Ocular Manifestations of Syndromes with Craniofacial Abnormalities

Wadih M. Zein, Amy Feldman Lewanda, Elias I. Traboulsi and Ethylin Wang Jabs

in Genetic Diseases of the Eye, Second Edition

Second edition

Published on behalf of © Elias I. Traboulsi

Published in print January 2012 | ISBN: 9780195326147
Published online October 2012 | e-ISBN: 9780199975181 | DOI:

Series: Oxford Monographs on Medical Genetics

Ocular Manifestations of Syndromes with Craniofacial Abnormalities

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Syndromes with craniofacial malformations commonly involve the orbits and are sometimes associated with significant ophthalmologic abnormalities. Strabismus and optic nerve disease are not uncommon. It is beyond the scope of this chapter to cover all the clinical details of the individual syndromes and to include all syndromes with craniofacial abnormalities. We will give a synopsis of the clinical features of selected conditions (Craniosynostosis syndromes, Crouzon syndrome, Apert syndrome, Pfeiffer Syndrome, Jackson-Weiss syndrome, Muenke Syndrome, Saethre-Chotzen syndrome, Boston-type craniosynostosis, Carpenter syndrome, Baller-Gerold syndrome, Treacher Collins syndrome, Oculodentodigital dysplasia (ODDD), as well as an overview of the genetics and details of ophthalmologic manifestations.

Chapter.  10454 words.  Illustrated.

Subjects: Clinical Genetics ; Ophthalmology

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