David Gillett

The Facial Evolution: Looking Backward and Moving Forward

Three‐dimensional  (3D) facial analysis is ideal for high‐resolution, nonionizing, noninvasive objective, high‐throughput phenotypic, and phenomic studies. It is a natural complement to (epi)genetic technologies to facilitate advances in the understanding of rare and common diseases. The face is uniquely reflective of the primordial tissues, and there is evidence supporting the application of 3D facial analysis to the investigation of variation and disease including studies showing that the face can reflect systemic health, provides diagnostic clues to disorders, and that facial variation reflects biological pathways. In addition, facial variation has been related to evolutionary factors. The purpose of this review is to look backward to suggest that knowledge of human evolution supports, and may instruct, the application and interpretation of studies of facial morphology for documentation of human variation and investigation of its relationships with health and disease. Furthermore, in the context of advances of deep phenotyping and data integration, to look forward to suggest approaches to scalable implementation of facial analysis, and to suggest avenues for future research and clinical application of this technology.

Phenotyping: Targeting genotype’s rich cousin for diagnosis

There are many current and evolving tools to assist clinicians in their daily work of phenotyping. In medicine, the term ‘phenotype’ is usually taken to mean some deviation from normal morphology, physiology and behaviour. It is ascertained via history, examination and investigations, and a primary aim is diagnosis. Therefore, doctors are, by necessity, expert ‘phenotypers’. There is an inherent and partially realised power in phenotypic information that when harnessed can improve patient care. Furthermore, phenotyping developments are increasingly important in an era of rapid advances in genomic technology. Fortunately, there is an expanding network of phenotyping tools that are poised for clinical translation. These tools will preferentially be implemented to mirror clinical workflows and to integrate with advances in genomic and information‐sharing technologies. This will synergise with and augment the clinical acumen of medical practitioners. We outline key enablers of the ascertainment, integration and interrogation of clinical phenotype by using genetic diseases, particularly rare ones, as a theme. Successes from the test bed or rare diseases will support approaches to common disease.

Mandibular distraction osteogenesis and maxillary osteotomy in a class II division 1 patient with chronic juvenile arthritis.

A patient with juvenile chronic arthritis presented with a malocclusion characterized by mandibular hypoplasia, symphysial deficiency, and an increased mandibular occlusal plane angle. Correction of the mandibular defect required both the horizontal advancement of the mandible and a counterclockwise rotation of the proximal segment to reduce the mandibular occlusal plane angle. This was achieved by a combination of distraction osteogenesis to horizontally advance the mandible (14 mm), followed by manipulation of the postdistraction regenerate to reduce the mandibular occlusal plane and increase the symphysial projection. The counterclockwise rotation of the mandibular body resulted in the creation of a posterior open bite. After a three-month period to allow consolidation of the mandibular distraction osteogenesis, secondary maxillary surgery at the Le Fort 1 level was performed to reestablish maxillary occlusal contact at the new mandibular occlusal plane. A genioplasty was also performed to improve chin projection.

Dental arch relationship outcomes in children with complete unilateral cleft lip and palate treated at Princess Margaret Hospital for Children, Perth, Western Australia.

Objectives To (1) audit dental arch relationships of all children born between 1982 and 1999 with complete unilateral cleft lip and palate (UCLP) treated at the Cleft Lip and Palate Unit, Princess Margaret Hospital for Children (PMH), Perth, Western Australia, (2) assess the distribution of GOSLON ratings from dental casts taken at 9 years, (3) compare the 9-year GOSLON ratings for “High” and “Low” caseload surgeons, and (4) compare the 9-year PMH GOSLON ratings with published ratings from other units. Design Retrospective audit of dental casts and medical charts. Patients Dental casts were retrieved for 71 children (47 boys and 24 girls) at 9 years of age. Main Outcome Measures GOSLON ratings. Results Sixty-eight percent of patients had an excellent to satisfactory dental arch relationship (GOSLON Yardstick ratings 1 to 3) at 9 years with a mean rating of 2.85. High caseload surgeons achieved statistically better mean GOSLON ratings than low caseload surgeons (2.72 and 3.33, respectively). Conclusions PMH Cleft Units dental arch relationship outcomes are comparable to published series of units using similar treatment protocols. High caseload surgeons achieved better dental arch relationships than low caseload surgeons.

Hospitalisations up to adulthood for children born with orofacial clefts.

The aim of this study was to compare hospital admissions from infancy to adulthood, between children born with orofacial clefts (OFC) and those without OFC.

Re.: Dental arch relationship outcomes in children with complete unilateral cleft lip and palate.

I write to say how much I enjoyed reading Bernard Beatty’s article ‘The Byron Journal at Forty’ (40.2, pp. 103–13). Having read most of the contents of the journal from its first issue in 1973 to the present day I thought it summed up those years splendidly. As a non-academic I endorse what he had to say. I was especially pleased to read his comments on Elma Dangerfield and I thought that Bernard chose his words very well. I met Elma many times over those past forty years and certainly she could appear intimidating to anyone that she did not know. Elma was one of those persons who chose to go on the offensive when dealing with someone for the first time – as if to test their mettle! If you withstood this initial onslaught, and sadly many did not, then you could enjoy a much more cordial relationship based on mutual respect and trust. I talked to her a number of times, especially around 1988 when we formed The Newstead Abbey Byron Society and these talks were conducted in a positive and friendly manner. You could not, however, take her compliance for granted and she would home in, with vigour, on any point which you had not thought particularly important. This was her way and sometimes it bore fruit and sometimes it had the opposite effect. However, I can say that she succeeded in her efforts and I admired her tenacity. She well earned her right to become the first lady of The Byron Society and of the journal. Having assured her that our intentions were to work with her rather than in opposition, we gained her blessing and full support. What prompted me to write to you is to say that I have, what I consider to be, a wonderful ‘action’ photograph of Elma at Newstead Abbey, taken in the early 1990s. It was taken by me and has been in my Byron archive ever since. I thought it would be a fitting tribute to her if you would consider publishing it in the journal for all to see. I also read with interest Geoffrey Bond’s obituary of Derek Wise, who I also met and talked with on a number of occasions, particularly on a Byron Society visit to Greece in 1999. I enclose too a photograph, taken at the ruins at Sounion on that occasion, of The Earl of Lytton with Derek and myself enjoying some Greek sunshine. It shows Derek enjoying himself ‘away from the office’. Byron wrote memorably of Sounion in the ‘Isles of Greece ’ in Don Juan Canto III: Letter to the Editor