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Ophthalmologic findings in cerebrofaciothoracic dysplasia

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Ophthalmologic findings in cerebrofaciothoracic dysplasia
Bouzas, E.A. Karadimas, P. Kanaka-Gantenbein, C. Papastathopoulos, C. Dimitrakos, S. Mastorakos, G.
scientific_publication_article
Επιστημονική δημοσίευση - Άρθρο Περιοδικού (EL)
Scientific publication - Journal Article (EN)
2005
We describe the ophthalmologic findings in two cases of Cerebrofaciothoracic dysplasia, a rare syndrome characterized by facial dysmorphism, multiple malformations of the vertebrae and ribs, and significant mental retardation. Both affected individuals are members of the same family and have epicanthal folds and hypertelorism. In addition, one patient has bilateral bull's eye maculopathy, which may represent an additional severe manifestation of Cerebrofaciothoracic dysplasia syndrome. (EN)
English
Ερευνητικό υλικό ΕΚΠΑ
https://creativecommons.org/licenses/by-nc/4.0/
University of Athens
Pergamos Digital Library
Journal Article



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