We have located links that may give you full text access.
JOURNAL ARTICLE
RESEARCH SUPPORT, NON-U.S. GOV'T
RESEARCH SUPPORT, U.S. GOV'T, P.H.S.
An orthopaedic scoring system for nail-patella syndrome and application to a kindred with variable expressivity and glaucoma.
Journal of Pediatric Orthopedics 1999 September
To help determine whether there is a genetic basis to the substantial variability observed in nail-patella syndrome (NPS), we devised a scoring system that quantifies the severity of the orthopaedic characteristics in NPS. Use of this system to score affected members in three generations of a single kindred revealed wide variability of severity of orthopaedic findings both within and between generations. Genetic testing in this family supported, but did not prove, a previously reported theory that the severity of the NPS in the offspring is modulated by the allele contributed by the unaffected parent. Evaluation of nonorthopaedic characteristics revealed the presence of glaucoma and the absence of kidney disease in this family. It is important that patients with NPS be evaluated for renal disease and glaucoma.
Full text links
Related Resources
Trending Papers
Heart failure with preserved ejection fraction: diagnosis, risk assessment, and treatment.Clinical Research in Cardiology : Official Journal of the German Cardiac Society 2024 April 12
Proximal versus distal diuretics in congestive heart failure.Nephrology, Dialysis, Transplantation 2024 Februrary 30
World Health Organization and International Consensus Classification of eosinophilic disorders: 2024 update on diagnosis, risk stratification, and management.American Journal of Hematology 2024 March 30
Efficacy and safety of pharmacotherapy in chronic insomnia: A review of clinical guidelines and case reports.Mental Health Clinician 2023 October
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app