Results 71 to 80 of about 15,355 (176)
Transfusion, EarlyView.Abstract Background The high‐prevalence Emm antigen is an epitope on the GPI (glycosylphosphatidylinositol) glycolipid backbone, which anchors proteins to the cell surface. Inherited loss‐of‐function of PIGG (or PIGO) results in the rare Emm− red cell (RBC) phenotype and is associated with congenital disorders of glycosylation (CDG).
Alastair Murray +8 more
wiley +1 more source
Frontiers in PediatricsIntroductionMetopic craniosynostosis results in a deformed skull and hence, impacts brain growth and development. Surgery is usually applied to treat this trigonocephalic head malformation.
Huthaifa Atallah +7 more
doaj +1 more source
Plastic and Reconstructive Surgery, Global Open, 2013 Background: Metopic craniosynostosis can occur in isolation or in conjunction with other congenital anomalies. The surgical decision making and outcomes between these 2 groups are analyzed. Methods: A retrospective review of all children evaluated in the
Craig B. Birgfeld, MD +3 more
doaj +1 more source
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2396-2404, October 2026.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
Birth Defects Res A Clin Mol Teratol [PDF]
BackgroundEvidence in animal models and humans suggests that exposure to polycyclic aromatic hydrocarbons (PAHs) may lead to birth defects. To our knowledge, this relationship has not been evaluated for craniosynostosis, a birth defect characterized by ...
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Anesthesia Management for Craniosynostosis Surgery
, 2022 Craniosynostosis is premature fusion of one or more cranial sutures. In isolated craniosynostosis, surgical procedures are applied to ensure normal brain development and normal cognitive functions, to correct cosmetic deformities in order to prevent ...
Özlü, O., Onur Özlü
core +1 more source
Current and future perspectives in craniosynostosis. [PDF]
, 2017 Craniosynostosis has a varied clinical spectrum, ranging from isolated single suture involvement to multi-sutural fusions. Greater understanding of the pathogenesis of craniosynostosis has led to the development of practical treatment protocols.
강석구
core +1 more source
Caring for Rare Genetic Disease: A Vision for the Future
Journal of Genetic Counseling, Volume 35, Issue 5, October 2026.ABSTRACT The United Nations, 2021 resolution to promote and protect the human rights of the estimated 300 million People Living with a Rare Disease and their families, set a milestone worldwide. At the same time, the successful diagnostic results of large genomic initiatives are reshaping rare disease healthcare in many countries.
Ruth Horn +2 more
wiley +1 more source
, 2011 Pfeiffer syndrome (OMIM 101600) is an autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, ocular proptosis and digital malformations.
陳持平;林炫沛;蘇怡寧;蔡輔仁;王偉信 +1 more
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CRANIOSYNOSTOSIS: A CASE REPORT [PDF]
Background: Craniosynostosis has a prevalence of 1 in 2000 to 2500 live births. We report on a case of craniosynostosis managed surgically. Method: A 2-year old male, case of craniosynostosis which presented to Ziauddin Hospital North Nazimabad OPD ...
Tehniat Abdul Khaliq +5 more
core +1 more source