The use of 3D face shape modelling in dysmorphology

Facial appearance can be a significant clue in the initial identification of genetic conditions, but their low incidence limits exposure during training and inhibits the development of skills in recognising the facial “gestalt” characteristic of many dysmorphic syndromes. Here we describe the potential of computer-based models of three-dimensional (3D) facial morphology to assist in dysmorphology training, in clinical diagnosis and in multidisciplinary studies of phenotype–genotype correlations.

[1]  R E Ward,et al.  Craniofacial variability index: a simple measure of normal and abnormal variation in the head and face. , 1998, American journal of medical genetics.

[2]  A F Ayoub,et al.  Applications of 3D Imaging in Orthodontics: Part II , 2004, Journal of orthodontics.

[3]  V. Ferrario,et al.  Soft tissue facial angles in Down's syndrome subjects: a three-dimensional non-invasive study. , 2005, European journal of orthodontics.

[4]  A. Karmiloff-Smith,et al.  Discriminating power of localized three-dimensional facial morphology. , 2005, American journal of human genetics.

[5]  Christoph von der Malsburg,et al.  Computer-based recognition of dysmorphic faces , 2003, European Journal of Human Genetics.

[6]  Qifeng Lu,et al.  Detecting Acromegaly: Screening for Disease with a Morphable Model , 2006, MICCAI.

[7]  K F Moos,et al.  A vision-based three-dimensional capture system for maxillofacial assessment and surgical planning. , 1998, British Journal of Oral and Maxillofacial Surgery.

[8]  Tim Hutton,et al.  Reproducibility of soft tissue landmarks on three-dimensional facial scans. , 2006, European journal of orthodontics.

[9]  J. Waddington,et al.  Facial shape and asymmetry by three-dimensional laser surface scanning covary with cognition in a sexually dimorphic manner. , 2006, The Journal of neuropsychiatry and clinical neurosciences.

[10]  Kristina Aldridge,et al.  Precision and error of three‐dimensional phenotypic measures acquired from 3dMD photogrammetric images , 2005, American journal of medical genetics. Part A.

[11]  C. Cacou.  Anthropometry of the head and face , 1995 .

[12]  Peter Hammond,et al.  Estimating average growth trajectories in shape-space using kernel smoothing , 2003, IEEE Transactions on Medical Imaging.

[13]  I. Krantz,et al.  Facial features in Alagille syndrome , 2004 .

[14]  A E Peterson,et al.  Assessment of soft tissue facial asymmetry in medically normal and syndrome-affected individuals by analysis of landmarks and measurements. , 2000, American journal of medical genetics.

[15]  J E Allanson,et al.  Objective techniques for craniofacial assessment: what are the choices? , 1997, American journal of medical genetics.

[16]  Delineation of facial archetypes by 3d averaging. , 2004, Annals of the Royal Australasian College of Dental Surgeons.

[17]  Tobias Vollmar,et al.  Syndrome identification based on 2D analysis software , 2006, European Journal of Human Genetics.

[18]  Thomas Vetter,et al.  Face Recognition Based on Fitting a 3D Morphable Model , 2003, IEEE Trans. Pattern Anal. Mach. Intell..

[19]  Fred L Bookstein,et al.  A three-dimensional morphometric study of craniofacial shape in schizophrenia. , 2005, The American journal of psychiatry.

[20]  Peter Hammond,et al.  GTF2IRD1 in Craniofacial Development of Humans and Mice , 2005, Science.

[21]  I. Krantz,et al.  Facial features in Alagille syndrome: specific or cholestasis facies? , 2002, American journal of medical genetics.

[22]  Damian Schofield,et al.  Three-Dimensional Computer Visualization of Forensic Pathology Data , 2004, The American journal of forensic medicine and pathology.

[23]  R. Hennekam,et al.  3D analysis of facial morphology , 2004, American journal of medical genetics. Part A.

[24]  A. Peterson,et al.  Technical note: Different techniques, different results--a comparison of photogrammetric and caliper-derived measurements. , 1998, American journal of physical anthropology.

[25]  Christoph Bert,et al.  Clinical experience with a 3D surface patient setup system for alignment of partial-breast irradiation patients. , 2006, International journal of radiation oncology, biology, physics.

[26]  R Sader,et al.  Computer aided surgical reconstruction after complex facial burn injuries -- opportunities and limitations. , 2005, Burns : journal of the International Society for Burn Injuries.

[27]  C. Nduka,et al.  Objective Assessment of Keloid Scars with Three-Dimensional Imaging: Quantifying Response to Intralesional Steroid Therapy , 2007, Plastic and reconstructive surgery.

[28]  R. Hennekam,et al.  Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience , 2005, Journal of Medical Genetics.

[29]  C. Sabatti,et al.  The Human Phenome Project , 2003, Nature Genetics.

[30]  Minolta Vivid,et al.  Facial templates : a new perspective in three dimensions , 2006 .

[31]  J. C. Carey.  A species not extinct: Publication of case reports and scientific knowledge , 2006 .

[32]  C Sforza,et al.  Morphometry of the ear in Down's syndrome subjects. A three-dimensional computerized assessment. , 2005, International journal of oral and maxillofacial surgery.

[33]  P. Hammond,et al.  Three-dimensional face shape in Fabry disease , 2007, European Journal of Human Genetics.

[34]  K. Bush,et al.  Three-dimensional facial anthropometry using a laser surface scanner: validation of the technique. , 1996, Plastic and reconstructive surgery.

[35]  Robin J. Hennessy,et al.  3D morphometrics of craniofacial dysmorphology reveals sex-specific asymmetries in schizophrenia , 2004, Schizophrenia Research.

[36]  Ashwin B. Dalal,et al.  Morphometric analysis of face in dysmorphology , 2007, Comput. Methods Programs Biomed..

[37]  S. Richmond,et al.  Reliability of measuring facial morphology with a 3-dimensional laser scanning system. , 2005, American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics.

[38]  L. Biesecker,et al.  Mapping phenotypes to language: a proposal to organize and standardize the clinical descriptions of malformations , 2005, Clinical genetics.