Literature DB >> 20152950

Synophrys.

Matthias Möhrenschlager1, Martin Lauenstein, Johannes Ring, Claudia Steiner.   

Abstract

INTRODUCTION: Meeting of the medial eyebrows in the midline (synophrys) may serve as a cutaneous marker lesion for syndromal disorders (e.g. Cornelia de Lange syndrome). CASE
PRESENTATION: A 31-year-old man showed supercilia forming a single band of terminal hairs between left and right lateral orbital rim. Medical examination of the patient revealed coldness-inducable urticaria, xanthelasma formation and long eyelashes without any signs of a syndromal disorder.
CONCLUSION: Synophrys can be found in some syndromal disorders, but are not pathognomonic for any illness per se. Copyright 2010 Elsevier Masson SAS. All rights reserved.

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Year:  2010        PMID: 20152950     DOI: 10.1016/j.ejmg.2010.02.001

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN: 1769-7212            Impact factor:   2.708


  1 in total

Review 1.  Lysosomal storage diseases--the horizon expands.

Authors:  Rose-Mary Naaman Boustany
Journal:  Nat Rev Neurol       Date:  2013-08-13       Impact factor: 42.937

  1 in total

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