Results 61 to 70 of about 10,613 (196)

OSTEOPETROSIS WITH SYNDACTYLY

open access: yes, 1958
A minority of cases of osteopetrosis show in addition syndactyly and distal phalangeal anomalies. The seven cases that have been reported with this combination have had an unusual degree of density and thickening of the skull vault, face and mandible ...
A. S. Truswell
core   +1 more source

Surgical Treatment of Osteopetrosis-Related Femoral Fractures: Two Case Reports and Literature Review

open access: yesCase Reports in Orthopedics, 2014
Osteopetrosis is a rare hereditary disease which is characterized by increased bone density. Bone resorption is insufficient or fails due to the osteoclast defect in osteopetrosis. Half of the patients are asymptomatic and diagnosed incidentally or based
Ahmet Aslan   +6 more
doaj   +1 more source

One Disease, Many Genes: Implications for the Treatment of Osteopetroses

open access: yesFrontiers in Endocrinology, 2019
Osteopetrosis is a condition characterized by increased bone mass due to defects in osteoclast function or formation. In the last decades, the molecular dissection of osteopetrosis has unveiled a plethora of molecular players responsible for different ...
Sara Penna   +8 more
doaj   +1 more source

The Underestimated Role of Environmental Factors in the Prevention of Invasive Fungal Disease: Experience From a European Childhood Cancer Centre

open access: yesMycoses, Volume 69, Issue 7, July 2026.
ABSTRACT Background Immunocompromised children with hematologic malignancies or undergoing allogeneic haematopoietic stem cell transplantation (HSCT) are at high risk for invasive fungal diseases (IFDs). Reported incidence varies considerably due to heterogeneous diagnostic criteria, antifungal strategies and environmental conditions.
Stefano Malvestiti   +6 more
wiley   +1 more source

Maxillary osteomyelitis in Albers-Schönberg disease: A rare presentation

open access: yesJournal of Dr. NTR University of Health Sciences, 2018
Osteopetrosis (Albers-Schönberg disease) is a rare congenital disorder in which the bones become overly dense. This results from an imbalance between the formation of bone and the breakdown of bone.
Borra Venkata Naga Koti Jyothi Pavan   +2 more
doaj   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

open access: yesAnimal Models and Experimental Medicine, Volume 9, Issue 6, Page 1167-1179, June 2026.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam   +4 more
wiley   +1 more source

Infantile malignant osteopetrosis

open access: yes, 2005
Osteopetrosis, also known as marble bone disease, is a rare in which osteoclast dysfunction causes defective bone resorption and increased bone mass. This disease has been classified into four types.
Bülent Antmen   +6 more
core   +1 more source

Osteopetrosis and Glanzmann's thrombasthenia in a child

open access: yes, 2003
Autosomal recessive osteopetrosis is a rare, fatal disease characterized by accumulation of excessive bone mass due to defective bone resorption. The pathogenesis of osteopetrosis is controversial.
Duru, F.   +3 more
core   +1 more source

Mandibular Radiographic Assessment in Sickle Cell Disease: A Systematic Review of Radiomorphometric Indices and Fractal Dimension

open access: yesSpecial Care in Dentistry, Volume 46, Issue 3, May/June 2026.
ABSTRACT Aim This systematic review aimed to investigate the association between sickle cell disease (SCD) and reduced bone mineral density (BMD) using radiomorphometric indices (RMI) and fractal dimension analysis (FDA) on dental radiographic images.
Diego Belmiro do Nascimento Santos   +6 more
wiley   +1 more source

Osteopetrosis. Reporte de un caso [PDF]

open access: yes, 2020
La osteopetrosis es una rara y compleja enfermedad hereditaria ósea, caracterizada por la alteración de la resorción ósea debido a una deficiente función o pobre desarrollo de osteoclastos, produciendo un hueso altamente calcificado, pero con mayor ...
Maldonado Martínez, Mercy   +3 more
core   +1 more source

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