Results 221 to 230 of about 178,919 (265)

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, 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 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 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 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, V A, Kadnikova, L A, Bessonova, P A, Sparber, S A, Kurbatov, O L, Mironovich, F A, Konovalov, O P, Ryzhkova   +7 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 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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Autosomal Dominant Cramping Disease

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.
K, Ricker, R T, Moxley
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Autosomal dominant inheritance of spondyloenchondrodysplasia

American Journal of Medical Genetics Part A, 2005
AbstractSpondyloenchondrodysplasia comprises generalized enchondromatosis with platyspondyly and is thought to be inherited as an autosomal recessive condition. A mother and son are reported with typical features of spondyloenchondrodysplasia. Their similar radiographic and MRI findings are presented. The radiologic appearance of the spine changed over
R, Bhargava, N J, Leonard, A K J, Chan, J, Spranger   +3 more
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