Results 271 to 280 of about 157,517 (293)

Osteomesopyknosis: An autosomal dominant osteosclerosis

American Journal of Medical Genetics, 1981
AbstractRadiographs of a 27‐year‐old sterile woman showed increased bone density. The lesions were localized to the spine and pelvis. The condition is inherited as an autosomal dominant trait and has been designated osteomesopyknosis.
Dominique Collin, Claude Stoll, Jean Dreyfus, John M. Opitz   +3 more
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Autosomal dominant ichthyosis exfoliativa

British Journal of Dermatology, 1991
An unusual ichthyosiform dermatosis with circumscribed areas of blistering hyperkeratoses as well as scaly areas was observed in five consecutive generations of a German family. Light and electron microscopical studies revealed oedema of the keratinocytes in the upper epidermis but no defects of tonofilaments and keratohyalin granules.
G. Kolde, F. Vakilzadeh
openaire   +3 more sources

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, Norma Leonard, J. Spranger, A.K.J. Chan   +3 more
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Autosomal dominant holocalvarial craniosynostosis

Child's Nervous System, 1995
Isolated holocalvarial synostosis with normal intelligence is described in two pairs of sibs from one kindred. Diagnosis was delayed until the age of 5 years in the pro-band. The gene carriers were asymptomatic and had no head deformity. The genetic pattern is consistent with autosomal dominant inheritance.
Ruth Gershoni-Baruch, Menashe Zaaroor, Giora Pillar   +2 more
openaire   +3 more sources

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.
Giovanni Stevanin, Cécile Cazeneuve, Alexis Brice, Alexandra Durr, Cecilia Marelli   +4 more
openaire   +3 more sources

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 G. McLone, Robin M. Bowman, John A. Kessler   +3 more
openaire   +2 more sources

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 ...
Peter Beighton, Jessica Gardner
openaire   +3 more sources

Autosomal Dominant Drusen

2014
Autosomal dominant drusen is a dominantly inherited maculopathy first described by Doyne in 1899 [1]. The condition is characterised by macular drusen and is associated with slowly progressive loss of central visual acuity. A single heterozygous missense mutation (p.Arg345Trp) in the EFEMP1 (EGF-containing fibulin-like extracellular matrix protein 1 ...
Eva Lenassi, Eva Lenassi, Andrew R. Webster, Andrew R. Webster   +3 more
openaire   +2 more sources

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
openaire   +3 more sources

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
Robert J. Gorlin, Ramesh K. Kuba, Heddie O. Sedano   +2 more
openaire   +3 more sources