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Bulgarian Review of Ophthalmology

FACE2 GENE - New opportunity for early and timely diagnosis of Eye Dysmorphic Syndromes

A. Popova


Introduction: Early and timely diagnosis of dysmorphic syndromes continues to be a challenge and a challenge for pediatricians, ophthalmologists, clinical geneticists, dismorfologist. Over 80% of dysmorphic syndromes have different ocular manifestations. Aim: To present FACE2 GENE. Material and methods: Made a literature review for FACE2GENE and presented is a personal experience. Results and Discussion: FACE2 GENE, by FDNA (Facial Dysmorphology Novel Analysis), is a new modern technology for rapid analysis and commentary on various dysmorphic facial stigmata, including the visual system, the syndromes in which they occur, studies the relationship of phenotype-genotype existing and new genetic syndromes allows backup of the information received, compiling personal database library.


Face2 gene; Facial Dysmorphism;

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A. Popova
Children`s eye compartment, Multispecialty University Hospital `Alexandrovska`, Medical University - Sofia