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Autosomal Dominant Osteopetrosis

SSRN Electronic Journal, 2022
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 superior and inferior vertebral body endplates.
Polgreen, Lynda E.   +2 more
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Autosomal Dominant Vitreoretinochoroidopathy

Archives of Ophthalmology, 1982
Autosomal dominant vitreoretinochoroidopathy is a newly described fundus dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation, usually lying between the vortex veins and the ora serrata for 360 degrees. In this zone, there are a discrete posterior boundary, preretinal punctate white opacities, retinal arteriolar ...
S J, Kaufman   +5 more
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Autosomal Dominant Osteosclerosis

Radiology, 1977
Two cases of a craniotubular hyperostosis are presented. The radiographic features closely resemble Van Buchem disease (hyperostosis corticalis generalisata; endosteal hyperostosis, recessive type), including symmetrical and bilateral diaphyseal cortical thickening of the long and short tubular bones as well as sclerosis and thickening of the calvaria,
R J, Gorlin, L, Glass
openaire   +4 more sources

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