We have located links that may give you full text access.
CASE REPORTS
JOURNAL ARTICLE
Tricho-rhino-phalangeal syndrome type II associated with epiglottic aplasia and congenital nephrotic syndrome.
Journal of the Formosan Medical Association 1997 March
A male neonate with tricho-rhino-phalangeal syndrome type II (Langer-Giedion syndrome) and interstitial deletion of chromosome 8 with karyotype 46, XY, del (8) (q24.11-->q24.13) is reported. In addition to hypotrichosis of the scalp hair, abnormally bulbous nose and redundant skin, which are usually found in this syndrome, aplasia of the epiglottis and non-Finnish type congenital nephrotic syndrome were also present. He died of renal failure and respiratory failure at 11 days of age. Electron microscopy of renal necropsy showed foot process loss, focal thickening and splitting of the glomerular basement membrane and mesangial expansion. These have never been reported and could be new associations in this disease that may serve to support the concept of contiguous gene syndrome in patients with tricho-rhino-phalangeal syndrome.
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