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Handbook of Craniofacial Measurements Chapter 7 Craniofacies INTRODUCTION The face is unique, both because of variability in size and shape and because of ability to demonstrate personal expression and emotion. Movements around the eyes and mouth contribute to the overall gestalt. Evaluation of the craniofacies is complex. The development of the shape of the human head and face depends on a variety of interactive genetic and environmental fac- tors. Intrinsic or extrinsic pressure and neuromuscular function con- tribute to the overall shape. To accurately define what is different in the individual with dysmorphic craniofacial features is a challenge. The nomenclature used to describe facial findings has been standard- ized (Carey et al., 2009; Hall et al., 2009; Hennekam et al., 2009; Hunter et al., 2009). Comprehensive anthropometric descriptions have become available for many conditions for which data were pre- viously lacking, and standards have been developed for several dis- orders so that affected children can be compared with their similarly affected peers and normal individuals. For practical purposes, in this text, we have limited the craniofa- cial measurements to those we find useful. The reader will find fur- ther details in references at the end of this chapter. Development of the face from five facial primordia appearing around the stomodeum or primitive mouth occurs mainly between the fifth and eighth weeks of gestation. The five facial primordia con- Copyright © 2013. Oxford University Press, Incorporated. All rights reserved. All rights Press, Incorporated. © 2013. Oxford University Copyright sist of the frontonasal prominence, the paired maxillary prominences of the first branchial arch, and the paired mandibular prominences of 86 Gripp, Karen W., et al. Handbook of Physical Measurements, Oxford University Press, Incorporated, 2013. ProQuest Ebook Central, http://ebookcentral.proquest.com/lib/wrmmc-ebooks/detail.action?docID=1481010. Created from wrmmc-ebooks on 2018-12-26 12:06:55. CRANIOFACIES the first branchial arch. The frontonasal prominence forms the fore- head and the dorsum and apex of the nose. The alae nasi are derived from the lateral nasal prominences. The fleshy nasal septum and the philtrum are formed by the medial nasal prominences. The maxillary prominences form the upper cheek regions and most of the upper lip. The mandibular prominences give rise to the lower lip, the chin, and the lower cheek regions. The primitive lips and cheeks are invaded by mesenchyme from the second branchial arch which give rise to the facial muscles. These muscles of facial expression are supplied by the facial nerve. The mes- enchyme of the first pair of branchial arches develops into the mus- cles of mastication, which are innervated by the trigeminal nerve. Abnormal development of the components of the first branchial arch results in various congenital malformations of the eyes, ears, man- dible, and palate. Development of the face, lips, tongue, jaws, palate, pharynx, and neck largely involves transformation of the branchial apparatus into adult structures. Most congenital malformations of the head and neck originate during that transformation (e.g., bran- chial cysts, sinuses, fistulae). The development of the face and pal- ate is complicated and congenital malformations resulting from an arrest of development and/or a failure of fusion of the prominences and processes are not uncommon. Growth of the face and jaws can coincide with the eruption of the deciduous teeth. These changes are even more marked after the per- manent teeth erupt. There is concurrent enlargement of the frontal and facial regions associated with an increase in size of the perina- sal air sinuses, which are generally rudimentary or absent at birth. Growth of the sinuses is important in altering the shape of the face. Measurement of the craniofacies requires only a few standard instruments: sliding and spreading calipers and a tape measure. In addition, a modified protractor and an instrument to determine ear location and angulation are useful but not essential. A general rule when measuring between two soft tissue landmarks is that the hard Copyright © 2013. Oxford University Press, Incorporated. All rights reserved. All rights Press, Incorporated. © 2013. Oxford University Copyright tips of the calipers touch but do not press on the skin surface. In con- trast, when measuring between bony landmarks, the blunt pointers 87 Gripp, Karen W., et al. Handbook of Physical Measurements, Oxford University Press, Incorporated, 2013. ProQuest Ebook Central, http://ebookcentral.proquest.com/lib/wrmmc-ebooks/detail.action?docID=1481010. Created from wrmmc-ebooks on 2018-12-26 12:06:55. HANDBOOK OF PHYSICAL MEASUREMENTS of the calipers are presented against the bony surface. When mea- suring the circumference, the length, or the width of the head, the examiner must be certain that the metric tape or the tips of the cali- pers are sufficiently pressed against the skull to eliminate the effect of thick hair cover. Accurate measurement requires correct use of the instrument and knowledge of the landmark. For this reason, we have provided detailed explanations of measurement techniques and pit- falls for each particular parameter. For measurement of the craniofacies, it is often easiest to have the head resting on a head support from a chair. However, this is not always possible in the clinic. If necessary, an assistant may gently hold the subject's head. Full exposure of the soft nose (alar shape, columella, nasal floor, nostrils) in the frontal plane is facilitated if the head is in the reclining position. Orbital measurements are most easily obtained when the patient's body is supine with the eyes gaz- ing straight up to the ceiling and the plane of the facial profile in the vertical. The standard orientation of the head for craniofacial measure- ment is the Frankfort horizontal (FH). In this position, the line connecting the lowest point on the lower margin of each bony orbit (orbitale) and the highest point on the upper margin of the cutane- ous external auditory meatus (porion) is horizontal. When the sub- ject is recumbent, the FH becomes vertical. An alternative head position (the rest position) is determined by the subject's own feeling of the natural head balance. In healthy persons, in the rest position, the inclination of the line connecting the orbitale and the porion (ear opening) is about 5 degrees higher than it is in the FH. Since the subject's head tends to return to the rest position during examination, head position must be rechecked before each measurement. Correct positioning techniques and use of standard landmarks are important not only for the evaluation of the normal face but particularly in the assessment of subjects with a cra- nial or facial anomaly. The most common palpable landmarks of the Copyright © 2013. Oxford University Press, Incorporated. All rights reserved. All rights Press, Incorporated. © 2013. Oxford University Copyright craniofacies are shown in Figure 7.1, and a full definition of each of these landmarks is presented in the Glossary. Gripp, Karen W., et al. Handbook of Physical Measurements, Oxford University Press, Incorporated, 2013. ProQuest Ebook Central, http://ebookcentral.proquest.com/lib/wrmmc-ebooks/detail.action?docID=1481010. Created from wrmmc-ebooks on 2018-12-26 12:06:55. CRANIOFACIES Figure 7.1. Palpable landmarks of craniofacies. An alternative approach to craniofacial measurement involves a photoanthropometric method using frontal and profile photographs. Photographs are standardized (one-fifth, one-fourth, one-third, one-half, or life-size) for quantification of surface features and Copyright © 2013. Oxford University Press, Incorporated. All rights reserved. All rights Press, Incorporated. © 2013. Oxford University Copyright to allow scientific, accurate documentations. Some centers prefer to have the patient standing, while other researchers have developed 89 Gripp, Karen W., et al. Handbook of Physical Measurements, Oxford University Press, Incorporated, 2013. ProQuest Ebook Central, http://ebookcentral.proquest.com/lib/wrmmc-ebooks/detail.action?docID=1481010. Created from wrmmc-ebooks on 2018-12-26 12:06:55. HANDBOOK OF PHYSICAL MEASUREMENTS complex machinery to keep the patient in a fixed position at a defined distance from the camera. Details and sources of error are available in articles listed in the Bibliography. Another approach to craniofacial measurement involves cranio- facial pattern profile analysis, which provides a simple and readily understandable method of classifying, illustrating, and comparing pattern deviations from the normal state. Measurements taken from radiographs of the head and face are converted into normal- ized z scores (standard deviation units), and the pattern profile can be presented in a simple graphic form. The reader is directed to the Bibliography at the end of this chapter for further details. The fourth approach to craniofacial measurement, cephalom- etry, employs radiography. Further details may be found in the Bibliography at the end of this chapter. With the advance of three-dimensional reconstruction of com- puted tomography (CT) images, this technology is increasingly tak- ing the place of two-dimensional cephalometric images (Varghese et al., 2010). Because three-dimensional CT images can be rotated and manipulated on the computer screen, they allow for a more detailed evaluation of craniofacial morphology. A newer approach to document the three-dimensional surface of the
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