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Health Dictionary

Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Plum syndrome

Introduction

Overview

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

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