Results 41 to 50 of about 4,542 (216)

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy

Clinical Genetics, EarlyView.
PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady, Hadar Hulin Ma'ayan, Michal Cohen, Karin Weiss   +3 more
wiley   +1 more source

Tibial torsion measured by ultrasound in children with talipes equinovarus

, 1991
Previous clinical studies have studied tibiofibular torsion by measuring the angular difference between a proximal (often bicondylar) plane and a distal bimalleolar plane.
JC Theis, M Krishna, A Sprigg, R Evans, JF Taylor   +4 more
core   +1 more source

Clinical Presentation of Congenital Talipes Equinovarus via Detailed Case Scenarios

Journal of Bone and Joint Diseases, 2021
Background: Clubfoot is a developmental deformity stirring at ankle, sub-taloid, and metatarsal joints. This deformity includes three elements: the foot inversion; forefoot-adduction relative to the hindfoot; and equinus position.
Vaishnavi Pandey, Ajai Singh, Amit Kumar Gond, Archana Raikwar, Salma Siddiqui, Sabir Ali   +5 more
doaj   +1 more source

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 10, Page 1950-1964, October 2026.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

Multidisciplinary management of clubfeet using the Ponseti method in a district general hospital setting

Journal of Children's Orthopaedics, 2008
Purpose Idiopathic congenital talipes equinovarus (CTEV) is a relatively common complex deformity of the foot that can be successfully managed by the Ponseti method.
Rebecca Kampa, Katherine Binks, Mia Dunkley, Christopher Coates   +3 more
doaj   +1 more source

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, Volume 92, Issue 9, Page 3037-3048, September 2026.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source

PENATALAKSANAAN FISIOTERAPI PADA GANGGUAN POLA BERJALAN AKIBAT CONGENITAL TALIPES EQUINOVARUS DI YPAC KOTA MAKASSAR: Physiotherapy Management of Gait Pattern Disorders caused by Congenital Talipes Equinovarus in YPAC, Makassar City

, 2022
Congenital talipes equinovarus merupakan kelainan bawaan pada kaki dan pergelangan kaki yang berupa deformitas inversi, kombinasi equines dan varus dari kaki belakang, serta adduksi dari sendi subtalar dan midtarsal.
Anshar, Anshar, Erawan, Tiar, Thahir, Muhammad, Muthiah, Siti, Lisnawati, Lisnawati   +4 more
core   +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

Outcomes of the Clubfoot Treatment with the Ponseti Method: Recurrence and Prognostic Factors

Journal of Orthopedic and Spine Trauma, 2022
Background: Clubfoot is a multifactorial disease with the prevalence of one in 1000 live births. The presentations of clubfoot are forefoot adductus, hindfoot varus, cavus, and equinus.
Arash Maleki, Seyed Reza Aghapour, Abaalfadel abbas saleh   +2 more
doaj   +1 more source

Late Recognition of Suspected Ehlers‐Danlos Syndrome After Recurrent Small‐Bowel Perforations: A Case Report

Journal of General and Family Medicine, Volume 27, Issue 5, September 2026.
ABSTRACT Background Ehlers‐Danlos syndrome (EDS) may be overlooked when gastrointestinal and musculoskeletal findings are assessed separately. Case Presentation An older woman with two previous small‐bowel perforations had bilateral congenital hip dislocation, recurrent shoulder dislocations, skin hyperextensibility, and muscularis propria thinning in ...
Norio Horiguchi, Etsuko Hisanaga, Hiroko Sato, Kuniko Yoshida, Akihito Kimura, Ayumi Ito, Miki Horita, Aya Suzuki, Keiko Kawai‐Kowase   +8 more
wiley   +1 more source