Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature

Oculoauriculovertebral spectrum (OAVS; OMIM 164210) is a complex condition characterized by defects of aural, oral, mandibular and vertebral development. The aetiology of this condition is likely to be heterogeneous; most cases are sporadic, however, familial cases suggesting autosomal recessive end autosomal dominant inheritance have been reported. In this study, we describe the clinical aspects of nine familial cases with evidence of autosomal dominant inheritance and compare them with reports in the literature. Interfamilial and intrafamilial clinical variabilities were observed in this study (reinforcing the necessity of careful examination of familial members). We suggest that oculoauriculovertebral spectrum with autosomal dominant inheritance is characterized mainly by bilateral auricular involvement and rarely presents extracranial anomalies. Clin Dysmorphol 18:67-77 (C) 2009 Wolters Kluwer Health | Lippincott Williams & Wilkins.

Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome

Most patients with Kabuki syndrome (KS) are the only person in their family with the condition. However, familial cases of KS have been described showing evidence that this syndrome can be inherited as a dominant trait with variable expressivity. We report on two related individuals with facial findings characteristic of KS. The proposita had arched eyebrows, long and upward slanting palpebral fissures, cleft lip and palate, retromicrognathia, brachydactyly of hands and feet, stubby fingers, nail hypoplasia, and prominent finger pads. Her mother had eyebrows with dispersed lateral half, long and upward slanting palpebral fissures, retrognathia, abnormal and posteriorly rotated ears, prominent finger pads, brachydactyly of feet, learning difficulties, and psychomotor development delay. DNA sequencing revealed a novel missense mutation in the MLL2 gene in both the proposita and her mother. The mutation (p.R5432Q) was found in the exon 51, within the SET domain of the gene, which confers methyltransferase activity on the protein. Therefore, the epigenetic and transcriptional regulatory properties of this protein may be altered and this suggests that the mutation is the cause of phenotype observed in both the patient and her mother. The clinical signs and the molecular evidence in this family further support the notion that KS is an autosomal dominant condition with variable expressivity. To our knowledge this is the first report of a Brazilian family with recurrence of this syndrome. (C) 2012 Wiley Periodicals, Inc.

Auriculo-Condylar Syndrome. Confronting a Diagnostic Challenge

Auriculo-condylar syndrome (ACS) is characterized by typical ears malformation (so-called "question mark" ears), prominent cheeks, microstomia, and abnormality of the temporomandibular joint and condyle of the mandible. In this report we describe a new simplex case and a previously unreported family with affected individuals in three generations documenting clinical variability. Linkage study for markers located in candidate region for ACS1 (1p21.1-q23.3) was excluded in our familial case, reinforcing the hypothesis of genetic heterogeneity for this condition. A review of the literature focusing diagnostic criteria and features of ACS was performed. (C) 2011 Wiley Periodicals, Inc.

22q11 deletion syndrome and limb anomalies: Report on two Brazilian patients

Objective: To report on two Brazilian patients with chromosome 22q11 deletion who presented with velopharyngeal insufficiency, congenital heart anomalies, developmental delay, and limb anomalies. The pattern of limb anomalies in these patients, which range from ectrodactyly to limb synostosis, is very uncommon in 22q11 deletion syndrome. Conclusion: These patients widen the spectrum of clinical signs of the 22q11 deletion syndrome and alert researchers to conduct additional investigation in patients with limb involvement with velopharyngeal insufficiency and/or cardiac anomalies, along with developmental delay.

Mandibulofacial Syndrome With Growth and Mental Retardation, Microcephaly, Ear Anomalies With Skin Tags, and Cleft Palate in a Mother and Her Son: Autosomal Dominant or X-Linked Syndrome?

We report on a Brazilian mother and her son affected with mandibulofacial dysostosis, growth and mental retardation, microcephaly, first branchial arch anomalies, and cleft palate. To date only three males and one female, all sporadic cases, with a similar condition have been reported. This article describes the first familial case with this rare condition indicating autosomal dominant or X-linked inheritance. (C) 2009 Wiley-Liss, Inc.

Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7

The authors describe on a Brazilian girl with coronal synostosis, facial asymmetry, ptosis, brachydactyly, significant learning difficulties, recurrent scalp infections with marked hair loss, and elevated serum immunoglobulin E. Standard lymphocyte karyotype showed a small additional segment in 7p21[46,XX,add(7)(p21)]. Deletion of the TWIST1 gene, detected by Multiplex Ligation Probe-dependent Amplification (MPLA) and array-CGH, was consistent with phenotype of SaethreChotzen syndrome. Array CGH also showed deletion of four other genes at 7p21.1 (SNX13, PRPS1L1, HD9C9, and FERD3L) and the deletion of six genes (CACNA2D2, C3orf18, HEMK1, CISH, MAPKAPK3, and DOCK3) at 3p21.31. Our case reinforces FERD3L as candidate gene for intellectual disability and suggested that genes located in 3p21.3 can be related to hyper IgE phenotype. (C) 2012 Wiley Periodicals, Inc.

Blepharo-cheilo-dontic (BCD) syndrome: Report on four new patients

We report on four Brazilian patients with, among other signs, cleft lip and palate, dental anomalies, ectropion of the lower eyelids, euryblepharon, and lagophthalmia, Two were sporadic cases and two were familial cases, a mother and her equally affected son, Recently, the reports with different combination of these signs were reviewed by Gorlin et al, [1996; Am J Med Genet 65:109-112] and named blepharo-cheilo-dontic (BCD) syndrome, Variable expressivity and autosomal dominant inheritance were observed. (C) 1998 Wiley-Liss, Inc.

Cultural factors affecting tertiary education access for Bundjalung men

Despite documented changes to mainstream educational systems, Indigenous educational achievements are still at critically low levels across all phases of formal education. According to the Australian Bureau of Statistics (2011) Indigenous students are still less likely than non-Indigenous students to complete their final years of schooling (45% compared with 77% in 2009); tertiary level entry and outcomes are also significantly lower than non-Indigenous entry and outcomes. Although significant research has focused on the area of Indigenous education, in particular, identifying and making recommendations on how to close educational gaps between Indigenous and non-Indigenous people, these studies have failed to bring about the change needed and to engage successfully with Indigenous communities and draw on Indigenous communities’ insights for best practice. This thesis focuses on Indigenous perspectives and takes a closer look at the cultural factors that impact on tertiary education access for Indigenous young men who come from a Bundjalung community on the far north coast of northern New South Wales. To date, this community has not been the focus of serious postgraduate study. Their experiences and the values and ideas of their community have not been investigated. To do this, the study uses an Indigenous methodological framework. It draws on Indigenous Standpoint Theory to analyse data through concepts of the cultural interface and tensions (Nakata, 2007, pp. 195-217). The study’s framing also draws on decolonising methods (Porsanger, 2004; Smith, 1999) and Indigenist research methods (Rigney, 1997). Such methodologies are intended to benefit both the research participants (community members) and the researcher. In doing so, the study draws on Creswell’s (2008) methods of restorying and retelling to analyse the participants’ interviews and yarns about their lives and experiences relating to tertiary educational access. The research process occurred in multiple stages: (1) selection of research sites, (2) granting of access which was requested through consultation with local Aboriginal Elders and through the local Aboriginal Lands Council, (3) conducting of interviews with participants/ data collection, (4) analysis of data, (5) documentation of findings, (6) theory development, and (7) reporting back to the nominated Indigenous community on the progress and findings of the research. The benefits of this research are numerous. First, this study addresses an issue that has been identified from within the local Aboriginal community as an issue of high precedence, looking at the cultural factors surrounding the underrepresentation of Indigenous people accessing tertiary education. This is not only of local significance but has been identified in the literature as a local, national and international area of concern amongst Indigenous peoples (Department of Economic and Social Affairs, 2009; Herbert, 2010; King, 2011). Secondly, the study draws on local Indigenous knowledges and learning processes from within a Bundjalung community to gain inside perspectives, namely the cultural factors that are being expressed from a range of Indigenous community members – young men, community Elders and community members – and finding out what they perceive inhibit and/or promote tertiary education participation within their community. Such perspectives are rarely heard. Finally, recommendations made from this study are aimed at revealing investigative styles that may be utilised by Western institutions to improve access for Indigenous young men living in the Narlumdarlum1 region in the tertiary context.

Getting skilled for education, training and employment : Indigenous Cultural Knowledges and mainstream knowledges of mathematics

This abstract is a preliminary discussion of the importance of blending of Indigenous cultural knowledges with mainstream knowledges of mathematics for supporting Indigenous young people. This import is emphasised in the documents Preparing the Ground for Partnership (Priest, 2005), The Indigenous Education Strategic Directions 2008–2011 (Department of Education, Training and the Arts, 2007) and the National Goals for Indigenous Education (Department of Education, Employment and Work Relations, 2008). These documents highlight the contextualising of literacy and numeracy to students’ community and culture (see Priest, 2005). Here, Community describes “a culture that is oriented primarily towards the needs of the group. Martin Nakata (2007) describes contextualising to culture as about that which already exists, that is, Torres Strait Islander community, cultural context and home languages (Nakata, 2007, p. 2). Continuing, Ezeife (2002) cites Hollins (1996) in stating that Indigenous people belong to “high-context culture groups” (p. 185). That is, “high-context cultures are characterized by a holistic (top-down) approach to information processing in which meaning is “extracted” from the environment and the situation. Low-context cultures use a linear, sequential building block (bottom-up) approach to information processing in which meaning is constructed” (p.185). In this regard, students who use holistic thought processing are more likely to be disadvantaged in mainstream mathematics classrooms. This is because Westernised mathematics is presented as broken into parts with limited connections made between concepts and with the students’ culture. It potentially conflicts with how they learn. If this is to change the curriculum needs to be made more culture-sensitive and community orientated so that students know and understand what they are learning and for what purposes.

Indigenous knowledge and effective parent / school partnerships : insights and issues from 4 school case studies

Towards the last decade of the last millennium, Indigenous knowledge has been central to scholarly debates relating to decolonising knowledge on a global level. Much of these debates were advanced by Indigenous scholars in colonised countries particularly Australia, New Zealand, Canada and the United States. Indigenous scholars argue for the location of Indigenous knowledge as the epistemological standpoint (Battiste, Bell and Findlay, 2002; Kai’a, 2005; Nakata 2002, 2007) for intellectual engagements and methodology for resisting colonial constructions of the colonised other (Rigney, 1997; Smith, 1999, 2005). However, the challenge to engage Indigenous knowledge to inform research and educational processes, in many respects, is still a contested debate in western-oriented universities and institutions of higher education. The place of Indigenous knowledge in Australian secondary and primary schools remains vague, while efforts to embed Indigenous perspectives in the curriculum continue to be made by both government and private educational providers. Educational funding for Indigenous education continues to operate from a ‘deficiency’ model, whereby educational outcomes are often measured against set criteria, reflecting a pass/fail structure, than a more comprehensive investigation of educational outcomes and quality of learning experiences. Teacher knowledge, effective parental and community engagement into students’ learning and students’ experiences of schooling continue to be secondary to students’ final results. This paper presents preliminary findings of Parent School Partnership Initiative (PSPI) project conducted by the Oodgeroo Unit at the Queensland University of Technology in partnerships with the Aboriginal and Torres Strait Islander Education Focus Group for the Caboolture Shire, in South East Queensland. The state government sponsored initiative was to examine factors that promote and enhance parent/school engagement with their students’ schooling, and to contribute to Aboriginal and Torres Strait Islander students’ learning and completion of secondary schooling within the participating schools in a more holistic way. We present four school case studies and discuss some of the early findings. We conclude by arguing the importance of the recognition of Indigenous knowledge and its place in enhancing parent – schools partnerships.

Languages of Communication : Indigenous language and/or English?

My interest in producing this paper on Indigenous languages was borne out of conversations with and learnings from community members in the Torres Straits and those connected to the ‘Dream Circle’. Nakata (2003, p. 12) laments the situation whereby ‘teachers are transitionary and take their hard-earned knowledge with them when they leave’. I am thus responding to the call to add to the conversation in a productive albeit culturally loaded way. To re-iterate, I am neither Indigenous nor am I experienced in teaching and learning in these contexts. As problematic as these two points are, I am in many ways typical of the raft of inexperienced white Australian teachers assigned to positions in school contexts where Indigenous students are enrolled or in mainstream contexts with substantial populations of Indigenous students. By penning this article, it is neither my intention to contribute to the silencing of Indigenous educators or Indigenous communities. My intention is to articulate my teacherly reflections as they apply to the topic under discussion. The remainder of this paper is presented in three sections. The next section provides a brief overview of the number of Indigenous people and Indigenous languages in Australia and the role of English as a language of communication. The section which follows draws on theorisations from second/additional language acquisition to overview three different schools of thought about the consequences of English in the lives of Indigenous Australians. The paper concludes by considering the tensions for inexperienced white Australian teachers caught up in the fray.

Pre-service teachers' pedagogical relationships and experiences of embedding Indigenous Australian knowledge in teaching practicum

This paper argues from the standpoint that embedding Indigenous knowledge and perspectives in Australian curricula occurs within a space of tension, ‘the cultural interface’ (Nakata, 2002), in negotiation and contestation with other dominant knowledge systems. In this interface, Indigenous knowledge (IK) is in a state of constancy and flux, invisible and simultaneously pronounced depending on the teaching and learning contexts. More often than not, IK competes for validity and is vexed by questions of racial and cultural authenticity, and therefore struggles to be located centrally in educational systems, curricula and pedagogies. Interrogating normative western notions of what constitutes authentic or legitimate knowledge is critical to teaching Indigenous studies and embedding IK. The inclusion (and exclusion) of IK at the interface is central to developing curriculum that allows teachers to test and prod, create new knowledge and teaching approaches. From this perspective, we explore Indigenous Australian pre-service teachers’ experiences of pedagogical relationships within the teaching habitus of Australian classrooms. Our study is engaged with the strategic transgressions of praxis. We contend that tensions that participant Indigenous Australian pre-service teachers experience mirror the broader (and unresolved) political status of Indigenous people and thus where and why IK is strategically deployed as ‘new’ or ‘old knowledge within Australian liberal democratic systems of curriculum and schooling. It is significant to discuss the formation and transformation of the pedagogical cultural identity of the teaching profession within which Indigenous and non-Indigenous pre-service teachers are employed.

Exploring the experiences of embedding Indigenous knowledge and perspectives on teaching practicum through interpretive phenomenology

In this paper, we discuss interpretive/hermeneutic phenomenology as a theoretical approach to explore the experiences of three stakeholder groups in embedding Indigenous knowledge and perspectives on teaching practicum, a project sponsored by ALTC. We begin by asking the phenomenological question ‘what is your experience of practice teaching?’ An open, explorative, phenomenological framework seeks the meanings of experiences, not truths, from the participants’ words themselves. Interpretive phenomenology is particularly suitable to explore educational experiences (Grumet, 1992; M. van Manen, 1990), as it provides rich ground for listening to the stakeholders’ lived experience and documenting it for interpretation. In an interpretive process, perspectives on lifeworlds, worldview and lenses get highlighted (Cunningham & Stanley, 2003). We establish how through various project stages, interpretive phenomenology gets to the essence of practice teaching experience creating a pedagogical ‘understanding’ of the essential nature of shared experience as lived by the participants (M van Manen, 2002). Thereby, it foregrounds voices of agency, dissent, acceptance and resistance. We consider how our research study focuses on the pedagogic voice of Indigenous pre-service teachers and the recognition of complex pedagogic fields in Indigenous education. We explain how this study seeks insights into their evaluation of pedagogic relations with two other education stakeholders – their practicum supervising teachers at schools and university staff involved practicum experience. As such, our study aims to support and develop long term, future-oriented opportunities for Indigenous pre-service teachers to embed Indigenous knowledge in the curricula. We conclude with some projections into the discourse on how Indigenous knowledge (IK) and perspectives might be diversely exemplified in pre-service teachers’ professional works (particularly E-portfolios). We speculate how this change could in turn maximise opportunities for Indigenous pre-service teachers, their supervising teachers and university staff to demonstrate leadership in their field through the creation of future tangible products such as units of work, resources, assessment and reflection tools. The processes contextualising the cultural interface of competing knowledge systems (Nakata, 2007) provide important analytical tools for understanding issues affecting student-teacher-mentor relationships occurring on practicum.

‘Crack in the pavement’ : pedagogy as political and moral practice for educating culturally competent professionals

This paper explores the reception of Indigenous perspectives and knowledges in university curricula and educators’ social responsibility to demonstrate cultural competency through their teaching and learning practices. Drawing on tenets of critical race theory, Indigenous standpoint theory and critical pedagogies, this paper argues that the existence of Indigenous knowledges in Australian university curricula and pedagogy demands personal and political activism (Dei, 2008) as it requires educators to critique both personal and discipline-based knowledge systems. The paper interrogates the experiences of non-Indigenous educators involved in this contested epistemological space (Nakata, 2002), and concludes by arguing for a political and ethical commitment by educators towards embedding Indigenous knowledges towards educating culturally competent professionals.