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Pierre Robin Sequence

Changing Faces, Changing Lives Contents Otherwise known as? Pierre Robin sequence is also known by the following names: Pierre Robin syndrome Robin sequence Pierre Robin anomaly Pierre Robin malformation Signs & Symptoms Pierre Robin sequence is a condition that involves a combination of craniofacial differences. The primary features include micrognathia (a small jaw), cleft palate, […]

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Pfeiffer Syndrome

Changing Faces, Changing Lives Contents Otherwise known as? Pfeiffer syndrome is also known by the following names: Craniofacial Dysostosis Type II Craniofacial Syndrome Type II Pfeiffer Syndrome with Syndactyly Craniosynostosis with Syndactyly These terms refer to the same genetic condition characterized by premature fusion of skull bones (craniosynostosis), leading to a different head shape and

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Crouzon Syndrome

Changing Faces, Changing Lives Contents What is Crouzon Syndrome? Crouzon syndrome: is a genetic condition characterized by craniosynostosis (premature fusion of skull bones), which affects the shape of the head and face. Otherwise known as? Craniofacial dysostosis Signs & Symptoms The severity of symptoms varies among individuals. 1. Craniofacial differences Craniosynostosis: Premature skull fusion leading

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Apert Syndrome

Changing Faces, Changing Lives Contents Otherwise known as? Apert syndrome is also known by several other names, although “Apert syndrome” is the most widely recognized. Some alternative terms or descriptions include: Craniofacial dysostosis – This refers to differences in growth of the skull bones, which is a key feature of Apert syndrome. Apert’s syndrome –

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Cleft surgical Fellow Dr Nitisha Narayan

Faltering Growth in Cleft Lip/Palate: How Far Have We Come?

Changing Faces, Changing Lives Research Title Lead Author Ms Nitisha Narayan (Craniofacial Australia-funded researcher) Published in The Journal of Craniofacial Surgery At a glance The study examined data from the UK’s large-scale Cleft Collective research cohort to understand how common faltering growth remains in children born with cleft lip and palate, despite significant improvements in

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Exploring aberrant chondrocyte death as a new origin of craniofacial defects

Changing Faces, Changing Lives Project Title Researcher Assoc Prof Quenten Schwarz Institution University of South Australia https://www.youtube.com/watch?v=aasnbLi-Tww At a glance Clinical applications of new discoveries in hope of improving patient care Assoc. Prof. Schwarz’ previous research uncovered that dietary supplements given to pregnant mothers can alter how the cranial skeleton of their babies grow. Remarkably,

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Understanding genetic pathways that regulate palate closure

Changing Faces, Changing Lives Project Title Researcher Assoc Prof Sebastian Dworkin Location La Trobe University, Victoria https://youtu.be/XHl3XFJZki0 At a glance The project team discovered that a specific gene family, the GRHL genes, are crucial for the development of the face and head, specifically by regulating the function of numerous other genes. Using extensive identification and

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Craniofacial researchers at Adelaide University

More than a diagnosis: voices of those living with craniofacial conditions

Changing Faces, Changing Lives Project TItle More than a diagnosis: voices of those living with craniofacial conditions Researchers Prof Rachel Roberts Dr Amanda Osborn Assoc Prof Diana Dorstyn Location Adelaide University At a Glance People living with craniofacial conditions often face challenges that go far beyond medical treatment. While research has captured the experiences of

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Management of Wide Cleft Palate: A Systematic Review of Surgical and Multidisciplinary Approaches

Changing Faces, Changing Lives Project Title Research Location University of Bristol and Oxford University Hospitals NHS Trust, United Kingdom Research Team Mr Marc SwanMs Nitisha NarayanUK Cleft CollectiveUniversity of Bristol Research Team Project Duration 1 year At a glance Wide cleft palates can be especially difficult to repair and may require multiple surgeries throughout childhood.

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