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Osteopetrosis

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 ...
Dennis J Stoker
exaly   +3 more sources

Osteopetrosis

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

Genetics of Osteopetrosis

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
exaly   +4 more sources

Imaging in osteopetrosis

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
openaire   +3 more sources

Spondylolysis in osteopetrosis

The Journal of Bone and Joint Surgery. British volume, 1988
We 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
openaire   +2 more sources

Dacryocystorhinostomy in Osteopetrosis

Ophthalmic Surgery, Lasers and Imaging Retina, 1991
ABSTRACT 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
openaire   +2 more sources

Osteopetrosis in trauma

The Journal of Emergency Medicine, 1983
A 19-year-old male with a bone disease that predisposes to pathological fractures was involved in an automobile accident. Although the physician must always look for multiple injuries in any trauma patient, this case illustrates that in the patient with bone disease, the probability of multiple fractures is extremely high. The differential diagnosis of
openaire   +2 more sources

OSTEOPETROSIS

Journal of the American Medical Association, 1933
Osteopetrosis is commonly spoken of as "marble bones"; recently it was referred to as "chalky bones." 1 The condition was first described by Albers-Schonberg 2 in 1904, and it is usually referred to by his name. Reviews of cases may be found in articles by Karshner, 3 Davis, 4 and Alexander.
O. B. MAYER, T. A. PITTS
openaire   +1 more source

Benign Osteopetrosis

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.
openaire   +2 more sources

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