Results 261 to 270 of about 207,744 (307)

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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Brachyolmia: An autosomal dominant form

American Journal of Medical Genetics, 1994
AbstractWe have investigated a mother and son of South African Xhosa stock who presented with short‐trunk dwarfism and kyphoscoliosis. Radiographs show the marked platyspondyly and vertebral irregularity characteristic of brachyolmia. Our patients provide further evidence for the existence of an autosomal dominant form and supports the theory of ...
J, Gardner, P, Beighton
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Autosomal dominant cerebellar ataxias

Revue Neurologique, 2011
Cerebellar ataxias with autosomal dominant transmission (ADCA) are far rarer than sporadic cases of cerebellar ataxia. The identification of genes involved in dominant forms has confirmed the genetic heterogeneity of these conditions and of the underlying mechanisms and pathways.
C, Marelli, C, Cazeneuve, A, Brice, G, Stevanin, A, Dürr   +4 more
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Autosomal dominant flat umbilicus

American Journal of Medical Genetics Part A, 2004
AbstractWe describe a Chinese family among whom five members in three generations had a flat umbilicus with vertical and male to male transmission indicative of autosomal dominant inheritance. Except the proband, who also had Tetralogy of Fallot, other affected members had a flat umbilicus as an isolated anomaly.
Alexander K C, Leung, D Ross, McLeod
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Autosomal Dominant Crystalline Dystrophy

Ophthalmology, 1991
A black woman was identified with a tapetoretinal degeneration with sparkling intraretinal crystals, retinal pigment epithelial and choroidal atrophy, night blindness, color vision abnormalities, and paracentral scotomas. This constellation of findings is most consistent with the diagnosis of Bietti's crystalline dystrophy.
B W, Richards, D E, Brodstein, J J, Nussbaum, J R, Ferencz, K, Maeda, L, Weiss   +5 more
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Autosomal Dominant Exudative Vitreoretinopathy

Archives of Ophthalmology, 1984
To the Editor. —In their article in the OctoberArchives, Feldman et al 1 confirmed the extreme variability of clinical signs of autosomal dominant exudative vitreoretinopathy. Their findings agree with observations of other recent studies of (autosomal) dominant exudative vitreoretinopathy. 2,3 Feldman et al 1 reported the occurrence of intraretinal
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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.
R D, Steiner, R A, Pagon
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Autosomal dominant occipital cephalocele

Neurology, 2004
The authors report the clinical and radiographic characteristics of a non-consanguineous Vietnamese kindred with an autosomal dominant form of occipital cephalocele. Affected family members all presented with occipital subscalp bulges at birth. Except for the proband, all individuals were developmentally normal with otherwise normal neurologic ...
Alexander G, Bassuk, David, McLone, Robin, Bowman, John A, Kessler   +3 more
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Autosomal dominant lamellar ichthyosis

Clinical Genetics, 1986
Five members of two generations of one family were affected with lamellar ichthyosis, suggesting autosomal dominant transmission. The clinical and histopathological characteristics of the cases described here are similar to those reported by Traupe et al.
J, Toribio, V, Fernández Redondo, C, Peteiro, A, Zulaica, J M, Fabeiro   +4 more
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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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