Results 61 to 70 of about 4,694 (215)

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

Variation in WNT7A is unlikely to be a cause of familial Congenital Talipes Equinovarus-0

, 2011
Copyright information:Taken from "Variation in WNT7A is unlikely to be a cause of familial Congenital Talipes Equinovarus"http://www.biomedcentral.com/1471-2350/9/50BMC Medical Genetics 2008;9():50-50.Published online 6 Jun 2008PMCID:PMC2438341.
Sukhy Sahota (93716), Zosia Miedzybrodzka (93719), Amanda Cardy (93714), Guoqing Liu (93712), Linda Sharp (93718), Julie Inglis (93713), Raoul Hennekam (93717), Duncan Shaw (93715)   +7 more
core   +1 more source

Trisomy 5p with bilateral congenital diaphragmatic hernia: a case report

Journal of Medical Case Reports, 2021
Background Bilateral congenital diaphragmatic hernia (CDH) is very rare. A few studies have reported the pathogenic role of 5p in CDH. Case presentation A 23-year-old primigravida Japanese woman was referred for the following abnormal findings at 33 ...
Noriyuki Nakamura, Takafumi Ushida, Yoshinori Moriyama, Kenji Imai, Tomoko Nakano-Kobayashi, Satoko Osuka, Maki Goto, Hiroaki Kajiyama, Hideyuki Asada, Masahiro Hayakawa, Tomomi Kotani   +10 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

Variation in WNT7A is unlikely to be a cause of familial Congenital Talipes Equinovarus-1

, 2011
Copyright information:Taken from "Variation in WNT7A is unlikely to be a cause of familial Congenital Talipes Equinovarus"http://www.biomedcentral.com/1471-2350/9/50BMC Medical Genetics 2008;9():50-50.Published online 6 Jun 2008PMCID:PMC2438341.
Sukhy Sahota (93716), Zosia Miedzybrodzka (93719), Amanda Cardy (93714), Guoqing Liu (93712), Linda Sharp (93718), Julie Inglis (93713), Raoul Hennekam (93717), Duncan Shaw (93715)   +7 more
core   +1 more source

Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly

Case Reports in Genetics, 2017
Interstitial 17q24.1 or 17q24.2 deletions were reported after conventional cytogenetic analysis or chromosomal microarray analysis in patients presenting intellectual disability, facial dysmorphism, and/or malformations.
Marie-Emmanuelle Naud, Lucie Tosca, Jelena Martinovic, Julien Saada, Corinne Métay, Loïc Drévillon, Virginie Benoit, Sophie Brisset, Gérard Tachdjian   +8 more
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

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

Variation in WNT7A is unlikely to be a cause of familial Congenital Talipes Equinovarus-2

, 2011
Copyright information:Taken from "Variation in WNT7A is unlikely to be a cause of familial Congenital Talipes Equinovarus"http://www.biomedcentral.com/1471-2350/9/50BMC Medical Genetics 2008;9():50-50.Published online 6 Jun 2008PMCID:PMC2438341.
Sukhy Sahota (93716), Zosia Miedzybrodzka (93719), Amanda Cardy (93714), Guoqing Liu (93712), Linda Sharp (93718), Julie Inglis (93713), Raoul Hennekam (93717), Duncan Shaw (93715)   +7 more
core   +1 more source