Results 41 to 50 of about 9,184 (168)
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
Essential embryology for the Canadian pathologists’ assistant
Anatomical Sciences Education, Volume 19, Issue 7, Page 1134-1156, July 2026.Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci +4 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
Clinical Case Reports, Volume 14, Issue 7, July 2026.ABSTRACT Early recognition of syndromic features by dental professionals can lead to timely diagnosis and intervention, especially when systemic anomalies have been overlooked. Preventive and individualized dental management, supported by behavioral guidance, can achieve long‐term stability even in medically complex patients, including those with ...
Nazanin Nasr +4 more
wiley +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
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson +1 more
wiley +1 more source
DiGeorge's Syndrome and Fetal Alcohol Syndrome
Archives of Pediatrics & Adolescent Medicine, 1983 Sir.—Four patients with clinical and laboratory features of DiGeorge's syndrome with a history of maternal alcoholism were described by Ammann et al in the article "The DiGeorge Syndrome and the Fetal Alcohol Syndrome" (Journal1982;136:906-908). In the article (p 906), Ammann and colleagues stated, "Maternal alcoholism may result in the DiGeorge ...
openaire +3 more sources
Clinical Case Reports, Volume 14, Issue 6, June 2026.ABSTRACT We report the first Cat Eye Syndrome case from Sudan: a 5‐month‐old female with growth retardation, craniofacial dysmorphism, congenital cataract without iris coloboma, and ventricular septal defect. Cytogenetics confirmed 47,XX,+idic(22)(q11.2).
Rayan Khalid, Imad Fadl‐Elmula
wiley +1 more source
Prenatal Diagnosis, Volume 46, Issue 7, Page 1096-1103, June 2026.ABSTRACT Objective To investigate the genetic etiologies and clinical significance of fetal tympanic ring abnormalities detected during second‐trimester ultrasound in the absence of microtia. Method Between November 2019 and June 2024, we examined the fetal tympanic rings of 10,277 unselected pregnant women during the 20–22 weeks of morphology ...
Yung Hang Lam +5 more
wiley +1 more source