Results 91 to 100 of about 1,289,318 (184)

NAIL-PATELLA SYNDROME WITH ILIAC HORNS AND HEREDITARY NEPHROPATHY

, 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

Nail-Patella Syndrome [PDF]

Proceedings of the Royal Society of Medicine, 1963
J A Fixsen, D R Sweetnam
openaire   +4 more sources

Triangular Lunulae in Papillon–Lefèvre Syndrome: A Case Report

Clinical Case Reports
Triangular lunulae, typically associated with Nail–Patella Syndrome, may also present in other syndromes, as seen in this case. Papillon–Lefèvre syndrome is a rare genodermatosis linked to significant morbidity.
Zarak Khan Shiraz, Fahad Faizullah, Qaisar Ali Khan, Irfan Ullah, Mehran Khan, Bader Semakieh, Zain Ul Islam, Ravina Verma   +7 more
doaj   +1 more source

THE INHERITANCE AND DEVELOPMENT OF THE NAIL-PATELLA SYNDROME

, 1963
1. A genetic and orthopaedic analysis of a family of seventy members exhibiting the nail-patella syndrome is described. 2. The disorder is found to be determined by a simple dominant autosomal gene with complete penetrance, but displaying variable ...
Frederick Hecht, Robert B. Duthie
core   +1 more source

A novel mutation in LMX1B gene in a newborn with nail-patella syndrome: Clinical and dermoscopic findings

, 2020
We report on a 3-month-old female patient presenting with bilateral anonychia of the thumbnails and hyponychia of the index nails. Clinico-dermoscopic examination revealed triangular lunulae in all fingernails.
Baldassarri M., Cinotti E., Rubegni P., Fava F., Renieri A., Tognetti L., Provvidenziale L.   +6 more
core   +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

The "small patella" syndrome

, 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

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, Mahesha Vankalakunti, Vishwanath Siddini, Kishore Babu, Ravishankar Bonu, Sudarshan Ballal   +5 more
doaj   +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, Arjun Sivaraman, Devasenathipathy Kandasamy, Kanniraj Marimuthu   +3 more
doaj   +1 more source

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source