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Precocious puberty in a patient with Oculo-Auriculo-Verebral spectrum (OAVS)

A. Berio, G. Garlaschi, A. Piazzi
  • G. Garlaschi
    Dipartimento DISSAL Università di Genova, Genova, Italy
  • A. Piazzi
    Dipartimento DINOGMI Università di Genova, Genova, Italy


The authors report on the first case of OAVS (Oculo-Auriculo- Vertebral-Spectrum), with hemifacial microsomy, hydrocephalus, pubertas precox, thelarche at 4 years of age, vaginal bleeding at 5 years, and left ovary of adult type on echography (right ovary initially not visualized). FISH and CGH-ARRAYS methods were negative. By GnRH therapy the delay of onset puberty was obtained. The authors ascribe facial and ovary asymmetry to a derangement of blastogenesis, during which axial right-left structures begin the develop with consequent migration or interation with surrounding tissues of neural crest cells and alteration of diencephalic pituitary systems.


Oculo- auriculo- vertebral spectrum. Precocious puberty. Neural crest cells

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Submitted: 2014-11-13 12:07:28
Published: 2014-06-30 00:00:00
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Copyright (c) 2014 A. Berio, G. Garlaschi, A. Piazzi

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