Genomic Medicine, Volume 13, Issue 2, February 2025.
Neonate was found to have X‐linked chondrodysplasia punctata, MECP2‐related disorder, and mosaic Jacobs syndrome, highlighting the utility of advanced genetic testing in directing neonatal care and the complexity of managing multiple genetic diagnoses, while also adding to our understanding of the MECP2‐related disorder phenotypes in boys.
Megan Samuels, Kathleen Shields, Paul Hillman, Laura Farach   +3 more
wiley   +1 more source

Motor abilities in 182 children treated for idiopathic clubfoot: A comparison between the traditional and the Ponseti method and controls

Journal of Children's Orthopaedics, 2018
Purpose The aim of the study was to examine motor abilities in children treated for idiopathic clubfoot with either the traditional extensive surgery method or the Ponseti method, and compare their motor skills with a control group without clubfoot ...
V. S. Aulie, V. B. Halvorsen, J. I. Brox
doaj   +1 more source

Overcoming Barriers: A Study on Family Experiences and Treatment Adherence in Congenital Talipes Equinovarus in Kutch District, Gujarat [PDF]

Journal of Orthopedics and Joint Surgery
Background: The Ponseti method is widely recognized as the gold standard for managing congenital clubfoot, offering an effective, low-cost alternative to surgical interventions.
Vishal Pushkarna, Daxesh J Patel, Tej S Rudani   +2 more
doaj   +1 more source

Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur–Chung neurodevelopmental syndrome

American Journal of Medical Genetics Part A, Volume 194, Issue 9, September 2024.
Abstract The autosomal dominant Okur–Chung neurodevelopmental syndrome (OCNDS: OMIM #617062) is a rare neurodevelopmental disorder first described in 2016. Features include developmental delay (DD), intellectual disability (ID), behavioral problems, hypotonia, language deficits, congenital heart abnormalities, and non‐specific dysmorphic facial ...
Albin Blanc, Céline Bonnet, Marion Wandzel, Virginie Roth, Yannis Duffourd, Hanna Safraou, Bruno Leheup, Florence Muller, Julie D Colne, François Feillet, Emmanuelle Schmitt, Matheus Castro, Jullian Savatt, Adriano Burcheri, Christophe Nemos, Christophe Philippe, Laëtitia Lambert   +16 more
wiley   +1 more source

Congenital Clubfoot Treated with the Ponseti Method

The Journal of the Korean Orthopaedic Association, 2009
Purpose: This study examined the Ponseti method for the nonsurgical treatment of a congenital clubfoot. Materials and Methods: A total of 35 patients (52 clubfeet) were evaluated. All patients were treated by serial manipulation and casting as described by Ponseti.
Jong Sup Shim, Sung Wook Seo, Chang Young Kim, Chulhee Jung   +3 more
openaire   +1 more source

Ponseti Technique for the Management of Congenital Talipes Equinovarus in a Rural Set-Up in India: Experience of 356 Patients

Children, 2018
Congenital talipes equinovarus (CTEV), also known as clubfoot, is a complex congenital deformity of the foot that, left untreated, can limit a person’s mobility by making it difficult and painful to walk. Worldwide, 80% of children born with clubfoot are
Rohit Malhotra, Ashutosh Mohapatra, Geetika Arora, Priyam Choudhury, Hitesh Joshi, Pranav Patel   +5 more
doaj   +1 more source

Investigating the association between vitamin D dietary intake during pregnancy and incidence of clubfoot in neonates

Birth Defects Research, Volume 116, Issue 1, January 2024.
Abstract Aims Talipes equinovarus (clubfoot) is a congenital lower foot deformity that results from a neuromuscular deficiency, but the precise etiology remains elusive. Vitamin D is important for fetal neuromuscular development. In this study, we investigated the association between dietary vitamin D intake during pregnancy and incidence of clubfoot ...
Haitham T. Idriss, Martha M. Werler
wiley   +1 more source

MANAGEMENT OF ATYPICAL CLUBFOOT BY PONSETI METHOD

Traumatology and Orthopedics of Russia, 2010
From May 2006 to August 2009 analyzed 28 clinical observations (34 feet) for children aged from 7 days to 1.5 years with severe atypical congenital clubfoot (Pirani 5,6 points), treated by the method of I. Ponseti. The average number of gypsum one foot to the full correction was - 6.3. It was written 38 achillotomy.
V. F. Blandinsky, M. A. Vavilov, T. E. Torno, A. V. Donskoy   +3 more
openaire   +3 more sources

COL1A1 regulates the apoptosis of embryonic stem cells by mediating the PITX1/TBX4 signaling

Birth Defects Research, Volume 116, Issue 1, January 2024.
Abstract Purpose The purpose of this study is to explore the regulatory function of COL1A1 against the apoptosis of embryonic stem cells (ESCs) and the potential function in congenital talipes equinovarus (CTEV). Methods Muscle tissues were collected from 20 children with CTEV and 20 children without CTEV, followed by detecting the expression of COL1A1
Xiangping Du, Xinle Wu, Lirong Yu, Wu Min, Gan Chen, Fadi Liu, Jian Li   +6 more
wiley   +1 more source

Treatment of Congenital Talipes Equinovarus using Accelerated Ponseti Method by Fast Casting and Needle Tenotomy [PDF]

International Journal of Medical Arts
Background: Congenital Talipes Equinovarus [CTEV] or clubfoot is a common orthopedic deformity that if untreated, leads to significant functional impairment.
Abdullah Taha, Ammar Abd Elhamid, Osman Mohamed   +2 more
doaj   +1 more source