Trisomy 13 (Patau syndrome)
Reviewer: Deepali Jain, M.D. (see Reviewers page)
Revised: 29 September 2014, last major update January 2013
Copyright: (c) 2003-2014, PathologyOutlines.com, Inc.
- Almost all patients have severe ocular abnormalities
- 80% have microphthalmos (abnormally small eyes), cyclopean synophthalmus (fused eyes),
(Am J Ophthalmol 2006;141:1057), or
persistent hyperplastic primary vitreous
- 75% have retinal dysplasia (tubular and rosette-like structures)
- 65% have cartilage within coloboma
- 60% have anterior chamber dysgenesis (defective development of cornea, iris or anterior chamber angle), often associated with congenital glaucoma
Cyclopia with proboscis
End of Eye > General > Trisomy 13 (Patau syndrome)
This information is intended for physicians and related personnel, who understand that medical information is often imperfect, and must be interpreted in the context of a patient's clinical data using reasonable medical judgment. This website should not be used as a substitute for the advice of a licensed physician.
All information on this website is protected by copyright of PathologyOutlines.com, Inc. Information from third parties may also be protected by copyright. Please contact us at [email protected]
with any questions (click here for other