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Current Osteoporosis Reports, 2018 The term osteopetrosis refers to a group of rare skeletal diseases sharing the hallmark of a generalized increase in bone density owing to a defect in bone resorption. Osteopetrosis is clinically and genetically heterogeneous, and a precise molecular classification is relevant for prognosis and treatment. Here, we review recent data on the pathogenesis
Ciro Menale +2 more
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Molecular Mechanisms of Craniofacial and Dental Abnormalities in Osteopetrosis
International Journal of Molecular Sciences, 2023 Osteopetrosis is a group of genetic bone disorders characterized by increased bone density and defective bone resorption. Osteopetrosis presents a series of clinical manifestations, including craniofacial deformities and dental problems.
Xiaohong Duan
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Autosomal dominant osteopetrosis
Bone, 2023 Autosomal dominant osteopetrosis (ADO) is the most common form of osteopetrosis. ADO is characterized by generalized osteosclerosis along with characteristic radiographic features such as a "bone-in-bone" appearance of long bones and sclerosis of the ...
Lynda E Polgreen, Erik A Imel
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American Orthoptic Journal, 2013
Osteopetrosis is a rare disease that occurs when a child has an unequal balance between new bone growth and elimination of old bone. Children with this entity are able to make new bone tissue, but are not able to break down and eliminate old bones, which is essential for normal bone growth. These thickened and enlarged bones are very weak.
Patricia F, Jenkins +3 more
openaire +2 more sources
Osteopetrosis is a rare disease that occurs when a child has an unequal balance between new bone growth and elimination of old bone. Children with this entity are able to make new bone tissue, but are not able to break down and eliminate old bones, which is essential for normal bone growth. These thickened and enlarged bones are very weak.
Patricia F, Jenkins +3 more
openaire +2 more sources
Bone, 2022
Imaging investigations are critical in the management of children with suspected and confirmed osteopetrosis. In severe cases, imaging can provide rapid confirmation of the diagnosis, whilst in milder cases, imaging findings may be the first or only indicators of the disease.
Calder, Alistair D. +2 more
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Imaging investigations are critical in the management of children with suspected and confirmed osteopetrosis. In severe cases, imaging can provide rapid confirmation of the diagnosis, whilst in milder cases, imaging findings may be the first or only indicators of the disease.
Calder, Alistair D. +2 more
openaire +3 more sources
Spondylolysis in osteopetrosis
The Journal of Bone and Joint Surgery. British volume, 1988We report the occurrence of spondylolysis and/or spondylolisthesis of the lumbar vertebrae in five patients with osteopetrosis, four of them having multiple lesions. The case histories indicate that spondylolysis had developed in the pathological bone as a result of increased stress and that it is an acquired lesion.
L, Szappanos, K, Szepesi, V, Thomázy
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Seminars in Musculoskeletal Radiology, 2002
Osteopetrosis is a rare sclerosing inherited dysplasia of bone caused by the deficient function of osteoclasts. At first the disease was divided into the severe infantile recessive and the more benign autosomal dominant types, but clinical differences and progress in genetic understanding have now enabled identification of two distinct autosomal ...
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Osteopetrosis is a rare sclerosing inherited dysplasia of bone caused by the deficient function of osteoclasts. At first the disease was divided into the severe infantile recessive and the more benign autosomal dominant types, but clinical differences and progress in genetic understanding have now enabled identification of two distinct autosomal ...
openaire +2 more sources
Dacryocystorhinostomy in Osteopetrosis
Ophthalmic Surgery, Lasers and Imaging Retina, 1991ABSTRACT Osteopetrosis is a rare congenital disorder of bone metabolism characterized by generalized sclerotic bone resulting from osteoclast dysfunction. There are several ocular manifestations, one of which is nasolacrimal duct obstruction from osteosclerosis of the nasolacrimal foramen.
S D, Orengo, J R, Patrinely
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Clinical Nuclear Medicine, 1990
A case of a 3 1/2-year-old female with benign osteopetrosis is presented. There was radiographic evidence of previous fetal sclerosis of bone yielding a "bone-within-a-bone" appearance, but on radiophosphate imaging this fetal sclerosis was not hyperactive and could not be differentiated from the normal diaphysis surrounding it.
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A case of a 3 1/2-year-old female with benign osteopetrosis is presented. There was radiographic evidence of previous fetal sclerosis of bone yielding a "bone-within-a-bone" appearance, but on radiophosphate imaging this fetal sclerosis was not hyperactive and could not be differentiated from the normal diaphysis surrounding it.
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