|Year : 2017 | Volume
| Issue : 3 | Page : 38-42
Lip prints as a genetic marker in inheritance of cleft lip and palate: A case–control study
Abhilasha Yadav1, Rahul Gaikwad2, Anuj Jain3, Suhas Jajoo4
1 Department of Maxillofacial Surgery, Sharad Pawar Dental College, Wardha, Maharashtra, India
2 Department of Community Dentistry, Sharad Pawar Dental College, Wardha, Maharashtra, India
3 Department of Trauma and Emergency Medicine, All India Institute of Medical Sciences, Bhopal, Madhya Pradesh, India
4 Department of General Surgery, Jawaharlal Nehru Medical College, Wardha, Maharashtra, India
|Date of Web Publication||21-Nov-2017|
New State Bank Colony, Nagpur Road, Nalwadi, Wardha - 442 001, Maharashtra
Source of Support: None, Conflict of Interest: None
Aim: The aim of the study was to study the various pattern types of lip prints in parents of cleft lip and palate (CLP) siblings to detect if any specific pattern can be considered as a genetic marker. Patients and Methods: The study included 100 participants (study group parents with children having CLP, fifty fathers and fifty mothers) and fifty participants (control group parents having children without CLP, 25 fathers and 25 mothers. The lip prints of the participants were obtained using the cellophane method and analyzed using Suzuki and Tsuchihashi classification of lip prints. The data were subjected to Chi-square test. Results: On the basis of the logistic regression, prediction of 27% of abnormal pattern in more than one-quadrant of lip can be considered as genetic marker for cleft lip (palate) deformity. Discussion: In our study, abnormal pattern Type V had been found which was considered as genetic marker for transmission of cleft lip (palate) deformity and a predominant pattern of Type II was found which was same in lines of An Egyptian study. Conclusion: A highly significant correlation was observed in lip patterns in parents with cleft anomalies.
Keywords: Cleft lip and palate, genetic marker, lip prints, whorl pattern
|How to cite this article:|
Yadav A, Gaikwad R, Jain A, Jajoo S. Lip prints as a genetic marker in inheritance of cleft lip and palate: A case–control study. J Cleft Lip Palate Craniofac Anomal 2017;4, Suppl S1:38-42
|How to cite this URL:|
Yadav A, Gaikwad R, Jain A, Jajoo S. Lip prints as a genetic marker in inheritance of cleft lip and palate: A case–control study. J Cleft Lip Palate Craniofac Anomal [serial online] 2017 [cited 2022 Jan 27];4, Suppl S1:38-42. Available from: https://www.jclpca.org/text.asp?2017/4/3/38/218898
| Introduction|| |
Cleft lip and palate (CLP) is a common developmental disorder with a prevalence ranging from 1:500 to 1:2000 worldwide. This disorder requires a multidisciplinary approach for management. Hence, prevention of this developmental disorder and lowering its incidence needs to be addressed more than its surgical repair. For this purpose, identification of prone candidates must be done, which can be achieved with the help of identifying a genetic marker in inheritance of CLP. Lips have been treated in historic and anthropologic sources as well as other cultural documents as a subject both decorative and symbolic. Personality traits or certain characteristics are often attributed to a person based on the shape and use of the lips. Lips are proved to have something that characterizes the human being the same as fingerprints, which is the lip prints.
In 1950, Le Moyne Synder first described lip prints stating that wrinkles and cracks on the lips might identify persons. Lip prints are normal wrinkles and cracks present in the zone of transition of human lip, between the inner labial mucosa and outer skin. These prints are unique for individuals, as fingerprints and they do not change during the life of a person. There are various patterns of lip prints which can be identified by cheiloscopy. This lip print pattern is the anatomical character of the human lips, which becomes useful in identification and diagnosis of congenital diseases and anomalies.
Accurate phenotyping is crucial to understanding both the epidemiology and etiology of any congenital malformation, because the power to detect effects is weakened when heterogeneous groups are treated as a single entity. Although clefts of the lip and palate show a range of phenotypic expression, they are generally defined as qualitative traits (i.e., affected or unaffected). Furthermore, numerous lines of evidence now suggest the spectrum is more complex and should include a variety of subclinical phenotypic features observed in either an individual with CLP and/or their “unaffected” relatives.
Sub-clinical phenotypes can include minor structural variants including lip pits/prints, dental anomalies, defects of the orbicularis oris muscle, three-dimensional facial image measurement, brain variants as assessed by MRI or by surrogate measures, and speech or cognitive differences such as velopharyngeal insufficiency, reading disability, and IQ.
Hence, we have designed this observational study with the objective: (1) to study various pattern types of lip prints in parents of CLP siblings and to identify if any specific pattern can be considered as a genetic marker in the transmission of CLP deformity and (2) to compare these patterns with that of parents of unaffected children. It is also a trial to find out if certain pattern of lip prints in parents can be used for the expectance of this type of congenital anomaly.
| Patients and Methods|| |
The study was conducted in the Department of Oral and Maxillofacial Surgery from January 2014 to June 2014. The participants examined in this study included two groups - Group A and Group B. Group A included 100 participants (Study group: parents with children having CLP, fifty fathers and fifty mothers) and Group B included fifty participants (Control group: parents having children without CLP, 25 fathers and 25 mothers).
Parents who had atleast one child affected by nonsyndromic cleft lip alone, cleft palate, or CLP without any other systemic manifestations were included and parents of syndromic children, participants with lip lesions, participants allergic to lipsticks, participants with history of previous lip surgery or injury resulting in loss/change of lip print pattern, and participants who refused to take part in the study were excluded from the study.
Method of recording lip pattern
The participants were positioned with lips relaxed without any strain and the lip prints of the participants were obtained using the cellophane method [Figure 1]. Some studies have used digital photographs for recording lip prints. In the present study, a dark-colored lipstick was applied with a single motion, evenly on the lips with the help of disposable cotton buds. A folded piece of white bond paper was placed between the lips, and the person was asked to press the lips gently against the paper. Lip prints were visualized with the help of a magnifying lens and analyzed [Figure 2] and classified according to the widely used classification proposed by Suzuki et al. (1968) [Figure 3].
The data obtained were analyzed using Statistical Package for the Social Sciences version 11.5 (SPSS, IBM). The Chi-square and logistic regression analysis were done. The P value was taken as significant when <0.05 (confidence interval of 95% was taken).
| Results|| |
[Figure 4] exhibits the age-wise distribution of the study participants. All these participants (fifty males and fifty females) were subjected to cheiloscopy and the results are shown in [Figure 5]a-d. Fifty individuals in control group had also undergone cheiloscopy which revealed that their lip print patterns belonged to Type I to Type V. The percentage differences of lip print patterns from Type I to Type V in both the groups were statistically not significant (P > 0.05).
|Figure 5: Distribution of types of lip print pattern in study participants. ( a) First quadrant. (b) Second quadrant. (c) Third quadrant. (d) Fourth quadrant|
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None of the control group participant showed the presence of whorls in lip print pattern which was evident in study participants [Figure 6]. This difference of presence of whorls in lip print pattern between the two groups was statistically significant (P < 0.05). However, the presence of whorl pattern in both the genders of the study group was statistically not significant (P > 0.05) [Figure 7].
|Figure 7: Gender-wise distribution of study participants with the presence of whorl pattern|
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On the basis of the logistic regression, presence of 27% of abnormal pattern in more than one-quadrant of lip can be considered as a genetic marker for cleft deformity, which was evident in the present study.
| Discussion|| |
The predilection of CLP as one of the congenital disorders is considered a major advance in the prevention of its occurrence or lowering its incidence than surgical repair. 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.
The role of lip prints and dermatoglyphics as a genetic marker in inheritance of various congenital anomalies has been discussed by various researchers in the past. Dermatoglyphics has been associated with cleft lip, Down's syndrome, schizophrenia, Apert syndrome, and diabetes, whereas lip prints have been correlated with localized juvenile periodontitis. However, lip prints as a genetic marker in inheritance of CLP have been sparsely studied. Previous studies positively revealed the role of lip prints as a genetic marker for cleft anomalies as our study.
In the present study, a new pattern of lip prints called the “whorl” or “O” pattern was noted in the study group. These whorl pattern was absent in the individuals belonging to control group which suggests their presence as a marker for genetic inheritance of cleft anomalies. In our study, the presence of whorl pattern in fathers and mothers was almost equal. However, in the study conducted by Ravath et al. had the presence of whorl pattern more in fathers. Another study conducted by Saad et al. found more whorl pattern in mothers as compared to fathers. This might be due to the inequality of the samples in their study, i.e., 30 fathers and 32 mothers were included whereas 50 fathers and 50 mothers were included in the present study. Furthermore, the population studied was Egyptian whereas the population used in the present study is Indian. In a study conducted by Saujanya et al. in 2016 conducted among South Indian population had same sample size as the present study with almost similar results, wherein Type IIa followed by Type O were significantly higher in both mothers and fathers of children with CLP. Another factor which might explain the difference in the results with the previous studies is that direct digital photography of the participants' lips was used to obtain the lip prints in the study by Saad et al., whereas the cellophane method was followed in the present study as used by Saujanya et al.
Whorls were first observed by Hirth et al. Whorl pattern can be seen on both the lips. On upper lip, it presents as a single circular pattern of grooves in the midline. However, in lower lip, these whorls present as circular patterns on either or both sides of midline. Hirth et al., observed in their study, conducted three decades ago that the frequency of whorls over lower lip increases in patients with cleft anomalies and their family members. They also postulated that these whorls might represent a mild form lower lip or stulae., If the presence of this whorl pattern is more frequent in parents of cleft children, they can be a part of an extended spectrum of nonsyndromic CLP., Hence, further detailed studies on lip prints and their role as a genetic marker must be carried out.
| Conclusion|| |
The presence of whorl pattern in the study participants and its total absence in the control group clearly suggests its importance as a genetic marker for inheritance of CLP in the immediate generation. Further studies with a greater sample and detailed analysis including grooves count are needed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]