Results 111 to 120 of about 11,502 (212)
Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement
JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley +1 more source
Isolated loss of inferior pubic ramus: a case report
Journal of Medical Case Reports, 2008 Introduction It has been stated that regulation of the development of the iliac bone is different from that of the ischium and pubis. There are well-known clinical syndromes concerned with hypoplasia of ischiopubic bone, such as small patella syndrome ...
Saber Aly
doaj +1 more source
Type III collagen disorders: A case report and review of literature
Indian Journal of Pathology and Microbiology, 2016 Collagen type III is a normal component of interstitium and blood vessels. Collagenofibrotic glomerulopathy (CG) and nail patella syndrome (NPS) are the diseases of abnormal type III collagen deposition.
A Anitha +5 more
doaj +1 more source
Nail patella syndrome in a cytogenetically balanced t(9;17)(q34.1;q25) carrier [PDF]
, 1998 Hans‐Christoph Duba +5 more
openalex +1 more source
Abstracts From PVRI 2026 Dublin
Pulmonary Circulation, Volume 16, Issue 2, June 2026.
wiley +1 more source
Nail-patella syndrome with nephrotic syndrome and deafness: a case report
, 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
, 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
Nail patella syndrome: a rare cause of renal failure in a young adult
The 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
Hereditary Onycho-Osteodysplasia (Nail-Patella Syndrome): A Report of An Affected Family [PDF]
, 1992 Kwang Jin Lee +3 more
openalex +1 more source
Acta Ortopédica Brasileira, 2007 A síndrome da unha-patela é uma doença de caráter autossômico dominante, com algumas características clássicas dermatológicas, músculoesqueléticas e, eventualmente, renais, oculares e gastrointestinais.
Lucas Busnardo Ramadan +5 more
doaj +1 more source