Results 51 to 60 of about 9,987 (133)

A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith‐Lemli‐Opitz Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Smith‐Lemli‐Opitz syndrome (SLOS) is an autosomal recessive disorder caused by pathogenic variants in the DHCR7 gene. Based on our observations and a review of the literature, we demonstrate that the NM_001360.2(DHCR7):c.89G>C p.(Gly30Ala) variant is associated with a mild SLOS phenotype.
Júlia Martinková, Emílie Vyhnálková, Martin Schwarz, Miroslava Balaščaková, Veronika Biddle, Romana Borská, Lenka Fajkusová, Lukáš Ryba, Anna Křepelová   +8 more
wiley   +1 more source

Agenesis and lipoma of corpus callosum: Case report Agenesia e lipoma de corpo caloso: relato de caso

Arquivos de Neuro-Psiquiatria, 1995
The agenesis and lipoma of the corpus callosum is a very rare association. We report the case of a 18-years old woman with rare epileptic seizures since the age of 6 years, normal neurological examination, as well as normal electroencephalogram.
Délrio Façanha Silva, Márcia Marques Lima, César O. Oliveira, William N. Oliveira, Renato Anghinah, José Geraldo Camargo Lima   +5 more
doaj   +1 more source

Changing trends in prenatal screening and treatment of cytomegalovirus infection in France: 7‐year national cohort study (2017–2023)

Ultrasound in Obstetrics &Gynecology, Volume 67, Issue 6, Page 756-763, June 2026.
ABSTRACT Objectives Cytomegalovirus (CMV) is the leading cause of congenital infectious neurosensory impairment. We aimed to present national epidemiological data on maternal CMV infection during pregnancy in France, focusing in particular on primary infection in the periconceptional period or first trimester, and to assess the impact of changes in ...
P. Coste‐Mazeau, E. Ribot, S. Hantz, Y. Ville, M. Leruez‐Ville, S. Alain, the French Congenital Infection database group, Maeva Anciaux, Laurent Andreoletti, Julie Arata‐Bardet, Carine Arlicot, Dominique Astruc, Jocelyne Attia, Marie‐Stéphanie Aubelle, Christelle Auvray, Bassel Bachour, Sonanda Bailleux, Nathalie Banaszkiewicz, Adeline Baron, Audrey Baudesson de Chanville, Manon Baudry, Agnès Beby‐Defaux, Alexandra Benachi, Melinda Benard, Yasmina Benmalek, Guillaume Benoist, Géraldine Benoit, Clotilde Bertrand, Florence Biquard, Delphine Body‐Bechou, Emilie Bouissou, Brahim Boumahni, Thomas Bourlet, Elise Bouthry, David Boutolleau, Marie Pierre Brechard, Caroline Bressollette, Olivier Brissaud, Marine Butin, Anne‐Sophie Cabaret‐Dufour, Romain Cahierc, Sandrine Caillot‐Vaudoyer, Odile Camard, Margaux Canaguier, Isabelle Cannavo, Clément Castella, Julie Cattin, Caroline Chessa, Marie‐Thérèse Cheve, Marianne Coicaud, Laurence Contin, Marianne Coste‐Burel, Sophie Couderc, Anne‐Marie Darras, Amélie Delabaere, Delphine Delayer, Mathilde Demeyere, Joelle Dendale, Anny Dewilde, Murielle Dobrzynski, Chloé Dole, Chloé Epiard, Véronique Equy, Laurence Fagour, Frederic Faibis, Benoit Fetiveau, Axel Fichez, Christelle Follet‐Bouhamed, Justine Formet, Vincent Foulongne, Loriane Franchinard, Emilie Frobert, Denis Gallot, Patricia Garcia, Isabelle Garrigue, Catherine Gaudy‐Graffin, Stéphanie Gouarin, Ann‐Claire Gourinat, Veronique Grezard, Michele Gueneret‐Bru, Jérôme Guinard, Frédérique Hay, Sophie Henault, Céline Homatter, Nadira Houhou, Cyril Huissoud, Véronique Jacomo, Gaelle Jambon, Eugénie Jolivet, Saodat Karimova, Blandine Keller, Sophie Ketterer‐Martinon, Fedia Khlif Masmoudi, François Kieffer, Bérengère Kireche, Anne‐Sophie L'Honneur, Jean‐Marc Labaune, Imad Labbassi, Marie‐Edith Lafon, Gisèle Lagathu, Stéphane Lastere, Hélène Laurichesse, Mouna Lazrek, Gwenaelle Le Bouar, Camille Le Pors, Claudine Le Vaillant, René Lebeaupin, Elodie Lecorps, Quentin Lepiller, Justine Lerat, Marine Letrecher, Nicolas Leveque, Emmanuelle Levine, Sophie Levrier, David Leyssene, Julien Lupo, Nadia Mahjoub, Anne‐Marie Maillotte, Sandrine Marioli, Julien Marlet, Stéphanie Marque Juillet, Manon Marquet, Charlotte Masias, Marco Millones Gonzales, Philippe Minodier, Nicolas Mottet, Eve Mousty, Sébastien Moutton, Anca Moza, Fatiha Najioullah, Anne‐Laure Nerre, Marie‐France Olieric, Isabelle Parent, Anne Paris, Christophe Pasquier, Estelle Perdriolle‐Galet, Franck Perrotin, Delphine Pesenti, Jean‐Charles Picaud, Olivier Picone, Sylvie Pillet, Léa Pilorge, Didier Pinquier, Veronique Poirier‐Cartron, Lucie Poisson, Perrine Prier, Catherine Queiros‐Da‐Silva, Thibaud Quibel, Harisoa Ramaholimihaso, Fabienne Raskin, Christel Regagnon, Mathilde Roffi, Thierry Rousseau, Anne‐Hélène Saliou, Adèle Schiby, Nathalie Schnepf, Christine Segard, Anaïs Soares, Morgane Solis, Robin Stephan, Natacha Teissier, Cyrielle Thonnon, Cynthia Trastour, Joelle Troussier, Anne Sylvie Valat, Christelle Vauloup‐Fellous, Véronique Venard, Valérie Vequeau‐Goua, Laura Verdurme, Mathilde Vermont, Marie Gabrielle Vigue, Marie Vincienne, Vladimir Vladimirov, Jean‐Baptiste Vuillemenot, Anne Sophie Weingertner, Eric Welter, Christine Zandotti   +176 more
wiley   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, Volume 109, Issue 6, Page 1064-1069, June 2026.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Spectrum of Corpus Callosum Agenesis

Pediatric Neurology Briefs, 2005
Magnetic resonance imaging and clinical features of 16 children with agenesis of the corpus callosum (ACC) are reviewed at UAE University, United Arab Emirates.
J Gordon Millichap
doaj   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1098-1104, May 2026.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

“Caterpillar sign” in corpus callosum associated with curvilinear pericallosal lipoma in MRI: A case report

Radiology Case Reports
Lipoma of the corpus callosum, also known as pericallosal lipoma, is a rare congenital brain abnormality associated with corpus callosum dysgenesis or agenesis.
Kazutoshi Konomatsu, Yosuke Kakisaka, Shiho Sato, Takafumi Kubota, Temma Soga, Kazushi Ukishiro, Kazutaka Jin, Shunji Mugikura, Masashi Aoki, Nobukazu Nakasato   +9 more
doaj   +1 more source

Etiology of Agenesis of Corpus Callosum

Pediatric Neurology Briefs, 2000
Agenesis of the corpus callosum was found in 7 of 135 children (aged 3 months to 15 years) with structural cerebral defects on MRI.
J Gordon Millichap
doaj   +1 more source

Prenatal and postnatal evaluation of polymicrogyria with band heterotopia

Radiology Case Reports, 2017
The coexistence of band heterotopia and polymicrogyria is extremely rare though it has been reported in the presence of corpus callosum anomalies and megalencephaly.
Usha D. Nagaraj, MD, Robert Hopkin, MD, Mark Schapiro, MD, Beth Kline-Fath, MD   +3 more
doaj   +1 more source

Corpus callosum agenesis: Role of fetal magnetic resonance imaging

Asian Pacific Journal of Reproduction, 2016
Corpus callosum agenesis (CCA) was evaluated by ultrasound examination and magnetic resonance imaging (MRI) with many studies. Ultrasonography was able to suspect CCA by indirect signs but a definitive diagnosis of CCA was achieved in rare cases. MRI was
Achour Radhouane, Neji Khaled
doaj   +1 more source