Journal of Maxillofacial and Oral Surgery

, Volume 8, Issue 3, pp 279–282 | Cite as

45,X/46,XY mosaicism and Oculo-Auriculo-Vertebral Spectrum following an IVF pregnancy: a report and a discussion of their interrelationships

Case Report
First Online:
Received:
Accepted:

Abstract

The aetiology of Oculo-Auriculo-Vertebral Spectrum (OAVS) is unkown. We report a case following a prenatal diagnosis of 45,X/46,XY mosaicism in a pregnancy achieved by In-Vitro Fertilization (IVF) and describe evidence for the interrelationships of these phenomena and multiple births. This report extends the phenotypes associated with prenatally diagnosed 45,X/46,XY mosaicism and supports the association of OAVS and IVF.

Keywords

OAVS Mosaicism Assisted reproduction techniques Multiple births 
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Copyright information

© Springer 2009

Authors and Affiliations

  1. 1.School of Paediatrics and Child HealthUniversity of WAPerthAustralia

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