Medicine:Daentl Townsend Siegel syndrome

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Daentl Townsend Siegel syndrome
Other namesHydrocephalus-blue sclerae-nephropathy syndrome
One of the symptoms, hydrocephalus, seen on a CT scan of the brain.

Daentl Townsend Siegel syndrome is a very rare disorder characterized by blue sclerae, kidney malfunction, thin skin, and hydrocephalus. It was first identified by D.L. Daentl et al. in 1978.[1] Daentl Townsend Siegel syndrome is also known as "Hydrocephalus blue sclera nephropathy" and "Familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome".[2]

References

  1. ↑ Daentl, D. L.; Townsend, J. J.; Siegel, R. C.; Godman, J. R.; Piel, C. F.; Wara, D. W.; Bachmann, R. P. (1978). "Familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome: clinical, structural and biochemical studies.". Birth Defects Original Article Series 14 (6B): 315–339. PMID 728573. 
  2. ↑ "Daentl Towsend Siegel syndrome (Supplementary Concept)". Medical Subject Headings. https://www.ncbi.nlm.nih.gov/mesh?term=hydrocephalus%20blue%20sclera%20nephropathy. 
Classification
External resources




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