Daentl Townsend Siegel syndrome

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. Daentl Townsend Siegel syndrome is also known as "Hydrocephalus blue sclera nephropathy" and "Familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome".

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. Retrieved 2012-08-21.


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