Objective techniques for craniofacial assessment: what are the choices?

The approach to an individual with unusual facial appearance has traditionally involved a subjective assessment coupled with a few craniofacial measurements. Our ability to describe facial morphology has improved in recent years through the development of new techniques such as computerized tomography, magnetic resonance imaging, ultrasound studies, and stereoscopic imaging. However, the relatively simpler techniques of anthropometry, cephalometry, and photogrammetry, developed prior to the advent of microchips and imaging software, continue to provide unique advantages not afforded by these technically more sophisticated methods. These objective methods should enhance pattern recognition, particularly in rare syndromes, and allow for earlier diagnosis.

[1]  J. Friedman,et al.  Williams syndrome in adults. , 1992, American journal of medical genetics.

[2]  J H DiLiberti,et al.  Photogrammetric evaluation in clinical genetics: theoretical considerations and experimental results. , 1991, American journal of medical genetics.

[3]  L. Farkas,et al.  Is photogrammetry of the face reliable? , 1980, Plastic and reconstructive surgery.

[4]  S. Washburn,et al.  Photography: an anthropometric tool. , 1952, American journal of physical anthropology.

[5]  J A McNamara,et al.  A method of cephalometric evaluation. , 1984, American journal of orthodontics.

[6]  L. Farkas,et al.  Growth and development of regional units in the head and face based on anthropometric measurements. , 1992, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

[7]  J. Allanson,et al.  Follow-up study of patients with Wiedemann-Beckwith syndrome with emphasis on the change in facial appearance over time. , 1994, American journal of medical genetics.

[8]  R. Malina,et al.  Manual of Physical Status and Performance in Childhood , 1983, Springer US.

[9]  J. Allanson Rubinstein-Taybi syndrome: the changing face. , 2005, American journal of medical genetics. Supplement.

[10]  B. H. Smith,et al.  Quantification of dysmorphogenesis: pattern variability index, sigma z. , 1985, AJR. American journal of roentgenology.

[11]  R. O. Davis,et al.  Black-White Differences in Newborn Anthropometric Measurements , 1991, Obstetrics and gynecology.

[12]  M. Sharland,et al.  Photoanthropometric study of facial growth in Noonan syndrome. , 1993, American journal of medical genetics.

[13]  B. Smith,et al.  Applications of pattern profile analysis to malformations of the head and face. , 1984, Radiology.

[14]  Michael L. Riolo,et al.  An Atlas of craniofacial growth : cephalometric standards from the University school growth study, the University of Michigan , 1974 .

[15]  R. Faix Fontanelle size in black and white term newborn infants. , 1982, The Journal of pediatrics.

[16]  S. Kaler,et al.  Metacarpophalangeal pattern profile analysis in clinical genetics: an applied anthropometric method. , 1986, American journal of physical anthropology.

[17]  M. Goldstein,et al.  Changes in dimensions and form of the face and head with age , 1936 .

[18]  A. Hunter Craniofacial anthropometric analysis in several types of chondrodysplasia. , 1996, American journal of medical genetics.

[19]  J. Fryns Aarskog syndrome: the changing phenotype with age. , 1992, American journal of medical genetics.

[20]  J. Posnick,et al.  Craniofacial Skeletal Measurements Based on Computed Tomography: Part I. Accuracy and Reproducibility , 1992 .

[21]  J E Allanson,et al.  Anthropometric craniofacial pattern profiles in Down syndrome. , 1993, American journal of medical genetics.

[22]  D. Weaver,et al.  A morphometric analysis of the fetal craniofacies by ultrasound: fetal cephalometry. , 1991, Journal of Craniofacial Genetics and Developmental Biology.

[23]  Thomas It,et al.  New methods for quantitative and qualitative facial studies: an overview. , 1989 .

[24]  D. J. Donnell,et al.  Facial effects of fetal alcohol exposure: assessment by photographs and morphometric analysis. , 1987, American journal of medical genetics.

[25]  Ward Re,et al.  Measurement precision and reliability in craniofacial anthropometry: implications and suggestions for clinical applications. , 1991 .

[26]  J T Richtsmeier,et al.  Comparative study of normal, Crouzon, and Apert craniofacial morphology using finite element scaling analysis. , 1987, American journal of physical anthropology.

[27]  E A Harvey,et al.  Lessons on objectivity in clinical studies. , 1994, American journal of medical genetics.

[28]  L A Farrer,et al.  Clinical anthropometry and medical genetics: a compilation of body measurements in genetic and congenital disorders. , 1986, American journal of medical genetics.

[29]  R. Ward,et al.  Anthropometric analysis of the face in hypohidrotic ectodermal dysplasia: a family study. , 1987, American journal of physical anthropology.

[30]  Judith G. Hall,et al.  Noonan syndrome: the changing phenotype. , 1985, American journal of medical genetics.

[31]  J M TANNER,et al.  The reliability of the photogrammetric method of anthropometry, with a description of a miniature camera technique. , 1949, American journal of physical anthropology.

[32]  J. Allanson,et al.  Sotos syndrome: evolution of facial phenotype subjective and objective assessment. , 1996, American journal of medical genetics.

[33]  J T Richtsmeier,et al.  Craniofacial growth in apert syndrome as measured by finite-element scaling analysis. , 1988, Acta anatomica.

[34]  D. Bixler,et al.  Quantitation of craniofacial anomalies in utero: fetal alcohol and Crouzon syndromes and thanatophoric dysplasia. , 1993, American journal of medical genetics.

[35]  J. Posnick,et al.  Craniofacial skeletal measurements based on computed tomography: Part II. Normal values and growth trends. , 1992, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

[36]  D. Weaver,et al.  Fetal Craniofacial Morphometrics: In Utero Evaluation at 16 Weeks' Gestation , 1988, Obstetrics and gynecology.