Dermatoglyphics and Cheiloscopy in the Inheritance of Cleft Lip and Palate: Unraveling the Mystery

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1 Original article Dermatoglyphics and Cheiloscopy in the Inheritance of Cleft Lip /jp-journals and Palate: Unraveling the Mystery Dermatoglyphics and Cheiloscopy in the Inheritance of Cleft Lip and Palate: Unraveling the Mystery 1 Naveen Reddy Admala, 2 Sharmila Arjunan, 3 Gopinath Adusumilli, 4 Jayaprakash Reddy Thirumala 5 Raghu Devanna, 6 Saravanan Pichai ABSTRACT Introduction: Dermatoglyphic and cheiloscopic analysis have been useful in understanding basic questions in biology, medicine, genetics, evolution and forensics. They are now begin ning to prove themselves as an extremely useful tool for preliminary investigations into conditions with a suspected genetic basis. Materials and methods: Case-control type of study consisting of two groups of thirty parents each of cleft lip with/without palate, CL(P) affected children (Group A) and normal children (Group B). Study aims to determine the presence of any dermatoglyphic asymmetry and correlation between finger prints and lip pattern, among the two groups. Prints of all ten fingers were taken by Ink method and recor ded on white paper. Lip patterns were obtained by direct photo graphy of the subjects in natural head position. Results: Chi-square test was done to determine the significance of occurrence of different patterns among the two study groups. Increased dermatoglyphic asymmetry with higher ulnar loop patterns was seen in Group A. Whorl patterns were increased in Group B. An increase in type I (straight grooves) and II (branches) in Group A and type III (intersected lines) in Group B was seen in lip patterns. Conclusion: A highly significant correlation was observed in finger prints and lip patterns in parents with CL(P) affected children and hence can prove to be an extremely useful screening tool for CL(P) and other associated genetic anomalies. Keywords: CL (P), Finger prints, Lip patterns, Dermatoglyphics, Cheiloscopy. How to cite this article: Admala NR, Arjunan S Adusumilli G, Thirumala JR, Devanna R, Pichai S. Dermatoglyphics and Cheiloscopy in the Inheritance of Cleft Lip and Palate: Unraveling the Mystery. J Ind Orthod Soc 2014;48(3): Source of support: Nil Conflict of interest: None Received on: 25/12/12 Accepted after Revision: 31/3/13 1 Professor and Head, 2 Former Postgraduate Student 3 Professor, 4,5 Reader, 6 Senior Lecturer 1-6 Department of Orthodontics, AME s Dental College and Hospital, Raichur, Karnataka, India Corresponding Author: Naveen Reddy Admala, Professor and Head, Department of Orthodontics, AME s Dental College and Hospital, Raichur, Karnataka, India, drnaveenadmala@ gmail.com INTRODUCTION Over the past 150 years, dermatoglyphics has been a useful tool in understanding basic questions in biology, medicine, genetics and evolution, in addition to being the best and most widely used method for personal identification. 1 The last few decades have seen the development of the importance of lip prints as another skin impression, which may be useful in identification and diagnosis of congenital diseases and anomalies. 2 Cummins and Midlo (1926) were the first to coin the term Dermatoglyphics. It is the science and art of the study of surface markings/patterns of ridges on the skin of the fingers, palm, toes and soles. The main thrust of their research was on Down s syndrome and the characteristic hand pattern formations. 3,4 External surface of the lip has many elevations and depressions forming a characteristic pattern called lip prints, examination of which is referred to as cheiloscopy. This is unique for individuals like the finger prints. In humans, the development of the primary palate and the lip is completed by the seventh week of intrauterine life and that of 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 twelth and thirteenth weeks. This means that the genetic message contained in the genome normal or abnormal is deciphered during this period and is also reflected by dermatoglyphics. 5,6 The current state of medical dermatoglyphics is such, that the diagnosis of some illnesses can now be done on the basis of dermatoglyphic analysis alone and currently, several dermatoglyphic researches claim a very high degree of accuracy in their prognostic ability from the hand features. 1 The aim of our study: 1. To determine if parents of nonsyndromic cleft lip with or without cleft palate CL(P) children display more dermatoglyphic asymmetry than parents of normal unaffected children. 2. To study the various pattern types of lip prints in parents of CL(P) children to detect if any specific pattern can be considered as a genetic marker in the transmission of CL(P) deformity. Materials and methods The subjects examined in this study were divided into two groups Group A and B. The Journal of Indian Orthodontic Society, July-September 2014;48(3):

Were normal healthy individuals not affected themselves by CL(P). The age range of mothers in Group A was between 17 and 29 years (mean age of 23.4 years).

2 Naveen Reddy Admala et al Group A comprised of 30 parents (mother and father) who: 1. Had atleast one child affected by nonsyndromic cleft lip alone, cleft palate or cleft lip and palate without any other systemic manifestations. 2. Were normal healthy individuals not affected themselves by CL(P). The age range of mothers in Group A was between 17 and 29 years (mean age of 23.4 years). The age range of fathers in Group A was between 24 and 35 years (mean age of 30.0 years). The distribution of children affected in Group A is given in Table 1. Group B consisted of 30 parents (mother and father) who: 1. Had normal, healthy children without any medical or congenital anomalies. 2. Provided no history of relatives affected by CL(P). The age range of mothers in Group B was between 18 and 30 years (mean age of 24.5 years). The age range of fathers in Group B was between 28 and 35 years (mean age of 31.1 years). Method of Obtaining Finger Prints 1. The subjects were asked to wash their hands with detergent and after thorough drying, their finger prints were recorded. 2. The finger prints were collected using standard ink method. 3. Blue duplicating ink was evenly spread over a clean glass slab using a brush. 4. The subjects distal phalanx of each finger was rolled gently from left to right on the glass slab and the procedure was repeated on a plain white paper to record the finger print (Fig. 1). 5. Similarly, the distal phalanx of all ten digits were recorded to analyse the symmetry in pattern between corres ponding fingers on the right and left hand. Method of Recording Lip Pattern 1. The subjects were made to stand upright in natural head position with lips relaxed without any strain. 2. Lip prints were recorded by direct photography under natural lighting using a D-SLR camera. 2 The photographs included only the lower third of the face focussing on the upper and lower lips to conceal the identity of the subjects (Fig. 2). Ethical clearance was obtained from the institutional review board for the conduction of this study and the subjects were duly informed about the purpose of the investigations made and consent was taken for the same. Analysis of Finger Prints 1. The finger prints of all the ten digits of the samples (30 parents each of CL(P) patients and normal, healthy children) were collected using the method mentioned above. 2. Galton (1892) divided the ridge patterns on the distal phalanges of the fingertips into three groups namely Arches, Loops and Whorls (Fig. 3). Although numerous subclassifications have been subsequently offered, this simple classification is still recognized and used by majority of investigators today. Fig. 1: Method of recording finger prints Fig. 2: Method of recording lip patterns by photography Table 1: The distribution of children affected by CL(P) whose parents were sampled in Group A to study dermatoglyphic and cheiloscopic peculiarities Cleft lip Cleft palate Cleft lip and palate Left Right Left Right Left Right Bilateral Total

Dermatoglyphics and Cheiloscopy in the Inheritance of Cleft Lip and Palate: Unraveling the Mystery a. Arches: It is the simplest pattern found on fingertips.

A series of ridges enter the pattern on one side of the digit, recurve abruptly, and leave the pattern area on the same side.

3 Dermatoglyphics and Cheiloscopy in the Inheritance of Cleft Lip and Palate: Unraveling the Mystery a. Arches: It is the simplest pattern found on fingertips. It is formed by succession of more or less parallel ridges, which traverse the pattern area and form a curve that is concave proximally. b. Loops: It is the most common pattern on the fingertip. A series of ridges enter the pattern on one side of the digit, recurve abruptly, and leave the pattern area on the same side. If the ridge opens on the ulnar side, resul ting loop is termed as ulnar loop (UL). If the ridge opens toward the radial margin, it is called a radial loop (RL). c. Whorls: It is any ridge configuration with two or more triradii. One triradius is on radial and the other on the ulnar side of the pattern. Henry (1937) limited the designation of the term Whorl to those configurations having ridges that actually encircle a core. 3. Asymmetry score was calculated between corresponding fingers of right and left hands. A score of 0 was assigned if the patterns matched between the fingers and a score of 1 was given if the patterns were not similar Following the study of Woolf and Gianas, the radial and ulnar loops were scored as identical patterns Thus, 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). Analysis of Lip Patterns Fig. 3: Analysis of finger prints 1. The lips are divided into 6 topographical areas 9 as shown in (Fig. 4). 2. The pattern of lip prints given by Suzuki and Tsuchihashi in were used (Fig. 5). 3. The frequency of each type of lip print patterns in the 6 topographical areas was statistically correlated and its percentage was estimated p-value was calculated for each one in comparison to control. Three investigators who were blind to the subjects group, independently categorized the finger print and lip patterns into the corresponding classifications mentioned. Any dispute which arose among the three was decided based on consensus. Results Data entry and analysis was performed using SPSS statistical software. The significance values were calculated using chisquare test. Our study indicated that subjects of Group A had more dermatoglyphic asymmetry than subjects of Group B with the values being highly statistically significant (Table 2). There was more inter digital asymmetry (with an increased score) seen in mothers and fathers of Group A, i.e. parents with children affected with CL(P) as compared to parents of Group B who had a lesser asymmetry score. The individual comparison of ridge patterns of mothers and fathers of Groups A and B are as depicted in Graphs 1 and 2. In the study of lip patterns, the lips which were divided into 6 topographical area were assigned pattern types I, II, III, IV or V based on nearest resemblance to the classified patterns by Suzuki and Tsuchihashi (1970). It was observed that there was an increase in pattern types I and II in parents of CL(P) affected children (Group A) and a increased frequency of pattern type III in parents of normal children (Group B). Fig. 4: Lip divided into 6 topographical areas Fig. 5: Analysis of lip patterns The Journal of Indian Orthodontic Society, July-September 2014;48(3):

Naveen Reddy Admala et al Table 2: The asymmetry scores of subjects of Groups A and B Total scores Mothers Fathers A comparison between the frequency of occurrence of different lip patterns among

001 (HS) p < 0.001 (HS) Our study concluded that there was a statistically significant correlation between increased dermatoglyphic asymmetry of ridges in parents of CL(P) children.

Similarly among the lip patterns, an increase in pattern I (straight grooves) and II (branched) were observed in genetically susceptible parents as opposed to increased pattern III (intersected) in

4 Naveen Reddy Admala et al Table 2: The asymmetry scores of subjects of Groups A and B Total scores Mothers Fathers A comparison between the frequency of occurrence of different lip patterns among mothers and fathers of cases and controls are depicted in Graphs 3 and 4. Discussion Group A Group B Group A Group B p* value, significant p < (HS) p < (HS) Our study concluded that there was a statistically significant correlation between increased dermatoglyphic asymmetry of ridges in parents of CL(P) children. An increased loop pattern in genetically susceptible individuals were observed whereas in parents of normal, healthy children, an increase in whorl count was recorded. Similarly among the lip patterns, an increase in pattern I (straight grooves) and II (branched) were observed in genetically susceptible parents as opposed to increased pattern III (intersected) in parents of normal children. Genes in their optimal state are nearly symmetrical. Asymmetry will be illustrated in various human bilateral struc tures like eyes, teeth, hands, etc. where genes have been damaged. Thus, dermatoglyphic analysis can be an extremely use ful diagnostic tool for the preliminary investi gation into conditions with suspected genetic base. Dermal ridge differentiation takes place early in fetal develop ment. The resulting ridge configurations are geneti - cally determined and are influenced and modified by environmental factors. 4 It is known that finger and palm prints are formed during the first 6 to 7 weeks of the embryonic period and are completed after 10 to 20 weeks of gestation. Abnormalities in these areas are influenced by a combination of hereditary and environmental forces, but only when the combined fac tors exceed a certain level, can these abnormalities be expected to appear. Graph 1: Comparison of finger print patterns between fathers of Groups A and B Graph 2: Comparison of finger print patterns between mothers of Groups A and B Graph 3: Comparison of lip prints of fathers of Groups A and B Graph 4: Comparison of lip prints of mothers of Groups A and B 178

5 Dermatoglyphics and Cheiloscopy in the Inheritance of Cleft Lip and Palate: Unraveling the Mystery The epidermal ridges of the fingers and palms as well as the facial structures like the lip, alveolus and palate are formed from the same embryonic tissues (ectoderm) during the same embryonic period (6-9 weeks). Thus Nobaru et al (1986) 11 stated that the genetic and environmental factors which are responsible for causing CLP may cause peculiarities in dermatoglyphic patterns. According to Charles Woolf et al (1977) 8 the asymmetry analysis found that probands in families with a positive family history of clefting had significantly more asymmetry in their pattern types than all other groups. They also saw an increase in mean dissimilarity scores among probands with a positive family history, compared either with probands without a family history or with controls. Thus, in families with multiple occurrences of clefting, unaffected relatives show the same degree of pattern asymmetry as controls, while affected probands show a higher degree of pattern asymmetry. The results were similar to our study were in increased asymmetry between dermal patterns were seen among the parents of affected children as compared to normal children. The wrinkles and grooves on labial mucosa called as sulci labiorum form a characteristic pattern called lip prints and the study of which is referred to as chieloscopy. Lip prints develop in the same first few weeks of embryological life as the lips. Lip prints, as one of the dermatoglyphics, have been used as genetic markers in many congenital and clinical diseases. 13 In our present study, there are important statistically significant differences between the studied lip prints and the control ones. Predilection of CL (P) as one of the congenital disorders is considered a major advance in prevention of its occurrence or lowering its incidence than surgical repair. This primary prevention may be aided by finding something in parents lips directly related embryologically, anatomically and/or genetically to the inheritance of the clefted lips of children, that is the lip prints. 9,12 Lip prints develop in the same first few weeks of embryological life as the lips. 12 Wael M Saad et al (2005) 2 concluded that there was an increased frequency of patterns I (straight lines) and II (branched grooves) in parents of CLP subjects with an increase in pattern III (intersected lines) in normal children s parents which were similar to the results of our present study. They also came across a new pattern O in the centre of the upper lip, which was never documented previously, among parents of case group. Dermatoglyphic and cheiloscopic analysis is now beginning to prove itself as an extremely useful tool for preli minary investigations into conditions with a suspected genetic basis. In many respects, it has been used as an adjunct to other disciplines, serving as a vehicle to resolve broader biomedical problems. Thus in biology, anthropology, genetics and medicine, dermatoglyphics serves as a tool to describe, compare and contrast, and at times predict occurrences and risks for biomedical events studied by these major disciplinary areas. Acknowledgment Our sincere thanks to Dr Dinesh Singh Chauhan, MDS, Depart ment of Oral and Maxillofacial surgery, AME s Dental College and Hospital, Raichur and Mr Husenappa for their kind collaboration in sample selection for this study. References 1. Ramani P, Abhilash PR, Sherlin HJ, Anuja N, Premkumar P, Chandrasekar T, et al. Conventional dermatoglyphics revised concept: a review. Int J Pharma and Bio Sci 2011;2(3): Saad WM, Kamel AH, Hassan FZ, El-Otiefy. Genetic Studies on the Inheritance of Lip Prints in Cleft Lip and Palate. Egypt. J Plast Reconstr Surg 2005;29(1): History of dermatoglyphics. Available at: 4. Schaumann B, Alter M. Dermatoglyphics in medical disorders. 1st ed., Berlin: New York Springer Verlag; Balgir RS. Congenital oral clefts and dermatoglyphics. Isr J Med Sci 1984;20(7): Mathew L, Hegde AM, Rai K. Dermatoglyphic peculiarities in children with oral clefts. J Indian Soc Pedod Prev Dent 2005 Dec;23(4): Neiswanger K, Cooper ME, Weinberg SM, Flodman P, Keglovits AB, Liu Y, et al. Cleft lip with or without cleft palate and dermatoglyphic asymmetry: evaluation of a Chinese population. Orthod Craniofac Res 2002;5(3): Woolf CM, Gianas AD. A study of fluctuating dermatoglyphic asymmetry in the sibs and parents of cleft lip propositi. Am J Hum Genet 1977;29(5): Hassan FZ, Fahmy SM. The pattern of lip prints in upper Egyptians. Assiut Medical J 1977;1(4): Suzuki K, Tsuchihashi Y. A trial of personal identification by means of lip prints. Jap J Leg Med 1969;23(1): Kanematsu N, Yoshida Y, Kishi N, Kawata K, Kaku M, Maeda K, et al. Study on abnor ma lities in the appearance of finger and palm prints in children with cleft lip, alveolus, and palate. J Maxillofac Surg 1986;14(2): Tsuchihashi Y. Studies on personal identification by means of lip prints. Forensic Sci 1974;3(3): Afaf TY, Abd Elwanees S, El-Awdan A. The inheritance of lip print patterns. Tanta Medical J 1987;1(1):26. The Journal of Indian Orthodontic Society, July-September 2014;48(3):

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