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  • Title: Branchio-oculo-facial syndrome: a three generational family with markedly variable phenotype including neonatal lethality.
    Author: Titheradge HL, Patel C, Ragge NK.
    Journal: Clin Dysmorphol; 2015 Jan; 24(1):13-6. PubMed ID: 25325185.
    Abstract:
    Branchio-oculo-facial syndrome (BOFS) is a rare autosomal dominant condition with variable expressivity, caused by mutations in the TFAP2A gene. We report a three generational family with four affected individuals. The consultand has typical features of BOFS including infra-auricular skin nodules, coloboma, lacrimal duct atresia, cleft lip, conductive hearing loss and typical facial appearance. She also exhibited a rare feature of preaxial polydactyly. Her brother had a lethal phenotype with multiorgan failure. We also report a novel variant in TFAP2A gene. This family highlights the variable severity of BOFS and, therefore, the importance of informed genetic counselling in families with BOFS.
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