Results 41 to 50 of about 5,571 (225)
Genetics and Molecular Biology, 2005 Two unrelated patients of different sexes are described, both presenting with congenital redundant skin (cutis laxa), growth deficiency, mental retardation and bone dystrophy.
Carlos Eduardo Steiner +2 more
doaj +1 more source
Living with cutis laxa: an exploratory study [PDF]
, 2020 Rare diseases, while individually uncommon, collectively may impact up to 10% of the population. This makes rare disease a major global public health issue. Most rare diseases have a genetic etiology.
Solanki, Pooja
core
Autosomal recessive cutis laxa Type II: Report of novel mutation in a child
Indian Dermatology Online Journal, 2017 Autosomal recessive cutis laxa type-II (ARCLII) is a spectrum of clinical disorders with prenatal and postnatal growth retardation, cutis laxa, dysmorphism, and skeletal abnormalities.
Rakesh Kumar +3 more
doaj +1 more source
Angiitis with Nodule Formation, Vasomotor Instability and Secondary Cutis Laxa11From the University of Southern California School of Medicine, Department of Medicine (Doctor Winsor) and Section of Dermatology (Doctor Obermayer), Los Angeles, California. [PDF]
, 1959 https://nsuworks.nova.edu/nsudigital_harrison/3625/thumbnail ...
Obermayer, Maximilian E., Winsor, Travis
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Electronic Physician, 2015 Cutis laxa is a connective tissue disorder caused by deficiency of fibro elastic plexus, which can involve multiple organs. It is inherited in autosomal dominant, autosomal recessive, and X-linked.
Mohammadbagher Rahmati +3 more
doaj +1 more source
A 5-year journey with cutis laxa in an Indian child: The de barsy syndrome revisited
Indian Journal of Dermatology, 2016 De Barsy syndrome (DBS), synonymously known as autosomal recessive cutis laxa type III, is an extremely rare condition clinically characterized by cutis laxa, a progeroid appearance, and ophthalmologic abnormalities.
Abhijit Dutta +3 more
doaj +1 more source
A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]
, 2012 Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James +4 more
core +3 more sources
, 2014 Why only 20% of smokers develop clinically relevant chronic obstructive pulmonary disease (COPD) was a puzzle for many years. Now, epidemiologic studies point clearly toward a large heritable component.
Lomas, David A, Marciniak, Stefan J
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Sweet's syndrome leading to acquired cutis laxa in a child (Marshall's syndrome): A rare case report
Indian Journal of Paediatric Dermatology, 2016 Sweet's syndrome is very rare in children, fewer than 80 cases are reported in literature. The lesions usually resolve either spontaneously or after treatment without scarring.
H Bangaru +3 more
doaj +1 more source
Cutis laxa: A report of two interesting cases
Indian Journal of Dermatology, 2013 Cutis laxa is a rare disease that may be either inherited or acquired. The acquired form is rarer than the inherited form. Pathogenesis of this disease is largely unknown.
Subhabrata Mitra +3 more
doaj +1 more source