Results 251 to 260 of about 207,744 (307)

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., Imel, Erik A., Econs, Michael J.   +2 more
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Autosomal Dominant Osteopetrosis

Clinical Orthopaedics and Related Research, 1993
Autosomal dominant osteopetrosis is radiographically characterized by universal osteosclerosis, primarily involving the axial skeleton, and by symmetrical affections of the long bones without modeling defects. Based on standard radiographs, it is possible to describe two different subtypes with different clinical, biochemical, and histologic ...
J, Bollerslev, L, Mosekilde
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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
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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, M F, Goldberg, D H, Orth, G A, Fishman, H, Tessler, K, Mizuno   +5 more
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Autosomal dominant microcephaly

The Journal of Pediatrics, 1979
Four families with autosomal dominant microcephaly are reported. Although the phenotype is nondistinctive, several patients had receding or small foreheads, upslanted palpebral fissures, or prominent ears. The degree of intellectual dysfunction is not as severe as that recorded in autosomal recessive microcephaly.
R H, Haslam, D W, Smith
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Autosomal dominant erythromelalgia

American Journal of Medical Genetics, 1992
AbstractWe present a kindred of 29 persons affected with erythromelalgia (erythermalgia) in 5 generations. This paper updates the family reported by Burbank et al. [1966]. Patients have symptoms of intermittent intense burning limb pain related to increased skin temperature.
W H, Finley, J R, Lindsey, J D, Fine, G A, Dixon, M K, Burbank   +4 more
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Autosomal dominant microtia

European Journal of Medical Genetics, 2010
Microtia (MIM600674) is a congenital malformation which occurs in 1/8000-10000 births. It is characterized by a small, and abnormally shaped pinna. It ranges in severity from a bump of tissue to a partially formed ear cup. Microtia is often associated with atresia of the external auditory canal.
S, Chafai Elalaoui, I, Cherkaoui Jaouad, L, Rifai, A, Sefiani   +3 more
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AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY

Retina, 1997
Autosomal dominant vitreoretinochoroidopathy recently has been described as a condition characterized by peripheral chorioretinal atrophy and areas of hypopigmentation and hyperpigmentation between the equator and the ora serrata circumferentially in the ocular fundus.
J, Roider, E, Fritsch, H, Hoerauf, W, Heide, H, Laqua   +4 more
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Autosomal dominant cemental dysplasia

Oral Surgery, Oral Medicine, Oral Pathology, 1982
Abstract Autosomal dominant cemental dysplasia is the term chosen to describe what is considered to be a new entity affecting cementum and neighboring bone. The condition was present in ten members of the same family, segregating as an autosomal dominant trait. A review of the literature failed to demonstrate previously reported cases. The name was
H O, Sedano, R, Kuba, R J, Gorlin
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Autosomal Dominant Humeroperoneal Myopathy

Archives of Neurology, 1986
Emery-Dreifuss muscular dystrophy is a syndrome with five salient features: early and unusual contractures; humeroperoneal muscle wasting; the slow progression of weakness, beginning in childhood; cardiac conduction defects; and X-linked inheritance. We present two cases and detail other reports with a similar constellation of findings with apparent ...
J M, Gilchrist, R T, Leshner
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