Plum syndrome

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Jyostna Chouturi, M.B.B.S [2]

Overview

Plum syndrome is a very rare genetic disorder. It is characterized by retinal non-attachment, colobomata, odd facies, eyes set wide, flat face, dislocated hip, abnormal big toe, contractures of the extremities, cleft lip and mono-segmented leucocytes. There may be associated learning difficulties.[1][2]

Named by Dr. C.M. Plum.

References

  1. Metabolic and Pediatric Ophthalmology, 1979, vol./is. 3/2-4(149-155), 0191-2771 (1979)
  2. http://www.checkorphan.org/disease/plum-syndrome accessed 5 July 2011



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