Browsing by Subject "mandible"

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    Understanding Primate Mandibular Symphyseal Fusion: Function, Integration, And Ontogeny
    (2017-12) Knigge, Ryan
    Understanding the function-shape relationships of the primate masticatory apparatus has been a focus of anthropological research for many decades. One particular feature of the masticatory apparatus, mandibular symphyseal fusion, is investigated in this work because symphyseal fusion has the potential to provide important information on masticatory function and mandibular fragments are often preserved in the fossil record. Regardless of the attention this anatomical feature has received, a complete understanding of the underlying mechanisms driving the evolution of symphyseal fusion remains elusive. The research presented in this dissertation tackles this dilemma by investigating the functional, integrative, and ontogenetic elements of symphyseal fusion. Function and morphology are linked through innovative approaches using the burgeoning geometric morphometric toolkit to challenge previously held notions about mandibular symphyseal fusion and generate new hypotheses. Ultimately, this work acknowledges similar underlying mechanisms for symphyseal fusion in different primate lineages which were previously thought to be different, questions the utility of symphyseal fusion for reconstructing evolutionary relationships of primates, and finds potential evidence for the independent evolution of symphyseal fusion within the crown anthropoid clade.
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    Whole Exome Sequencing Identifies Candidate Genes For Autosomal Dominant Mesomandibular Fibro-Osseous Dysplasia (Admfod), A Self-Resolving Inherited Fibro-Osseous Lesion Of The Jaws, Unrelated To Fibrous Dysplasia
    (2015-08) Karadimitriou, Sofia
    Autosomal dominant mesomandibular fibro-ossseous dysplasia (ADMFOD) is an inherited fibro-osseous condition that affects the mandible and is apparently self-limiting or self-resolving (Koutlas et al., 2012). Two family members, the propositus and his sister, were initially reported by El Deeb et al. as having congenital monostotic fibrous dysplasia (El Deeb et al., 1979). This publication is a follow-up on that family whereby we performed whole exome sequencing on five affected family members in order to identify possible causative gene candidates. We identified seventeen candidate genes and based on either function or association with conditions exhibiting some phenotypic similarities to ADMFOD genes three, ZSWIM6 (chr.5), CTBP2 (chr.10), and CDKN1C (chr.11) were selected as our best choices. Our results do not support a relation of ADMFOD to fibrous dysplasia since there was no evidence of a GNAS mutation. However, we have three other appropriate models under investigation to identify the causative gene and more importantly to elucidate the pathogenesis as well as the mechanism for resolution of these lesions.