Results 151 to 160 of about 1,289,318 (184)
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Developmental Medicine & Child Neurology, 1966
The nail-patella syndrome is a pleiotropic malformation syndrome affecting the nails,the skeleton, and occasionally the central nervous system and the kidneys. Thirty-eight cases from five kindreds illustrate this syndrome, its autosomal dominant inheritance and pleiotropic manifestations, as well as an occasional new mutation.
George L. Lucas +2 more
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The nail-patella syndrome is a pleiotropic malformation syndrome affecting the nails,the skeleton, and occasionally the central nervous system and the kidneys. Thirty-eight cases from five kindreds illustrate this syndrome, its autosomal dominant inheritance and pleiotropic manifestations, as well as an occasional new mutation.
George L. Lucas +2 more
openaire +3 more sources
Journal of the American Academy of Dermatology, 2003
NAIL-PATELLA SYNDROME, FONG’S SYNDROME, OR HEREDITARY ONYCHOOSTEODYSPLASIA (HOOD), TURNERKIESER SYNDROME, OMIM #161200 Nail-patella syndrome is an autosomal dominant disorder with a characteristic clinical tetrad including fingernail dysplasia, hypoplastic or absent patellae, dislocation of the radial head, and bony protuberances of the iliae, known as
Beth A, Schulz-Butulis +2 more
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NAIL-PATELLA SYNDROME, FONG’S SYNDROME, OR HEREDITARY ONYCHOOSTEODYSPLASIA (HOOD), TURNERKIESER SYNDROME, OMIM #161200 Nail-patella syndrome is an autosomal dominant disorder with a characteristic clinical tetrad including fingernail dysplasia, hypoplastic or absent patellae, dislocation of the radial head, and bony protuberances of the iliae, known as
Beth A, Schulz-Butulis +2 more
openaire +2 more sources
The Journal of Dermatologic Surgery and Oncology, 1981
A case of the nail‐patella syndrome in extensive development is presented and the literature on this rare hereditary arthro‐osteo‐onychodysplasia is reviewed.
C, Kouskoukis, A, Tousimis, D, Minas
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A case of the nail‐patella syndrome in extensive development is presented and the literature on this rare hereditary arthro‐osteo‐onychodysplasia is reviewed.
C, Kouskoukis, A, Tousimis, D, Minas
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Living-Related Renal Transplantation in a Patient With Nail-Patella Syndrome
Nephron, 1988 Living-related renal transplantation was performed successfully in a patient with nail-patella syndrome. Graft biopsy 18 months post-transplantation showed normal glomerular basement membrane by electron microscopy. Dystrophic nails of both index fingers
Patricia C K Chan +2 more
exaly +2 more sources
Archives of Dermatology, 1964
A case of the nail-patella-elbow syndrome is reported. To our knowledge, it is the first case of the condition in which elastic fiber changes of the skin have been described. The abnormal histologic findings in grossly normal appearing skin is unexplained.
R C, GIBBS, P H, BERCZELLER, A B, HYMAN
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A case of the nail-patella-elbow syndrome is reported. To our knowledge, it is the first case of the condition in which elastic fiber changes of the skin have been described. The abnormal histologic findings in grossly normal appearing skin is unexplained.
R C, GIBBS, P H, BERCZELLER, A B, HYMAN
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Genetics in Medicine, 2010 PURPOSE: Nail-Patella syndrome (MIM 161200) is a rare autosomal dominant disorder characterized by hypoplastic or absent patellae, dystrophic nails, dysplasia of the elbows, and iliac horn.
Andrea Salmaggi, Renata Bocciardi
exaly +3 more sources
Radiological Characteristics of the Knee Joint in Nail Patella Syndrome
Bone and Joint Journal, 2016 AIM: Nail patella syndrome (NPS) is a skeletal dysplasia with patellofemoral dysfunction as a key symptom. We present the first in-depth radiological evaluation of the knee in a large series of NPS patients and describe the typical malformations ...
Siebren Tigchelaar +2 more
exaly +2 more sources
Clinical nephrology, 1980
Three cases with collagenation of glomerular basement membrane are presented. The ages of the patients are 8, 13, and 27 years. An 8-year-old boy presented with nephrotic syndrome; a 13-year-old girl presented with recurrent urinary tract infections, proteinuria, and edema; and a 27-year-old woman was noted during the evaluation of a cardiac murmur to ...
S G, Sabnis +5 more
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Three cases with collagenation of glomerular basement membrane are presented. The ages of the patients are 8, 13, and 27 years. An 8-year-old boy presented with nephrotic syndrome; a 13-year-old girl presented with recurrent urinary tract infections, proteinuria, and edema; and a 27-year-old woman was noted during the evaluation of a cardiac murmur to ...
S G, Sabnis +5 more
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Zeitschrift fur Urologie und Nephrologie, 1990
In a case report the rare nail-patella-syndrome is presented. Typical and pathognomonic signs are: nail aplasia or dystrophy, iliac horns, hypoplasia or aplasia of the patellae, elbow dysplasia and a nephropathy with electron microscopic demonstrable collagen-like deposition in the glomerular basal membrane.
B, Rogner +3 more
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In a case report the rare nail-patella-syndrome is presented. Typical and pathognomonic signs are: nail aplasia or dystrophy, iliac horns, hypoplasia or aplasia of the patellae, elbow dysplasia and a nephropathy with electron microscopic demonstrable collagen-like deposition in the glomerular basal membrane.
B, Rogner +3 more
openaire +1 more source