Treacher Collins syndrome: A case report and review of literature
SRM Journal of Research in Dental Sciences, 2016 Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is named after E. Treacher Collins who described the essential components of the condition in 1900. The
Tarun Kumar +3 more
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Crouzon’s syndrome with adenotonsillitis: conventional surgery in altered anatomy. [PDF]
, 2013 Background/Objectives: Crouzon’s syndrome is characterized by premature closure of the cranial sutures, midface hypoplasia, orbital deformities & other associated abnormalities.Children with Crouzon syndrome frequently have obstructive sleep apnea ...
Appaji, Mohan +6 more
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Plausible occupational impact on familial Treacher–Collins syndrome: Dental findings and management
Indian Journal of Dental Sciences, 2020 Treacher–Collins syndrome (TCS) is a disorder of autosomal dominant inheritance commonly linked to the mutation of human gene TREACLE (Treacher–Collins–Franceschetti 1).
Namita Kalra +4 more
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The characteristics of craniofacial and cervicovertebral morphology in different genetic syndromes – a literature review and three case reports [PDF]
, 2016 Introduction: Patients with genetic syndromes were characterized by variety of skeletal craniofacial and cervicovertebral morphology. Skeletal anomalies are recognized concomitants of the various genetic syndromes.
Jakovljević, A. +3 more
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Epithelial-mesenchymal transitions: the importance of changing cell state in development and disease [PDF]
, 2009 The events that convert adherent epithelial cells into individual migratory cells that can invade the extracellular matrix are known collectively as epithelial-mesenchymal transition (EMT).
Akitaya +49 more
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Repercussões Bucais da Síndrome de Treacher Collins: revisão de literatura
Journal Of Oral Investigations, 2018 A Síndrome de Treacher Collins é um distúrbio do desenvolvimento de herança autossômica dominante e expressividade variável que ocorre, devido a um defeito genético com mutações no gene TCOF1, presente no cromossomo 5, que tem 26 éxons e codifica uma ...
Sérgio Spezzia
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British Journal of Plastic Surgery, 1950 Summary Two cases of Treacher Collins syndrome are reported. The family history is shown to be variable, but there appears to be a distinct familial incidence. A comparison has been drawn between the Treacher Collins syndrome and unilateral facial agenesis. The embryology is discussed, and it has been suggested that the causative factor may influence
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The effect of atorvastatin on pancreatic beta cell requirement in women with polycystic ovary syndrome [PDF]
, 2017 Background There is an increased risk of developing T2DM in women with polycystic ovary syndrome (PCOS) and there is evidence that statins improve metabolic parameters in these patients.
Atkin, Stephen L. +3 more
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Microtia: A Combined Approach by Genetics and Audiology
The Egyptian Journal of Otolaryngology, 2016 En Abstract Introduction Microtia is a condition in which the external portion of the ear (the auricle) is malformed. In the strictest definition, there is also narrowing or absence of the external auditory canal (external auditory meatus).
Elham El-Saiid +4 more
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Congenital upper eyelid coloboma with ipsilateral eyebrow hypoplasia [PDF]
, 2012 Introduction. Coloboma is a Greek word, which describes the defect of all layers of the organ, and it can be congenital or as the result of an injury, operation, or some disease.
Janićijević-Petrović Mirjana +7 more
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