Results 61 to 70 of about 16,672 (213)
22q11.2 deletion (DiGeorge) syndrome: a mother’s open letter
Cardiogenetics, 2011 Dear E.G., this is an open letter on 22q11.2 deletion syndrome (DiGeorge syndrome). You are the mother of a beautiful 3 year old child. And you are one of the most active members of Aidel22, the Italian Association of 22q deletion syndrome patients and ...
Antonio Baldini +2 more
doaj +1 more source
Concurrent Scoliosis and Dentofacial Anomaly: A Case Report
Case Reports in Orthopedic Research, 2021 The relationship between scoliosis, dentofacial anomaly, and malocclusion is poorly understood. We report a novel and complex pediatric case of concurrent juvenile scoliosis, dentofacial anomaly, and malocclusion, successfully treated and managed by an ...
Samuel Bennett +2 more
doaj +1 more source
Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases
Prenatal Diagnosis, Volume 46, Issue 5-6, Page 849-861, May 2026.ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei +9 more
wiley +1 more source
Atopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management
Diagnostics, 2022 Eczema is a classical characteristic not only in atopic dermatitis but also in various genodermatosis. Patients suffering from primary immunodeficiency diseases such as hyper-immunoglobulin E syndromes, Wiskott-Aldrich syndrome, immune dysregulation ...
Chaolan Pan, Anqi Zhao, Ming Li
doaj +1 more source
Thrombocytopenia and Postpartum Hemorrhage in a Woman with Chromosome 22q11.2 Deletion Syndrome
Case Reports in Obstetrics and Gynecology, 2016 Chromosome 22q11.2 deletion syndrome, also known as DiGeorge or velocardiofacial syndrome, is associated with a wide spectrum of phenotypic features. It is known to be associated with severe macrothrombocytopenia. Postpartum hemorrhage is a leading cause
Sarah L. Pachtman +2 more
doaj +1 more source
The Benefits of CBCT Imaging in the Diagnosis of Individuals with Craniofacial Anomalies
Journal of the California Dental Association, 2023 Background Craniofacial anomalies are developmental anomalies impacting the growth of bones of the face and the skull. These anomalies are reported to affect a large population with a prevalence rate of 2% worldwide.Results Early diagnosis, and ...
Archak Chakraborty +3 more
doaj +1 more source
Pharmacoepidemiology and Drug Safety, Volume 35, Issue 4, April 2026.ABSTRACT Immunocompromised individuals experience an impaired immune function due to conditions that might be either congenital or acquired over the course of their lives. Epidemiological studies often rely on clinical definitions which, in some cases, benefit from being translated into machine‐readable algorithms for application to electronic health ...
Judit Riera‐Arnau +62 more
wiley +1 more source
DiGeorge phenotype in the absence of 22q11 deletion : a case report [PDF]
, 2017 DiGeorge syndrome is polytopic developmental field defect which is usually associated with 22q11.2 microdeletion. However, this phenotype may be caused by other conditions.
Grech, Victor E. +2 more
core
Global increases in both common and rare copy number load associated with autism. [PDF]
, 2013 Children with autism have an elevated frequency of large, rare copy number variants (CNVs). However, the global load of deletions or duplications, per se, and their size, location and relationship to clinical manifestations of autism have not been ...
Baker, Carl +16 more
core +2 more sources
British Journal of Haematology, Volume 208, Issue 4, Page 1407-1418, April 2026.Summary Inherited bone marrow failure syndromes (IBMFSs) are genetically heterogeneous with an expanding spectrum of causative genes. Recent molecular advances are thought to have contributed to genetic identification, yet the true gain in diagnostic yield remains unclear.
Ye Jee Shim +21 more
wiley +1 more source