Australian Craniofacial Unit

Australian, Australia

Australian Craniofacial Unit

Australian, Australia
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Cox T.C.,University of Washingtons | Moon D.J.,Sydney Childrens Hospital | Turner A.M.,Sydney Childrens hospital | Le T.,South Eastern Area Laboratory Services molecular diagnostic laboratory | And 25 more authors.
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics | Year: 2013

Craniosynostosis is one of the most common craniofacial disorders encountered in clinical genetics practice, with an overall incidence of 1 in 2,500. Between 30% and 70% of syndromic craniosynostoses are caused by mutations in hotspots in the fibroblast growth factor receptor (FGFR) genes or in the TWIST1 gene with the difference in detection rates likely to be related to different study populations within craniofacial centers. Here we present results from molecular testing of an Australia and New Zealand cohort of 630 individuals with a diagnosis of craniosynostosis. Data were obtained by Sanger sequencing of FGFR1, FGFR2, and FGFR3 hotspot exons and the TWIST1 gene, as well as copy number detection of TWIST1. Of the 630 probands, there were 231 who had one of 80 distinct mutations (36%). Among the 80 mutations, 17 novel sequence variants were detected in three of the four genes screened. In addition to the proband cohort there were 96 individuals who underwent predictive or prenatal testing as part of family studies. Dysmorphic features consistent with the known FGFR1-3/TWIST1-associated syndromes were predictive for mutation detection. We also show a statistically significant association between splice site mutations in FGFR2 and a clinical diagnosis of Pfeiffer syndrome, more severe clinical phenotypes associated with FGFR2 exon 10 versus exon 8 mutations, and more frequent surgical procedures in the presence of a pathogenic mutation. Targeting gene hot spot areas for mutation analysis is a useful strategy to maximize the success of molecular diagnosis for individuals with craniosynostosis. © 2013 Wiley Periodicals, Inc.


Al-Khatib A.,Universiti Sains Malaysia | Rajion Z.A.,Universiti Sains Malaysia | Masudi S.M.,Universiti Sains Malaysia | Hassan R.,Universiti Sains Malaysia | And 2 more authors.
Orthodontics and Craniofacial Research | Year: 2011

Objective- To investigate tooth size and dental arch dimensions in Malays using a stereophotogrammetric system. Setting and Sample Population- The sample consisted of 252 subjects with ages ranged from 13 to 30years. Materials and Methods- Images of dental casts were captured by stereophotogrammetry and selected variables were measured using a three-dimensional (3D) imaging system. Sex differences and changes associated with age were assessed, and interrelationships between different variables were explored within the study group. Results- Men had significantly larger mesio-distal crown widths and dental arch dimensions than women (p<0.05). None of the dental arch dimensions or mesio-distal crown widths showed a significant change because of age except the widths of the upper canine, lower first molar and central incisor. Significant correlations of tooth size with dental arch dimensions were found, particularly with arch lengths and perimeters. A principal component analysis showed interrelationships between the majority of tooth size variables with inter-canine width, arch length and perimeter distances. Conclusion- This study has established new reference data for tooth size and arch dimensions in Malays and demonstrated patterns of variation that are relevant to anthropologists interested in making comparisons within and between different populations and also to clinicians developing treatment plans for their patients. The study confirmed the accuracy of the 3D photogrammetric method for measuring dental casts. © 2011 John Wiley & Sons A/S.


Wiszniak S.,University of South Australia | Mackenzie F.E.,University College London | Anderson P.,Australian Craniofacial Unit | Anderson P.,University of Adelaide | And 3 more authors.
Proceedings of the National Academy of Sciences of the United States of America | Year: 2015

Jaw morphogenesis depends on the growth of Meckel's cartilage during embryogenesis. However, the cell types and signals that promote chondrocyte proliferation for Meckel's cartilage growth are poorly defined. Here we show that neural crest cells (NCCs) and their derivatives provide an essential source of the vascular endothelial growth factor (VEGF) to enhance jaw vascularization and stabilize the major mandibular artery. We further show in two independent mouse models that blood vessels promote Meckel's cartilage extension. Coculture experiments of arterial tissue with NCCs or chondrocytes demonstrated that NCC-derived VEGF promotes blood vessel growth and that blood vessels secrete factors to instruct chondrocyte proliferation. Computed tomography and X-ray scans of patients with hemifacial microsomia also showed that jaw hypoplasia correlates with mandibular artery dysgenesis. We conclude that cranial NCCs and their derivatives provide an essential source of VEGF to support blood vessel growth in the developing jaw, which in turn is essential for normal chondrocyte proliferation, and therefore jaw extension. © 2015, National Academy of Sciences. All rights reserved.


Snell B.J.,Australian Craniofacial Unit | Roberts R.M.,University of Adelaide | Anderson P.,Australian Craniofacial Unit | Anderson P.,University of Adelaide | And 2 more authors.
Journal of Craniofacial Surgery | Year: 2014

Complex fractures of the craniofacial skeleton are caused most commonly, in Australia, by motor vehicle accidents, falls, and interpersonal violence. Significant force is required to fracture the facial skeleton, and the long-term effect these forces have on higher brain function is unclear. The study aim was to assess long-term neuropsychologic changes associated with complex fractures of the facial skeleton.Patients managed for complex fractures of the facial skeleton by the Australian Craniofacial Unit, South Australia, between 2002 and 2011, with at least 1-year follow-up, were assessed using the European Brain Injury Questionnaire. This questionnaire has previously published control data to which results were compared. Of the 2077 patients treated for facial fractures, 46 were identified as having complex fractures of the facial skeleton. Of the 46 patients, 13 were able to be contacted and assessed using the European Brain Injury Questionnaire. Changes in personality and ability to socialize and undertake executive function were noted in approximately 30% of the patients. In addition, approximately 50% of the patients' family members reported significant changes in the patients' life after the accident, yet this was only recognized by approximately 30% of the patients. This study shows that, despite the "crumple zone" of the facial skeleton providing some level of protection to the brain, patients having complex fractures of the facial skeleton have long-term neuropsychologic changes that affect both their own and their family's quality of life. © 2014 Mutaz B. Habal, MD.


Greenwell T.H.,South Australian Institute of Ophthalmology | Greenwell T.H.,University of Adelaide | Anderson P.J.,Australian Craniofacial Unit | Anderson P.J.,University of Adelaide | And 6 more authors.
Clinical and Experimental Ophthalmology | Year: 2014

Background: The study aimed to review the presentation and long-term visual outcomes of patients with orbitotemporal neurofibromatosis. Design: Retrospective case series. Participants: Patients with orbitotemporal neurofibromatosis presenting from 1981 to 2009. Methods: Demographic data, examination findings, causes of vision impairment and interventions performed were recorded for each patient from presentation through subsequent follow-up encounters. Visual impairment was defined as an ipsilateral Snellen acuity of <6/12. Main Outcome Measures: The proportion of patients with visual impairment or enucleation, the rate of new vision loss during follow up; and causes for vision loss or enucleation. Results: Thirty-seven patients (17 female) were included. Median presenting age was 15 years (range 2-45) with an average follow up of 7.4 years (range 0.5-20.3). Visual impairment occurred in 54% of patients at presentation. Causes were amblyopia (13 of 37), optic atrophy (4 of 37), previous enucleation/evisceration (2 of 37), and optic nerve glioma (1 of 37). At presentation, 76% of patients had ptosis, and 51% had strabismus. Thirty-one patients had surgery, with an average of two procedures per patient. At final follow up, 62% had visual impairment. The rate of visual decline was 2% per patient-years. Causes of visual decline were two patients with optic nerve atrophy, one with exposure keratitis and one whose cause was unknown. Five blind patients had enucleation. Conclusions: The first series of orbitotemporal neurofibromatosis to focus on visual outcomes was presented. Vision loss is common, with a high prevalence of amblyopia. Close monitoring from an early age is needed to prevent visual impairment. © 2014 Royal Australian and New Zealand College of Ophthalmologists 42 3 April 2014 10.1111/ceo.12179 Original Articles Clinical Science Original Article © 2013 Royal Australian and New Zealand College of Ophthalmologists.


David D.J.,Australian Craniofacial Unit | David D.J.,Womens and Childrens Hospital | Smith I.,Australian Craniofacial Unit | Smith I.,Womens and Childrens Hospital | And 6 more authors.
Plastic and Reconstructive Surgery | Year: 2011

Background: The optimal management of cleft lip-cleft palate patients presents a formidable challenge to the cleft surgeon. This is especially so in the case of bilateral cleft lip-cleft palate, and the long-term management in a multidisciplinary setting is essential. This study presents the results of the specific management protocol at the Australian Craniofacial Unit for patients with bilateral cleft lip-cleft palate who have completed their protocol treatment under the care of a single surgeon (D.J.D.) during the period 1974 to 2006. Methods: A retrospective study of the outcomes in relation to facial growth, speech, hearing, and occlusion is presented of patients with bilateral cleft lip-cleft palate. Results: Nineteen cases were identified from the departmental database, 12 male patients and seven female patients. Six patients with severe craniofacial deformities who had bilateral cleft lip-cleft palate were excluded. Cephalometric analysis at skeletal maturity identified that a majority of cases had midface hypoplasia requiring midface advancement in 14 cases. Speech and hearing outcomes were worse when compared with other clefting types. Conclusion: Overall, these results demonstrate that facial growth is more affected in bilateral cleft lip-cleft palate patients than in either unilateral cleft lip-cleft palate or isolated cleft palate patients. © 2011 by the American Society of Plastic Surgeons. © 2011 by the American Society of Plastic Surgeons.


Pun A.H.-Y.,Womens and Childrens Hospital | Clark B.E.,Womens and Childrens Hospital | David D.J.,Australian Craniofacial Unit | Anderson P.J.,Australian Craniofacial Unit
Journal of Craniofacial Surgery | Year: 2012

Treacher Collins syndrome is a congenital syndrome with characteristic craniofacial malformations, which are well described in the literature. However, the presence of cervical spine dysmorphology in this syndrome has been minimally described. This study reviews cervical spine radiographs of 40 patients with Treacher Collins syndrome. In this sample, 7 of 40 patients displayed cervical spine anomalies, with 3 of these patients displaying multiple cervical spine anomalies. The patterns of spinal anomalies were variable, suggesting that the underlying genetic mutation has variable expressivity in cervical spine development as it does elsewhere in the craniofacial skeleton. Copyright © 2012 by Mutaz B. Habal, MD.

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