Results 261 to 270 of about 157,517 (293)

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,
Lillian Glass, Robert J. Gorlin
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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 ...
Howard H. Tessler, David H. Orth, Morton F. Goldberg, Gerald A. Fishman, Stuart Kaufman, Katsuyoshi Mizuno   +5 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 ...
Jens Bollerslev, Leif Mosekilde
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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.
David Smith, Robert H.A. Haslam
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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.
L. Rifai, S. Chafai Elalaoui, I. Cherkaoui Jaouad, Abdelaziz Sefiani   +3 more
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Autosomal dominant microcephaly

The Journal of Pediatrics, 1983
Haslam in his reply to a letter presenting a new family with autosomal dominant microcephaly, affirms that the number of patients with this anomaly is increasing and suggests caution in making the diagnosis. The autosomal dominant chorioretinal dysplasia - microcephaly-mental retardation syndrome, which has variability of expression, must also be ...
Tenconi R, CLEMENTI, MAURIZIO, Audino G.
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Autosomal dominant spastic paraplegias

Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova, 2021
To estimate the proportion and spectrum of infrequent autosomal dominant spastic paraplegias in a group of families with DNA-confirmed diagnosis and to investigate their molecular and clinical characteristics.Ten families with 6 AD-SPG: SPG6 (n=1), SPG8 (n=2), SPG9A (n=1), SPG12 (n=1), SPG17 (n=3), SPG31 (n=2) were studied using clinical, genealogical,
G. E. Rudenskaya, O.L. Mironovich, L. A. Bessonova, F. A. Konovalov, S. A. Kurbatov, V A Kadnikova, Peter Sparber, O. P. Ryzhkova   +7 more
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Autosomal-dominant primary immunodeficiencies

Current Opinion in Hematology, 2005
The vast majority of known primary immunodeficiencies (PIDs) are autosomal or X-linked recessive Mendelian traits. Only four classical primary immunodeficiencies are thought to be autosomal-dominant, three of which still lack a well-defined genetic etiology: isolated congenital asplenia, isolated chronic mucocutaneous candidiasis, and hyper IgE ...
Lawrence, Tatiana, Puel, Anne, Reichenbach, Janine, Ku, Cheng-Lung, Chapgier, Ariane, Renner, Ellen, Minard-Colin, Véronique, Ouachée, Marie, Casanova, Jean-Laurent   +8 more
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Autosomal dominant transmission of acrodysostosis

Clinical Dysmorphology, 1992
A mother and daughter with acrodysostosis are described. This documented parent-to-child transmission supports the hypothesis of autosomal dominant inheritance of acrodysostosis. The daughter exhibited many features of acrodysostosis by two months of age, demonstrating that acrodysostosis may be diagnosed in infancy.
Robert D. Steiner, R A Pagon
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Autosomal Dominant Cramping Disease [PDF]

Archives of Neurology, 1990
A family was studied in which four generations (16 of 41 members) suffered from painful recurrent muscle cramping. A clear pattern of autosomal dominant inheritance was noted. The cramping first developed during adolescence or early adulthood. Electromyographic analysis indicated a neurogenic origin.
Kenneth Ricker, Richard T. Moxley
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