Results 41 to 50 of about 11,502 (212)

Imaging of nail-patella syndrome

Hong Kong medical journal = Xianggang yi xue za zhi, 2005
Nail-patella syndrome is a rare disorder, which is inherited as an autosomal dominant trait. This condition is also known as hereditary osteo-onychodysplasia or Fong's syndrome. Posterior iliac horns are commonly found in this syndrome and are considered
Okten O.O., Tuncbilek N., Karakas H.M.
core   +3 more sources

Nail-Patella Syndrome

British Journal of Dermatology
We report a 9-year-old girl with nail–patella syndrome caused by a heterozygous nonsense LMX1B mutation. She presented with the classic triad of nail hypoplasia, small patella and iliac horns.
Lovelace PD, May LA.
europepmc   +4 more sources

Nail - Patella Syndrome

JCR: Journal of Clinical Rheumatology, 2011
A Síndrome Unha-Rótula ou Nail-Patella Syndrome (OMIN 161200) (Osteo-Onicodisplasia Hereditária), descrita pela primeira vez por Chatelain em 1820, é uma síndrome polimalformativa rara que afecta tecidos de origem ecto e mesodérmica.
Baptista, J, Pinheiro, LA, Tavares-Bello, R, Silvério, C   +3 more
core   +4 more sources

A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

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.
Mónica Marini, Renata Bocciardi, Stefania Gimelli   +2 more
exaly   +3 more sources

Plateau iris syndrome and angle-closure glaucoma in a patient with nail-patella syndrome [PDF]

American Journal of Ophthalmology Case Reports, 2020
Purpose: To describe a case of plateau iris syndrome (PIS) and angle-closure glaucoma (ACG) in a patient with nail-patella syndrome (NPS). Observation: A 33 year-old woman of Slovakian ancestry from Norway with a history of NPS presented with angle ...
Margot A. Gardin, Chiea Chuen Khor, Luis Silva, Einar A. Krefting, Robert Ritch   +4 more
doaj   +2 more sources

Clinico-genetic study of nail-patella syndrome [PDF]

, 2009
Nail-patella syndrome (NPS) is an autosomal dominant disease that typically involves the nails, knees, elbows and the presence of iliac horns. In addition, some patients develop glomerulopathy or adult-onset glaucoma.
Tae-Joon Cho, Yong-Hoon Park, Ha, Il Soo, Hae Il Cheong, Lee, Beom Hee, Cheong, Hae Il, Park, Yong-Hoon, Yong Choi, Kang, Hee Kyung, Beom Hee Lee, Cho, Tae-Joon, Hyun Jin Choi, Il Soo Ha, Choi, Yong, Lim, In Seok, Hee Kyung Kang, In Seok Lim, Choi, Hyun Jin   +17 more
core   +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 ...
S Tigchelaar, A Van Kampen
exaly   +2 more sources

Nail-patella syndrome [PDF]

Orthopaedics and Trauma, 2009
Rouin Amirfeyz
exaly   +5 more sources

Congenital Absence of Bilateral Patella in an Active Military Personnel Case Report

Journal of Orthopaedic Case Reports
Introduction: Congenital absence of the patella refers to a condition where an individual is born without the patella. It may be bilateral or unilateral.
Mohammed Alshahrani, Ali Maqbool, Mubashar Maqbool   +2 more
doaj   +2 more sources

A Double Case of Nail-Patella Syndrome in the Same Family: The Importance of Nail Changes as Diagnostic Clues for Renal Involvement. [PDF]

Skin Appendage Disord, 2019
Nail diseases are rarely given significant importance in general consultation and their specific examination is often neglected, while localization to the nails could be an initial sign of a syndrome or a systemic disorder.
Starace M, Di Altobrando A, Alessandrini A, Piraccini BM.   +3 more
europepmc   +2 more sources