Results 131 to 140 of about 1,198,648 (166)
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Nephropathy of Nail-Patella Syndrome
Ultrastructural Pathology, 1988Ultrastructural renal lesions of a sporadic case of nail-patella syndrome are described. Although the patient, an 8-year-old Japanese boy, had no clinical renal syndrome, electron microscopy disclosed the presence of collagen fibrils and electron lucent areas within glomerular basement membrane.
Shigeo Takebayashi, S Takebayashi
exaly +3 more sources
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
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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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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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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
Radiological characteristics of the knee joint in nail patella syndrome
Bone and Joint Journal, 2016Siebren Tigchelaar, G Hannink
exaly