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Orofacial-Digital Syndrome Analysis

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Oral-facial-digital syndrome is a rare heterogeneous group of conditions that affect development of the oral cavity, facial features and digits. Furthermore, central nervous system (CNS) abnormalities can also be part of this developmental disorder. At least 13 forms of OFDS based on their pattern of signs and symptoms have been identified so far. Type 1 which is now considered to be a ciliopathy accounts for the majority of cases. It is caused by mutations in OFD1 gene and transmitted in an X-linked dominant pattern with embryonic male lethality. We present a family with clinical diagnosis of orofaciodigital syndrome type I, where two female siblings and their mother shared a novel mutation in the gene. Clinically, the sibling had oral,
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