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Home > The Cleft Palate-Craniofacial Journal > January 2010 > Dermatoglyphic Analysis in Parents
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Volume 47, Issue 1
(January 2010)
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Table of Contents
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Abstract
Materials and Methods
Results
Discussion
Conclusion
Acknowledgments
References
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Volume 47, Issue 1 (January 2010)
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Abstract
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Arezoo Jahanbin, Naser Mahdavishahri, Mohammad Mahdi Naseri, Yasaman Sardari, Sareh Rezaian
(2010) Dermatoglyphic Analysis in Parents With Nonfamilial Bilateral Cleft Lip and Palate Children. The
Cleft Palate-Craniofacial Journal: Vol. 47, No. 1, pp. 9-14.
Original Articles
Dermatoglyphic Analysis in Parents With Nonfamilial Bilateral Cleft Lip and
Palate Children
Arezoo Jahanbin, D.D.S., M.S., Naser Mahdavishahri, Ph.D., Mohammad Mahdi Naseri, D.D.S.,
Yasaman Sardari, D.D.S., and Sareh Rezaian, M.Sc.
Abstract
Objectives: To test the hypothesis that unaffected parents with nonsyndromic bilateral cleft
lip and palate children possess greater levels of dermatoglyphic asymmetry than the normal
population and to test for the difference in the distribution of pattern types.
Design: Case-control study.
Setting: Mashhad University of Medical Sciences, Mashhad, Iran.
Participants: Forty-five unaffected parents (45 men and 45 women) of children with
nonfamilial bilateral cleft lip and palate anomaly were enlisted. A control group of 45
unaffected parents with at least two unaffected children and no prior family history of clefting
were also simultaneously selected.
Main Outcome Measures: Palm prints and fingerprints were taken from each participant,
and total ridge counts, atd angles, and pattern types were determined. For each of the three
dermatoglyphic measures, asymmetry scores between right and left hands were defined,
and then asymmetry scores of unaffected parents and pattern types were compared
statistically with the controls, using Mann-Whitney and chi-square tests.
Results: In contrast to total ridge count asymmetry, the asymmetry of atd angles in
unaffected parents and the asymmetry of patterns (in unaffected mothers) were significantly
higher in comparison with the controls. Furthermore, unaffected fathers had significantly
more arches than the controls, but there were no significant differences in dermatoglyphic
patterns of unaffected mothers and the controls.
Conclusion: The findings suggest that an increase in the asymmetry of atd angles and
pattern types in parents of sporadically affected children may reflect more the genetic base
of this congenital malformation.
Keywords: asymmetry, cleft, dermatoglyphics, parents
Dr. Jahanbin is Assistant Professor, Department of Orthodontics, Mashhad University of Medical
Sciences, Iran. Dr. Mahdavishahri is Professor, Department of Biology, Ferdowsi University of Mashhad,
Iran. Dr. Naseri is Senior Resident of Orthodontics, Shiraz University of Medical Sciences, Iran. Dr.
Sardari is Senior Resident of Oral Pathology, Shiraz University of Medical Sciences, Iran. Ms. Rezaian
is at Mashhad University of Payame Noor, Iran.
Address correspondence to: Dr. Arezoo Jahanbin, Orthodontic Department, Dental School, Park
Square, Mashhad, Iran. E-mail dr_arezoo_jahanbin@yahoo.com and jahanbina@mums.ac.ir.
Cleft lip with or without cleft palate (CL/P) is a common birth defect with complex etiology and a
prevalence that varies by population from 1:500 to 1:2000 (Scott et al., 2005a). In humans, the
development of primary palate and the lip is completed by the seventh week of intrauterine life and the
secondary palate by the 12th week. The dermal ridges develop in relation to the volar pads, which are
formed by the sixth week of gestation and reach maximum size between the 12th and 13th weeks
(Mathew et al., 2005).
Since Cummins' initial observation in 1939 that individuals affected with Down syndrome possess
abnormal finger and palm prints, several studies have associated altered dermatologlyphic patterns with
congenital defects, syndromes, and all other types of developmental disorders (Cummins, 1939; Reed,
1981; Jalali and Hajian-Tilaki, 2002; Neiswanger et al., 2002).
A major phenotypic indicator of developmental instability is fluctuating asymmetry, which is considered
to reflect the ability of an organism to maintain developmental stability in the face of environmental
perturbations (Naugler and Ludman, 1996; Neiswanger et al., 2002). It is known that environmental
stress (e.g., temperature and chemical stresses) will result, on average, in a phenotype that exhibits
increased fluctuating asymmetry (Parsons, 1990; Naugler and Ludman, 1996). It follows, then, that
excessive asymmetry between the dermatoglyphic patterns of the left and right hands may signify
relatively unstable genetic control during embryogenesis and in turn may contribute to the development
of congenital malformations. (Woolf and Gianas, 1977; Naugler and Ludman, 1996; Neiswanger et al.,
2002). However, despite the high prevalence of cleft lip and palate, reports investigating the relationship
between cleft lip with or without cleft palate and dermatologlyphic deviations are relatively sparse.
Most studies have used mean frequency differences between affected subjects and controls for several
dermatologlyphic traits, but a few investigations studied the dermatoglyphic traits of affected families
(Woolf and Gianas, 1977; Crawford and Sofaer, 1987; Balgir, 1993; Kobliansky et al., 1999; Neiswanger
et al., 2002; Scott et al., 2005b). Among the early studies of dermatoglyphic and CL/P subjects, Woolf
and Gianas (1976) showed that familial CL(P) patients and their unaffected relatives have increased
fluctuating asymmetry of the atd angle with sporadically affected probands; whereas, their relatives did
not.
In this regard, Kanematsu et al. (1986) showed that abnormalities in the appearance of finger and palm
prints were greater in parents of hereditary cases than in parents of sporadic cases. Kobliansky et al.
(1999) found very few dermatoglyphic differences in unaffected parents compared with controls. Scott et
al. (2005b) compared the pattern frequency differences between Filipino cases and their unaffected
relatives and controls. They found that pattern dissimilarity scores were significantly different between
individuals with CL/P patients and their unaffected relatives and between both groups and controls, with
the major effect seen in female subjects. Although Neiswanger et al. (2002) found that probands'
asymmetry scores for total ridge count (TRC) and atd angle did not differ significantly from the scores of
either unaffected relatives or controls, they found a significant increase in pattern dissimilarity in
unaffected relatives versus controls. Thus, the aim of this study was to test the hypothesis that
unaffected parents of bilateral cleft lip and palate children, who were sporadically affected, possess
greater levels of dermatoglyphic asymmetry and pattern frequency differences compared with healthy
control parents.
Materials and Methods
In this study, participants were recruited from the Cleft Lip and Palate Research Center of Mashhad
University of Medical Sciences. Study participants included 45 unaffected parents (45 fathers and 45
mothers) of children with nonfamilial bilateral cleft lip and palate, enlisted during their children's
outpatient clinic visits.
In the offsprings of the case group, cleft was an isolated anomaly (i.e., not associated with other
congenital malformations or dysmorphogenetic features); therefore, in this study, children with
syndromes or severe associated malformations were not included. If the children's history showed
possible maternal problems or diseases during pregnancy, these patients were not included in the
study.
For the control group, dermatoglyphic prints were collected from 45 unaffected parental pairs (45 fathers
and 45 mothers) with no family history of clefting and at least two healthy children who visited the
Mashhad Dental School Clinic. All of the participants were residents of Khorasan Razavi province, an
area of approximately 124,432 km2 including the city of Mashhad; therefore, no cases from other areas
of Iran were included.
Over a 9-month period, we enlisted participants to participate in the study. All subjects included in this
study were given a written informed consent form, and the study was approved by the Ethics Committee
of Mashhad University of Medical Sciences.
In this study, rolled prints of each finger and palm prints were individually taken from every subject using
the ink method, in which the digits were inked by rolling them across the ink pad one by one. Next, the
digits were transferred to a strip of paper. Then, the strip was labeled by sides (right or left) and by each
digit using Roman numerals (customarily, the thumb = I and the little finger = V).
For palmar printing, we placed a sheet of paper on top of the foam rubber pad on a flat, stable surface.
The foam pad was used to feel the concavity of the palm. Then, the wrist was placed on the bottom of
the paper, and the rest of the palm was pressed onto the paper.
Next, each digit was gently pressed to make sure it also appeared on the palm print (Durham and Plato,
1990; The American Dermatoglyphics Association, 1990).
After the completion of printing, finger print patterns were classified as arches, loops, or whorls. Then,
by drawing straight lines between the center of the fingerprint pattern and the center of the
corresponding triradius, Total ridge counts were calculated.
There are usually four triradii on each palm, one at the base of each digits II through V. These digital
triradii are traditionally labeled a, b, c, and d. There are also triradii located proximally (toward the wrist)
on the palm near to the central axis of the hand names t. Sometimes, these triradius is located higher
than usual but lower than the middle part of the palm. In this situation, this triradius is named t′. When
the triradius is located exactly in the middle point of the palm, it is named t″, and when it is located
higher than the middle point of the palm, it is named t′′′ (Schaumann and Alter, 1976; Durham and Plato,
1990; Fig. 1).
Figure 1
The positions of axial triradii (t, t′, t″).
View larger version
(79K)
There are three basic patterns to look for when taking digital prints: arch, loop, and whorl. The arch has
no triradius and is the simplest pattern. The loop has one triradius and one core, and the whorl has
usually two triradii. The TRC is calculated by the number of ridges lying between the center of the
pattern (core) and the triradius/triradii. Thus, the ridge counts of the arches are always zero because
they do not have any triradii, but whorls have two counts (Fig. 2).
View larger version
Figure 2
Loops, arches, and whorls and methods of ridge counting (left to
right).
(49K)
In this study, the ridges were counted using standard conventions, and the largest of the two ridge
counts of each finger was summed over all 10 fingers and for each hand separately (Durham and Plato,
1990). All measures were assessed by a trained rater who was blind to the subject group's status, under
the supervision of one of the authors (N.M.S.).
Finally, we measured atd angles. A is a feature of the palm that captures the relative position of three
triradii; d is usually located on the distal palm just inferior to the second and fifth fingers, respectively;
and t, whose location can vary on the proximal palm from just distal to the wrist up to the center of the
palm.
Atd angles were measured for each palm print by drawing two straight lines through the a and t triradii
and the d and t triradii, and the resulting angle was measured.
Asymmetry between right and left hands was determined for each measurement. Thus, to examine
asymmetry in pattern type, we first calculated dissimilarity scores by assigning a “0” when the fingerprint
pattern type was identical for the same digit on right and left hands and a “1” when the patterns were
different. Finally, the scores over all five pairs of digits were summed. For each individual, the
dissimilarity score could range from 0, when all five pairs of digits had identical patterns, to 5, when all
five pairs had different patterns. Following the study of Woolf and Gianas (1977), the radial and ulnar
loops were scored as identical patterns. In addition, a TRC difference score was calculated by
subtracting the TRC of the right hand from the TRC of the left hand. Similarly, a difference score for the
atd angle was calculated by subtracting the right hand atd angle from the left hand atd angle.
It should be mentioned that whenever the quality of prints for the fingers and palmar area was not
suitable for inclusion in the study, the same participants were recruited and their finger and palm prints
were retaken; therefore, the study samples available for analysis consisted of 90 women (45 unaffected
mothers and 45 controls) and 90 men (45 unaffected fathers and 45 controls).
The difference for qualitative data (dermatoglyphic patterns) was tested for its significance between
controls and unaffected parents using the chi-square test and for quantitative data (TRC, atd angle, and
pattern asymmetry) using the Mann-Whitney test. Since the distribution of quantitative data in this study
was not normal, we used nonparametric tests for the analysis. In addition, because of the
anthropometric and genetic differences between men and women, the analyses were carried out for
each sex separately. In all tests, p < .05 was used as the level of statistical significance.
Results
Means and standard deviations for TRC are shown in Table 1. According to Table 1, we identified
significant differences for TRC means for the right digit V when unaffected mothers and controls were
compared together (p = .021). However, no statistically significant group differences for the other fingers
were found in men and women.
Table 1
Mean and Standard Deviation for Total Ridge Count by Sex and Group *
View larger
version (45K)
Table 2 shows no statistically significant differences between TRC asymmetry of five fingers in
unaffected parents and control groups except for the digit I of women (p = .036). For atd angle, there
was significantly more asymmetry in the unaffected parent group when compared with the men and
women of the control group (Table 3).
Table 2
TRC Asymmetry for Five Digits According to Sex and Group *
View larger version
(30K)
Table 3
Mean and Standard Deviation for atd Angle by Sex and Group *
View larger version
(28K)
According to Table 4, the mean of the pattern dissimilarity score of unaffected fathers and mothers was
1.16 and 1.22, respectively, while in the male and female controls, it was 0.93 and 0.78, respectively.
This study showed that female controls differed significantly from mothers of affected subjects in pattern
asymmetry; whereas, male controls did not.
View larger version
Table 4
Mean and Standard Deviation for Pattern Dissimilarity Score by Sex
and Group
(10K)
Comparing the fingerprint patterns of 10 fingers in 90 cases with that of 90 controls revealed that
unaffected fathers had an increased frequency of arches as the ridge configuration compared with the
control group, which was found to be significant (p = .009). In addition, the same trend toward increased
arches and decreased whorls was seen in unaffected mothers (Table 5).
View larger version
(6K)
Table 5
Number and Percentage of Dermatoglyphic Patterns in Unaffected
Parent and Control Groups
Discussion
While the etiology of cleft lip and palate is still poorly understood, many researchers believe that this
anomaly is a consequence of genetic and environmental factors that affect facial development
(Blomberg, 1980; Millicovsky and Jhonston, 1981; Peterka et al., 1994; Munger et al., 1996; Hiranuma
et al., 2000; Hozyasz et al., 2004; Carinci et al., 2007).
During early embryonic development, pathological genetic factors, which disrupt the development of
craniofacial structures, could also influence the early formation of dermatoglyphics in cleft lip and palate
patients.
The epidermal ridges of the fingers and palms as well as facial structures such as lips, alveolus, and
palate form from the same embryonic tissues (ectoderm) during the same embryonic period; thus, these
features may serve as proxy markers altering early development in cleft lip and palate (Mathew et al.,
2005). Despite the intense interest in cleft lip and palate research, a paucity of attention has been given
to the role of dermatoglyphic traits of parents (especially in sporadic cases) as a risk marker.
In some studies, it was found that unaffected relatives of cleft lip and palate patients show the same
degree of asymmetry as controls (Woolf and Gianas, 1976; Kobliansky et al., 1999; Neiswanger et al.,
2002); these results are in contrast to the results of the present study.
According to our study, there was not a significant difference between the TRC means of unaffected
parent and control groups, except for the right digit V of women. In addition, the present study showed
no statistically significant differences between TRC asymmetry of five fingers in unaffected parent and
control groups except for the digit I of women.
Although it is difficult to speculate on the meaning of these isolated functions, we speculate that these
digits may be more likely to differentiate groups with low versus high developmental instability. However,
it is better to be cautious in interpreting this finding in light of many comparisons undertaken in this
study.
Although the atd angles in both groups were in their normal ranges, the asymmetry of the atd angle was
found to be higher in unaffected parents than the controls, which may be due to different t positions in
both groups.
Adams and Niswander (1967) also found enhancement in the fluctuation of the atd angle in parents of
cleft patients who showed a familial history of this defect. In addition, Woolf and Gianas (1977) showed
that close relatives of the familial, not sporadic, cases had increased fluctuating dermatoglyphic
asymmetry.
Furthermore, the present study showed that female controls differed significantly from mothers of
affected patients in pattern asymmetry; whereas, male controls did not. In addition, we observed that the
men with affected children had an increased frequency of arches in relation to male controls.
In this regard, Scott et al. (2005b) showed that although the affected female subjects had significantly
more ulnar loops and arches and fewer whorls than the unaffected female subjects, there were no
significant differences between affected and unaffected male subjects. Dissimilarity scores were
significantly different between male and female subjects and between subjects with CL/P and unaffected
relatives.
In our study, we found that female controls differed significantly from mothers of affected subjects in
pattern asymmetry; whereas, male controls did not. However, in contrast to the study by Scott et al.
(2005b), in the present study the arches were significantly more common in male subjects.
Mathew et al. (2005) found an increase in the ulnar loop pattern on the distal phalanges of the 10 fingers
and an increase in the fluctuating asymmetry of the atd angle in oral cleft children. Similarly, we found
that atd asymmetry was significantly different between unaffected parents and controls.
Neiswanger et al. (2002) showed that probands' asymmetry scores for the TRC and atd angle did not
differ significantly from the scores of either unaffected relatives or controls. However, probands with a
positive family history of clefting showed significantly more asymmetry in their pattern types than
probands without a family history, unaffected relatives, or controls.
In CL groups, Kobliansky et al. (1999) showed an increase in fluctuating asymmetry indices values and
a decreased sexual dimorphism in dermatoglyphic traits of the CL and parental groups as compared
with controls.
In contrast to our study, Balgir (1993) showed a greater frequency of ulnar and radial loops than arches
and whorls in cleft lip and palate patients compared with controls. Similar to our study, Balgir (1993)
reported a wider atd angle and more dermatoglyphic asymmetry in the patient group.
Woolf and Gianas (1977) showed that propositi without a family history and their normal siblings and
parents were similar to the controls concerning pattern types. In addition, ab ridge count for familial
cases of CL(P) and their normal siblings and parents were all highly significant, but in the sporadic
cases, their normal siblings and parents were not significant. The dissimilarity pattern score was
increased significantly in familial cases and their normal parents and siblings but not in the sporadic
cases and their normal parents and siblings. In addition, Woolf and Gianas (1976) showed that in
contrast to the proposity with a family history of CL/P, the atd angle of propositi without a family history
and the normal parents and siblings of both types of propositi were similar to the controls. According to
the results of our study, it seems that dermatoglyphic traits of unaffected parents of sporadic cases are
similar to the familial cases.
We suspect that unaffected parents of sporadically cleft lip and palate patients may be different from the
general population in their dermatoglyphics, but further studies have to be done in different populations
to evaluate the significance of these variations of dermatoglyphic features in the oral cleft patients'
relatives. Our further assumption is that analysis of parents at the gene level and the investigation of the
presence or absence of risk factors would contribute to increased accuracy in predicting the chances of
bearing cleft babies.
Conclusion
Dermatoglyphic asymmetry of atd angles in unaffected parents and asymmetry of patterns in unaffected
mothers were significantly greater in comparison with the controls. Furthermore, unaffected fathers had
significantly more arches than the controls, but there were no significant differences in dermatoglyphic
patterns of unaffected mothers and the controls, as well as TRC asymmetry of five fingers between
unaffected parent and control groups except for the digits I of the women.
These results support the hypothesis that a genetic mechanism in the parents of affected children may
account for this congenital disorder and concomitantly increased asymmetry.
Acknowledgments
We wish to gratefully acknowledge Dr. Nima Mokhber and Dr. Hamidreza Kianifar for their valuable
comments as well as Dr. Habibollah Esmaili for his assistance in the statistical analysis. This study was
supported by the Vice Chancellor of Research of Mashhad University of Medical Sciences and Mashhad
Dental Research Center. This research was supported financially by vice chancellor for research of
Mashhad University of Medical Sciences (grant 86070).
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