Results 31 to 40 of about 9,762 (167)

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, EarlyView.
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

Streeter Dysplasia in Association with Cleft Palate: A Case Report [PDF]

Indian Journal of Neonatal Medicine and Research, 2015
Streeter dysplasia, a synonym of Amniotic Band Syndrome (ABS) is a wide spectrum of complex, controversial congenital anomalies. The disease varies in its severity which can range from a simple constriction ring to more severe and lethal forms like ...
Fairy Susan Varghese, Sunil Kumar Agarwalla, Shantanu Kumar Meher   +2 more
doaj   +1 more source

Loss of POGLUT2/3‐mediated O‐glucosylation produces lung and aortic phenotypes reminiscent of fibrillin1 mutants

Developmental Dynamics, EarlyView.
Abstract Background Fibrillins provide a scaffold for elastic fiber formation, which enables lung recoil and aortic compliance. Abnormal fibrillin microfibrils, as in Marfan syndrome, lead to enlarged alveoli, vascular stiffening, and aneurysms. Our earlier studies suggested that fibrillin function depends on O‐glucosylation of its epidermal growth ...
Sanjiv Neupane, Angelina Almiroudis, Kaitlyn E. Donnelly, Robert S. Haltiwanger, Bernadette C. Holdener   +4 more
wiley   +1 more source

Evaluation of hexagonal flap for Syndactyly repair

Zanco Journal of Medical Sciences
Background and objective: Syndactyly is among the most commonly treated hand anomalies by plastic surgeons. Since the 1800s,over 46 corrective procedures have been described.
Lavin Jawher Putris, Jalal Hamasalih Fattah   +1 more
doaj   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Epidemiology of congenital polydactyly and syndactyly in Hunan Province, China

BMC Pregnancy and Childbirth
Objective To describe the prevalence and epidemiology of congenital polydactyly and syndactyly in Hunan Province, China, 2016–2020. Methods Data were obtained from the Birth Defects Surveillance System in Hunan Province, China, 2016–2020.
Xu Zhou, Ting Li, Haiyan Kuang, Ying Zhou, Donghua Xie, Jian He, Juan Xiao, Chanchan Chen, Yurong Jiang, Junqun Fang, Hua Wang   +10 more
doaj   +1 more source

Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene (LRP4)

BMC Genetics, 2007
Background Isolated syndactyly in cattle, also known as mulefoot, is inherited as an autosomal recessive trait with variable penetrance in different cattle breeds.
Höltershinken Martin, Distl Ottmar, Tammen Imke, Harlizius Barbara, Leeb Tosso, Drögemüller Cord, Gentile Arcangelo, Duchesne Amandine, Eggen André   +8 more
doaj   +1 more source

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

AGRN‐, LRP4‐, MUSK‐Related CMS: Clinical, Neurophysiological, Morphological, Genetic and Pathological Mechanisms

Muscle &Nerve, EarlyView.
ABSTRACT Congenital myasthenic syndromes (CMS) are inherited disorders caused by mutations in genes encoding proteins essential for neuromuscular junction (NMJ) function. Pathogenic variants have been identified in more than 35 genes, underscoring the complexity of synaptic biology and the wide range of mechanisms that can compromise neuromuscular ...
Rocio‐Nur Villar‐Quiles, Damien Sternberg, Marie‐Christine Nougues, Arnaud Isapof, Bruno Eymard, Stéphanie Bauché   +5 more
wiley   +1 more source

Treatment of congenital deformities of cleft foot and syndactyly: A case report and review of the literature

Turkish Journal of Plastic Surgery
Cleft foot is a rare congenital anomaly characterized by a central conical defect and deficiency of the foot rays. Syndactyly is the fusion of the skin with or without the bone of adjacent digits, and it may be associated with syndrome-related cleft foot.
Nuh Evin, Yasir Vural, Can Koç, Gökçer Uzer   +3 more
doaj   +1 more source