Engelmann's disease is a hereditary bone disorder that affects the axial and the appendicular skeleton. The facial examination is altered secondary to the progressive osseous changes. This report presents a case of Engelmann's disease in a patient with maxillofacial trauma and reviews the associated facial and skeletal manifestations.
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http://dx.doi.org/10.1016/0030-4220(89)90156-4 | DOI Listing |
Genes (Basel)
October 2024
Replicon Research Nucleus, Graduate Program in Genetics, School of Medical and Life Sciences, Pontifical Catholic University of Goiás, Goiânia 74605-050, GO, Brazil.
Camurati-Engelmann Disease (CED), or Progressive Diaphyseal Dysplasia, is a rare autosomal dominant disorder caused by heterozygous mutations in the Gene, essential for bone regeneration. This study examines the genotype-phenotype relationship in a family diagnosed with CED, specifically focusing on a missense variant (c.653G>A, p.
View Article and Find Full Text PDFPediatr Rheumatol Online J
October 2024
Department of Pediatric Rheumatology, Ankara Etlik City Hospital, Ankara, Turkey.
J Cereb Blood Flow Metab
December 2024
Biomedical Engineering Department, University of Texas at Austin, Austin, TX, USA.
This manuscript quantitatively investigates remodeling dynamics of the cortical microvascular network (thousands of connected capillaries) following photothrombotic ischemia (cubic millimeter volume, imaged weekly) using a novel two-photon angiography and high throughput vascular vectorization method. The results suggest distinct temporal patterns of cerebrovascular plasticity, with acute remodeling peaking at one week post-stroke. The network architecture then gradually stabilizes, returning to a new steady state after four weeks.
View Article and Find Full Text PDFJ Hum Genet
November 2024
Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
BJU Int
August 2024
Institute of Pathology, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.
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