Results 81 to 90 of about 1,198,598 (142)

NAIL-PATELLA SYNDROME WITH ILIAC HORNS AND HEREDITARY NEPHROPATHY

open access: yes, 1967
1 . Necropsy and dissection findings of a man of fifty-two who died from nail-patella syndrome are recorded. 2. The significance of the iliac horns are discussed and the literature concerning their development is reviewed. 3.
C. F. Hawkins, D. Darlington
core   +1 more source

Abstracts From PVRI 2026 Dublin

open access: yes
Pulmonary Circulation, Volume 16, Issue 2, April 2026.
wiley   +1 more source

Nail patella syndrome: a rare cause of renal failure in a young adult

open access: yesThe Pan African Medical Journal, 2011
Nail Patella Syndrome (NPS) is a rare hereditary disease affecting multiple systems with predominant involvement of Kidney, Bones and Nails and Eyes. We report a case of NPS which presented as renal failure in a 22 year old male. The patient was admitted
Nagendra Boopathy Senguttuvan   +3 more
doaj   +1 more source

Crescentic glomerulonephritis associated with nail-patella syndrome in a 13-year-old girl

open access: yes, 2008
Nail-patella syndrome (NPS), also known as hereditary osteoonychodysplasia, is a rare autosomal dominant pleiotropic disorder, defined by the association of nail dysplasia, skeletal abnormalities and renal lesions.(1) Skeletal features include absent or ...
GUERGOEZE, Metin K.   +7 more
core   +1 more source

Nail-Patella Syndrome [PDF]

open access: yesSudan J Paediatr, 2023
Lovelace PD, May LA.
europepmc   +2 more sources

Nail-patella syndrome with nephrotic syndrome and deafness: a case report

open access: yes, 2018
Nail patella syndrome (NPS) is a rare hereditary disorder, characterized by typical dermatological and musculoskeletal abnormalities. It is an autosomal dominant condition resulting from the mutation of LMX1b gene at chromosome 9q34.
Siti Nor Hidayah Binti Kamarulzaman
core  

"Knee-Ding" a Diagnosis: A Case of Nail Patella Syndrome. [PDF]

open access: yesCureus, 2023
Dzhugarian S   +3 more
europepmc   +1 more source

A child with nail-patella syndrome including nephropathy, autism, and epilepsy [PDF]

open access: yes, 2004
Nail-Patella syndrome is characterized by dysplasia or absence of nailbeds and patellae, abnormalities of the elbow such as subluxation of the radial head, hornlike overgrowths of the iliac bones, and in some cases, nephropathy.
Yagi, Kazuro   +5 more
core   +1 more source

Dilated Cardiomyopathy and Nail-Patella Syndrome: A Case Report. [PDF]

open access: yesCureus, 2023
Khadka N   +4 more
europepmc   +1 more source

The "small patella" syndrome

open access: yes, 1979
Twelve closely related members of one family were found to have small or absent patellae. Seven of these patients also had abnormalities of the pelvic girdle and upper femora.
JE Scott, WS Taor
core   +1 more source

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