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Classification and Terminology
Classification and Terminology
Understanding Craniofacial Anomalies: The Etiopathogenesis of Craniosynostoses and Facial Clefting, Edited
by Mark P. Mooney and Michael I. Siegel, ISBN 0-471-38724-X Copyright © 2002 by Wiley-Liss, Inc.
CHAPTER 1
Understanding Craniofacial Anomalies: The Etiopathogenesis of Craniosynostoses and Facial Clefting, Edited
by Mark P. Mooney and Michael I. Siegel, ISBN 0-471-38724-X Copyright © 2002 by Wiley-Liss, Inc.
3
4 OVERVIEW AND INTRODUCTION
Figure 1.1 Extremes in human head form shape (brachycephaly, mesocephaly, and dolichocephaly).
CRANIOFACIAL DYSMORPHOLOGY 5
As can be seen, there is a wide spectrum multiple anomalies represent the earliest or
of human craniofacial morphologies that primary defect in morphogenesis and if all
are all within the range of normal human of the anomalies can be traced to a single
variation. This diversity is produced by an problem in morphogenesis. Knowledge of
interaction of normal genetic and epige- these relationships is instrumental in deter-
netic factors such as developmental mining the etiology of craniofacial anom-
acclimatizations to extreme environments alies, understanding the pathogenesis of
(Enlow, 1990; Steegman, 1970; Harrison et these conditions, assessing recurrence risks,
al., 1988; Bogin, 1988). It has also been sug- and designing therapies and managements
gested that populations with certain mor- for the prevention and treatment of these
phologies may be predisposed or at risk for cases (Ross and Johnston, 1978; Melnick
craniofacial anomalies based, in part, on and Jorgenson, 1979; Melnick et al., 1980;
facial, palatal, or cranial vault growth rates David et al., 1982; Marsh and Vannier, 1985;
and morphologies (Burdi et al., 1972; Vig and Burdi, 1988; Jones, 1988; Persing et
Juriloff and Trasler, 1976; Trasler and al., 1989; Sperber, 1989, 2001; Morris and
Machado, 1979; Ross and Johnston, 1978; Bardach, 1990; Gorlin et al., 1990; Montoya,
Siegel and Mooney, 1986; Johnston and 1992; Turvey et al., 1996; Cohen, 1997;
Bronsky, 1995; Vergato et al., 1997). This Cohen and MacLean, 2000; Posnick, 2000;
underlying phenotypic variability makes Malek, 2001; Wyszynski, 2001).
the study and treatment of human cranio- Craniofacial anomalies can be divided
facial pathologies and dysmorphologies into three categories: malformations, defor-
difficult and problematic but very exciting mations, and disruptions (Spranger et al.,
and challenging nonetheless. 1982; Jones, 1988; Cohen, 1997) (Table 1.1;
Fig. 1.2). Malformations are morphological
defects of an organ, part of an organ, or a
1.3 CRANIOFACIAL larger region of the body resulting from
DYSMORPHOLOGY an intrinsically abnormal developmental
process. Deformations are abnormal for-
An understanding of craniofacial anom- mations or positioning of a part of the body
alies involves an appreciation of both the caused by nondisruptive mechanical forces.
underlying, wide spectrum of normal cran- Disruptions are morphological defects of
iofacial morphology and the overlying or an organ, part of an organ, or a larger
interfering dysmorphology. Jones (1988) region of the body resulting from a break-
and Cohen (1997) suggest that craniofacial down of, or an interference with, an origi-
anomalies should be interpreted from the nally normal developmental process (Table
viewpoint of developmental anatomy and 1.1).
pathology (see also Chapters 4 and 5). It Depending on the developmental timing
is important to determine which of the and severity of the primary craniofacial
Figure 1.2 Different morphogenetic pathways producing normal and abnormal craniofacial morphologies.
either growth centers or growth sites. The 1996; Jones, 1988; Montoya, 1992; Cohen,
resultant craniofacial dysmorphogenesis 1997) and specialized (Ross and Johnston,
and the ability to surgically correct it will 1978; Melnick et al., 1980; David et al., 1982;
vary depending on location. A comparison Marsh and Vannier, 1985; Vig and Burdi,
of the various features of these structural 1988; Sperber, 1989, 2001; Persing et al.,
defects is presented in Table 1.2 and Figure 1989; Gorlin et al., 1990; Morris and
1.2. Bardach, 1990; Turvey et al., 1996; Cohen
and MacLean, 2000; Malek, 2001; Posnick,
2000; Wyszynski, 2001) textbooks available.
1.4 CONCLUSIONS Instead, our intent is to provide an appre-
ciation of the interaction of these processes
Normal human craniofacial morphology as an adjunct to understanding the etio-
develops as a complex consequence of pathogenesis and research paradigms of
genetic and environmental interactions. In craniofacial anomalies as presented in the
contrast, craniofacial anomalies may occur following chapters.
as a result of early embryonic problems in
tissue formation or later biomechanical or
disruptive problems with normally differ- 1.5 ACKNOWLEDGMENTS
entiated fetal tissue. Subsequent, secondary
craniofacial anomalies are typically a con- This work was supported in part by a Com-
sequence as well. These dysmorphologies prehensive Oral Health Research Center
occur over a normal developmental of Discovery (COHRCD) program/project
substrate. grant from NIH/NIDCR (P60 DE13078) to
This chapter presents a short introduc- the Center for Craniofacial Development
tion into normal and abnormal craniofacial and Disorders, Johns Hopkins University,
morphology. It is not our intent to present Baltimore, and a publication assistance
an exhaustive discussion of these topics, award from the Richard D. and Mary Jane
since there are many excellent generalized Edwards Endowed Publication Fund,
(Melnick and Jorgenson, 1979; Melnick et Faculty of Arts and Sciences, University of
al., 1980; Enlow, 1990; Enlow and Gans, Pittsburgh.
8 OVERVIEW AND INTRODUCTION
Spranger, J. W., Benirschke, K., Hall, J. G., Lenz, Turvey, T. A., Vig, K. W. L., and Fonseca, R. L.
W., Lowry, R. B., Opitz, J. M., Pinsky, L., (1996). Facial Clefts and Craniosynostosis:
Schwarzacher, H. G., and Smith, D. W. (1982). Principles and Management (Philadelphia:
Errors of morphogenesis: concepts and W. B. Saunders).
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Steegman, A. T., Jr. (1970). Cold adaptation and Siegel, M. I. (1997). Mouse palatal width
the human face. Am. J. Phys. Anthrop. 32, growth rates as an “at risk” factor in the
243–250. development of cleft palate induced by
hypervitaminosis A. J. Craniofac. Genet.
Stockard, C. R. (1941). The Genetic and Devel. Biol. 17, 204–210.
Endocrine Basis for Differences in Form and Vig, K. W. L., and Burdi, A. R. (eds.) (1988).
Behavior. American Anatomical Memoirs 19 Craniofacial Morphogenesis and Dysmor-
(Philadelphia: Wistar Institute of Anatomy phogenesis, Craniofacial Growth Series
and Biology Press). Monograph 21 (Ann Arbor, MI: Center of
Trasler, D. G., and Machado, M. (1979). Human Growth and Development).
Newborn and adult face shapes related to Wyszynski, D. F. (ed.) (2001). Cleft Lip and
mouse cleft lip predisposition. Teratology 19, Palate: From Origin to Treatment (Oxford:
197–206. Oxford University Press).