Results 31 to 40 of about 15,355 (176)
Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis
Case Reports in Genetics, 2022 Craniosynostosis, the premature fusion of the calvarial bones, has numerous etiologies. Among them, several involve mutations in genes related to the TGFb signaling pathway, a critical molecular mediator of human development.
Jonas Gustafson +3 more
doaj +1 more source
Craniosynostosis: a radiographic review [PDF]
Craniosynostosis is a common pediatric condition defined by the premature fusion of cranial sutures and is known to cause visually distinct cranial abnormalities.
Agtarap, Jason, Nickerson, Joshua
core +1 more source
Study of environmental and genetic factors in children with craniosynostosis: A case-control study
Journal of Pediatric Neurosciences, 2013 Background: Craniosynostosis is a congenital defect that causes one or more sutures on an infant′s skull to close earlier than normal. Though both genetic and environmental factors play a role in its pathogenesis, there is no published Indian data to ...
Mayadhar Barik +3 more
doaj +1 more source
RGO: Revista Gaúcha de Odontologia, 2022 Shprintzen-Goldberg craniosynostosis syndrome, characterized by craniosynostosis and marfanoid habitus, is a very rare entity described in 75 individuals worldwide.
Danielle Monsores VIEIRA +5 more
doaj +1 more source
Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila +3 more
wiley +1 more source
PLoS ONE, 2020 Craniosynostosis is the premature fusion of cranial bones. The goal of this study was to determine if delivery of recombinant tissue nonspecific alkaline phosphatase (TNAP) could prevent or diminish the severity of craniosynostosis in a C57BL/6 ...
Hwa Kyung Nam +3 more
doaj +1 more source
The Anatomical Record, EarlyView.Abstract Sequence variations in fibroblast growth factor receptor 2 (FGFR2) are associated with craniosynostosis syndromes, disrupting craniofacial development, yet early mandibular alterations remain poorly characterized. This study examined Meckel's cartilage (MC) and mandibular morphology in mouse models of Apert (Fgfr2+/P253R) and Crouzon ...
Fred R. Foster +7 more
wiley +1 more source
What Counts as Educational Innovation in Clinical Anatomy?
Clinical Anatomy, EarlyView.ABSTRACT Clinical anatomy has become a prominent setting for educational innovation because it links anatomical science with diagnostic imaging, procedural practice, surgery, simulation, and patient safety. However, the term innovation is used inconsistently.
Juan A. Sanchis‐Gimeno +2 more
wiley +1 more source
Molecular Mechanisms Involved in Craniosynostosis
, 2023 Craniosynostosis refers to the early fusion of one or many cranial sutures, causing craniofacial abnormalities observed in 1:2, 500 births worldwide. In most cases (85%), craniosynostosis is presented as sporadic anomaly (nonsyndromic craniosynostosis ...
Sotiriadou, T. +5 more
core
Short report: craniosynostosis, a late complication of nutritional rickets [PDF]
, 2021 OBJECTIVES: Nutritional rickets may be a preventable cause of craniosynostosis. This potential association is under-recognised. A late diagnosis of craniosynostosis may result in reduced brain growth, raised intracranial pressure and long-term ...
Mughal, M.Z. +11 more
core +1 more source