Results 21 to 30 of about 4,542 (216)

Clinical characteristics and MTMR13/SBF2 gene mutation analysis of a Charcot - Marie-Tooth disease type 4B2 Chinese family

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Objective To explore the clinical features and genetic characteristics of Charcot-Marie-Tooth disease type 4B2 (CMT4B2) patients. Methods MTMR13/SBF2 gene mutations were screened by target region capture sequencing among a CMT4B2 Chinese family which ...
Yu-ling ZHU, Huan LI, Zhi-liang PAN, Ying-yin LIANG, Jing LI, Ruo-jie HE, Jin-fu LIN, Cheng ZHANG   +7 more
doaj   +1 more source

Evaluation of Epidemiological and Genetic Risk Factors Associated with Idiopathic Congenital Talipes Equinovarus in the South Indian Population

GAIMS Journal of Medical Sciences, 2023
Background: The heterogeneity between studies in reported risk factors for Congenital Talipes Equinovarus (CTEV) may be due to many factors including definitions of CTEV, whether non-idiopathic cases are included, differences in study ...
Naveenkumar Patil
doaj   +1 more source

Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia

Molecular Genetics and Metabolism Reports, 2014
Congenital Disorder of Glycosylation type Ig (ALG12-CDG) is part of a group of autosomal recessive conditions caused by deficiency of proteins involved in the assembly of dolichol-oligosaccharides used for protein N-glycosylation.
Chaya Murali, James T. Lu, Mahim Jain, David S. Liu, Ralph Lachman, Richard A. Gibbs, Brendan H. Lee, Daniel Cohn, Philippe M. Campeau   +8 more
doaj   +1 more source

Treatment of congenital idiopathic talipes equinovarus with the Ponseti method [PDF]

The Egyptian Orthopaedic Journal, 2013
IntroductionCongenital idiopathic talipes equinovarus (clubfoot) is a complex deformity that can always be treated conservatively if the right technique is followed.
Labib Abd El-latief, Ismaaiel Yassin, Ali Algushiy, Ahmad Khamis   +3 more
doaj   +1 more source

Magnetic Resonance Imaging of Clubfoot Treated With the Ponseti Method: A Short-Term Outcome Study

Frontiers in Pediatrics, 2022
ObjectiveTo quantitatively evaluate the effectiveness of the Ponseti method for the correction of clubfoot, we decided to use magnetic resonance imaging (MRI) to evaluate changes in the tarsal bone relationship.MethodsThis is a retrospective study of ...
Jiangchao Zhang, Ningqing Wang, Haixiang Lv, Zhenjiang Liu   +3 more
doaj   +1 more source

What a paediatrician should know about congenital clubfoot

Italian Journal of Pediatrics, 2020
Clubfoot is the most frequent congenital malformation of the foot, affecting more than 1–2 subjects per 1.000 newborns. Without appropriate treatment, a child with congenital clubfoot will never be able to walk physiologically with a dramatic impact on ...
Daniela Dibello, Valentina Di Carlo, Giulia Colin, Egidio Barbi, Anna M. C. Galimberti   +4 more
doaj   +1 more source

Agenesis of the Corpus Callosum and Skeletal Deformities in Two Unrelated Patients: Analysis via MRI and Radiography

Case Reports in Orthopedics, 2014
Purpose. Mental retardation, mild to severe epilepsy and cerebral palsy often of hemiplegic type are common accompaniments in patients with agenesis/hypoplasia of the corpus callosum.
Ali Al Kaissi, Herbert Kurz, Wolfgang Bock, Gerald Pärtan, Klaus Klaushofer, Rudolf Ganger, Franz Grill   +6 more
doaj   +1 more source

Apoptotic gene analysis in idiopathic talipes equinovarus (clubfoot)

, 2007
Idiopathic talipes equinovarus, also known as clubfoot, is a common birth defect occurring in one of 1000 live births. It is a complex disorder in which multiple genes and environmental factors may play an etiologic role.
Blanton, Susan H, Wise, Carol A, Ester, Audrey R, Tyerman, Gayle, Hecht, Jacqueline T   +4 more
core   +1 more source

Ruptured meningomyelocele reconstructed with rhombic flap

Journal of Pediatric Surgery Case Reports, 2022
Meningomyelocele (MMC) is one of the adverse birth outcomes in Jamaica related to a low socioeconomic status and health care limitations.We present a case of a male neonate with a ruptured lumbar MMC, hydrocephalus, Chiari type 2 malformation and talipes
Geoffrey Williams, Gabriella Diaz
doaj   +1 more source

Prevalence of Congenital Talipes Equinovarus in Sub-Saharan Africa: A systematic review and meta-analyses

Journal of Orthopaedic Reports
Background: Clubfoot has been identified as one of the common congenital malformations that experience an immense physical, social, and economic load throughout the life course.
Chalachew Tiruneh Yirdaw, Mohammadreza Akbarian Khorasgani, Pouriya Katouzi, Abdulraheem Al-Hajj, Abdulaziz Al-Hajj   +4 more
doaj   +1 more source