Dermatoglyphic Pattern Types in Subjects with Nonsyndromic Cleft Lip with or without Cleft Palate (CL/P) and Their Unaffected Relatives in the Philippines

2005 ◽  
Vol 42 (4) ◽  
pp. 362-366 ◽  
Author(s):  
Nicole M. Scott ◽  
Seth M. Weinberg ◽  
Katherine Neiswanger ◽  
Sandra Daack-Hirsch ◽  
Sarah O'Brien ◽  
...  

Objective To investigate dermatoglyphic patterns in 95 nonsyndromic Filipino subjects with nonsyndromic cleft lip with or without cleft palate (CL/P) and 90 of their unaffected relatives. Design Retrospective study of dermatoglyphic pattern types. Setting Negros Occidental and Cavite in the Philippines. Participants Nonsyndromic subjects with CL/P and their unaffected relatives. Methods Dermatoglyphic patterns were categorized as arch, ulnar loop, radial loop, whorl, or other by three independent raters. Pattern data from the subjects, the unaffected relatives, and an unaffected control population (from the literature) were compared using chi-square tests. As a measure of asymmetry, dissimilarity between pattern types on homologous fingers was quantified and compared using Student's t tests. Results The frequency of arches (p = .016) and ulnar loops (p = .04) were significantly increased, and whorls decreased in the affected group (p = .0015), compared with the unaffected group. Affected female subjects had significantly more ulnar loops and arches (p = .009 and p = .023, respectively) and fewer whorls (p < .0001) 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. Additionally, pattern type frequencies for the relatives fell in between the frequencies for the CL/P group and the controls. Conclusions In this Filipino population, differences in frequency of dermatoglyphic pattern types and pattern dissimilarity exist between individuals with orofacial clefts and their unaffected relatives and between both groups and controls, with the major effect seen in female subjects.

2021 ◽  
pp. 105566562110577
Author(s):  
Jaideep Singh Chauhan ◽  
Sarwpriya Sharma

Objective: To analyse the morphological presentation of orofacial clefts, gender, syndromes and systemic anomalies associated with them. Design: This was an epidemiological study performed in the patients who were registered for cleft lip and palate surgeries in our centre. The data was evaluated both retrospectively as well as prospectively. Patients/ Participants: The patients registered from November 2006 to April 2021 were studied. Out of 5276 patients, data of 5004 cases were analysed, rest 272 patients were excluded due to lack of information. Statistical analysis and Chi square test were applied. Results: Cleft deformities were more common in males than females. Cleft lip with palate was the commonest phenotype (52.2%). It was followed by isolated cleft lip (22.9%), isolated cleft palate (22.1%), rare clefts (1.62%) and syndromic clefts (1.18%). Unilateral variants were more frequent than bilateral. In unilateral, left side was more common than the right side. Among bilateral, most of the cases had premaxillary protrusion. In the present study, 3.46% of all the patients had associated anomalies affecting their other organs. Less common cleft phenotypes like microform cleft lip and submucous cleft palate ± bifid uvula showed frequency of 0.62% and 0.64% respectively. Conclusion: Thorough examination of cleft deformity should be done as it may appear as an isolated deformity or part of a syndrome and have associated systemic anomalies. This may help us to deliver comprehensive care to the patients and can prevent potential operative complications.


2021 ◽  
pp. 105566562110698
Author(s):  
Joshua P Weissman ◽  
Narainsai K Reddy ◽  
Nikhil D Shah ◽  
Arun K Gosain

Understanding patient awareness of cleft lip and/or palate (CL/P) and evaluating demand for necessary procedures may serve to better target future efforts in global outreach. We utilized internet search query data from Google Trends for the terms: “cleft lip,” “cleft palate,” “cleft lip and palate,” “cleft surgery,” and “cleft repair” from January 2004 to January 2021. Relative search volumes (RSV) recorded for the top 5 highest displaying countries and top 3 available regions within those countries were compared against global outreach by Operation Smile and Smile Train, as measured by the number of patients treated. World Health Organization (WHO) indicators were used to validate the RSV values for each country and better understand the current infrastructure and need for cleft care in those countries. Globally, there was an increase in RSV for the terms “cleft lip,” “cleft palate,” “cleft repair,” and “cleft surgery” between 2004 and 2021. For “cleft lip,” the countries with the highest displaying RSVs included: Ghana (100%), Zimbabwe (97%), Nepal (78%), the Philippines (64%), and Kenya (52%). Countries with high RSVs and moderate to high WHO indicators included Ghana, Kenya, India, Nigeria, and Zimbabwe. Countries with high RSVs and poor WHO indicators included Nepal and Pakistan. Some countries had specific regions with high search demand that are not currently targeted for global outreach. Using Google Trends’ data may help find more feasible locations and targeted care for efforts in global outreach with better patient awareness and turnout where demand for CL/P is increasing.


1992 ◽  
Vol 29 (3) ◽  
pp. 262-267 ◽  
Author(s):  
Hillary L. Broder ◽  
Fraser B. Smith ◽  
Ronald P. Strauss

This study examined ratings regarding satisfaction with facial appearance and speech performance from 495 parent-child pairs. Data were obtained from school-aged children (5–18 years old) and their parents using standardized independent interviews. Results revealed that 54 percent of the children with cleft lip (CL) or cleft lip and palate (CLP) were very pleased with their appearance, and 62 percent of the cleft palate or CLP subjects were very pleased with speech. Low, but statistically significant correlations exist between the female subjects and their parents in satisfaction with appearance. Although older cleft lip and/or palate patients reported increased satisfaction with speech, no age differences in patient satisfaction with appearance were observed in subjects with CL/CLP. Parents of females expressed more concern about their daughters' appearance than parents of males, while parents of males were more concerned about speech. Implications for craniofacial habilitation teams and research suggestions are discussed.


Human Biology ◽  
2005 ◽  
Vol 77 (2) ◽  
pp. 257-266 ◽  
Author(s):  
Nicole M. Scott ◽  
Seth M. Weinberg ◽  
Katherine Neiswanger ◽  
Carla A. Brandon ◽  
Sandra Daack-Hirsch ◽  
...  

2004 ◽  
Vol 41 (6) ◽  
pp. 613-621 ◽  
Author(s):  
Evangelia Chatzistavrou ◽  
R. Bruce Ross ◽  
Bryan D. Tompson ◽  
Malcom C. Johnston

Objective To identify inherited craniofacial morphologic features in individuals at high risk for cleft of the lip, cleft palate, or both. Subjects Twins without cleft from 33 pairs of monozygotic twins discordant for cleft lip, cleft palate, or both were studied. There were 17 males and 16 females of Caucasian origin, ranging from 3 to 18 years (15 with cleft lip and palate [CLP], 10 with cleft lip [CL], and 8 with cleft palate [CP]), collected from five craniofacial centers (United States and Canada). Design The twin without cleft (noncleft) from each set was compared with an age- and sex-matched control individual from the Burlington Growth Centre, Toronto, Ontario. Posteroanterior and lateral cephalograms were traced and digitized using a computer custom analysis. Descriptive statistics, Student's t tests, and analysis of variance were used to test 40 variables in a pilot study comparing the noncleft twin groups with the controls. Preliminary analysis permitted pooling of the CLP and CL groups (n = 25). To minimize false-positive significance, only 14 variables (from the maxillofacial area) were tested. Results Using the raw probabilities, eight variables showed significant differences between the pooled noncleft CLP and CL (CL[P]) twin group and the controls. However, when the level of significance was adjusted, only four (nasal width [p < .01], cranial base length [p < .05], cranial base width/length ratio [p < .001], and maxillary width/length ratio [p < .05]) were significantly different. No significant differences were confirmed between the noncleft CP twin group and the controls. Conclusions The noncleft member of a discordant monozygotic pair has a number of facial characteristics that differ from the general population. These may predispose to the formation of a cleft lip or palate and may result from a deficiency or distortion of the mesenchyme that forms the craniofacial structures.


Author(s):  
Jeffrey C. Murray ◽  
Sandra Daack-Hirsch ◽  
Kenneth H. Buetow ◽  
Ronald Munger ◽  
Lourdes Espina ◽  
...  

Clinical and epidemiologic studies of defined geographic populations can serve as a means of establishing data important for genetic counseling and as a first step in Identifying strategies best suited for Identification of causes. Under the sponsorship of Operation Smile International, clinical, genetic, and epidemiologic studies were carried out at six sites within the Philippines between 1989 and 1996. Patients who were being evaluated for surgical repair of craniofacial anomalies (primarily clefts of the lip and palate) were briefly examined for the presence of associated anomalies, and a family history was obtained to look for the frequency of cleft lip and palate in siblings. Birth records of 47,969 newborns born over an 8-year period at one hospital in Bacolod City in the province of Negros Occidental were reviewed. Medical records of infants born with clefts of the lip and/or palate and other major anomalies were reviewed and birth prevalence rates calculated. Findings include a birth prevalence of 1.94 per 1000 live births for cleft lip with/without palate in the Philippines. Recurrence rates in siblings for nonsyndromic clefts of the lip and palate were 23 per 1000 for cleft lip with or without cleft palate, and 14 per 1000 for cleft palate only. The percentage of clefts associated with multiple anomalies was 21% at birth and 6% for individuals examined during the screening process, providing evidence for a high postnatal death rate. These data provide groundwork for additional etiologic studies including segregation analysis and molecular genetic studies involving linkage or association, as well as for studies of environmental contributions to clefting such as vitamin deficiencies. Preliminary molecular analysis using an association approach is reported in a companion paper. The findings suggest a high incidence of cleft lip and palate in native-born Filipinos.


2021 ◽  
Vol 24 (4) ◽  
Author(s):  
Kelly Fernanda Molena ◽  
Vivian Patricia Saldias Vargas Winckler ◽  
Gisele da Silva Dalben

Objective: Congenital defects, including cleft lip and palate, increase the morbidity and mortality in the affected population. This study aimed to determine the prevalence of cleft lip and palate in the city of Bauru, Brazil, by evaluation of registry in the Brazilian Livebirth Certificate (DNV) and the Information System on Livebirths (SINASC), and analyzed the concordance of diagnosis compared with registries of the Hospital for Rehabilitation of Craniofacial Anomalies (HRAC/USP), located in the same city. Material and Methods: This retrospective observational study comprised analysis of all DNVs and identification of individuals with clefts born and living in Bauru, comparing with data from HRAC/USP. The prevalence was calculated by dividing the number of children born with clefts in the study period by the total number of livebirths registered. The reporting of different types of clefts was compared by the chi-square test. Results: Overall, 50,898 DNV were evaluated, among which there were 25 reported cases of cleft lip and/or palate. In the same period, HRAC/USP registered 77 cases born in Bauru, representing 67.5% of underreporting of the occurrence of clefts. Cleft palate was the most prevalent (34.9%), followed by cleft lip and palate (31.7%) and cleft lip (30.2%), mostly affecting males (58.5%). The reporting of cleft palate (16.12%) was lower compared to cleft lip (43.75%) and cleft lip and palate (54.54%). Conclusion: The study revealed predominance of cleft palate, with significant underreporting of clefts in the public health system, especially for cleft palate as compared to cleft lip and cleft lip and palate. Keywords Cleft lip; Cleft palate; Epidemiology; Prevalence; Reporting.


2020 ◽  
Vol 11 (SPL3) ◽  
pp. 1027-1031
Author(s):  
Joshini Shanmugam ◽  
Senthil Murugan P ◽  
Suresh V

Consanguinity is considered a significant factor in autosomal recessive diseases; it has also been associated with congenital anomalies such as hydrocephalus, polydactilia and Cleft Lip and Palate deformities. The risk of congenital conditions is higher in subjects born of first degree consanguineous parents compared with those of non-consanguineous marriages. The aim of this study is to evaluate the prevalence of consanguinity with formation of cleft lip/ cleft palate formation in Tamil, Telugu population. This is a retrospective study. The details of 86,000 patient records were reviewed and analysed, out of which 76 patients who had undergone surgical treatment for cleft lip and cleft palate deformities between June 2019 to march 2020 were included in this study. The details like age, gender, family history and cleft diagnosis were evaluated and entered in SPSS and analysed through a chi-square test. It was observed that 11% of patients reported with history of consanguineous marriages which was associated with formation of cleft lip/palate. Within the limits of the study, it was concluded that consanguinity had a significant role in formation of cleft lip/cleft palate.


2003 ◽  
Vol 40 (5) ◽  
pp. 453-459 ◽  
Author(s):  
Mary Hardin-Jones ◽  
Kathy L. Chapman ◽  
Julie Schulte

Objective The purpose of the present investigation was to examine the impact of cleft type on early sound development in children with cleft palate (with or without cleft lip). Participants The participants included 53 babies with unrepaired cleft palate aged 8 to 10 months. Thirty-five babies had cleft lip and palate (CLP) and 18 had cleft palate only (CPO). Main Outcome Measures Spontaneous vocalizations of the CLP and CPO groups were compared to determine whether differences were evident in canonical babbling, size of consonant inventory as well as place and manner of consonant production, and frequency of vocalization. Results Student's t tests revealed no significant differences between the groups in canonical babbling, size of consonant inventory, place and manner of consonant production, or frequency of vocalization. However, there was a trend for babies in the CPO group to produce fewer compensatory stop consonants and more anterior place features. In addition, a larger percentage of children in the CPO group had entered the canonical babbling stage at the time of this study. Conclusions In general, the findings of this study suggested that cleft type does not appear to play a significant role in early consonant development for babies with cleft palate. Additional study using a larger CPO group is recommended to further investigate the trend toward better performance noted in this group.


2012 ◽  
Vol 36 (3) ◽  
pp. 301-308 ◽  
Author(s):  
Hattab FN

Objective: To assess the prevalence of periodontal disease, orofacial changes and craniofacial abnormalities in patients with thalassemia major (TM). Dental management is discussed. Study design: The sample consisted of 54 patients with TM, 31 males and 23 females aged 5.5 to 18.3 years, with the mean age (± SD) of 11.6 ± 3.2 years. The sample was divided into two subgroups according to age. A similar number of unaffected control group matched by age and sex served as a control. Clinical and radiographic examinations were carried out to assess the prevalence of changes caused by this disorder. Student’s t-test was used to compare the means between thalassemic group and the control group. The Chi-square test was employed to determine statistical differences in frequencies between the two groups. Results: Poor oral hygiene and gingivitis were observed in 61.1% and 43.0% of the thalassemic patients, respectively. The overall mean plaque score was 1.66 ± 0.51 and gingival score 1.43 ± 0.59. In all tested periodontal parameters, a higher frequency and severity were noted in the thalassemic patients compared with controls. More than half of the patients exhibited frontal bossing, saddle nose and to less extent maxillary protrusion; giving in severe cases (16.7%) a “chipmunk” like appearance. Dental discoloration and pallor oral mucosa were noted in 44.4% and 38.9%, respectively. Dental / jaw pain was reported by 40.0% and headache by 29.6% of the patients. Increased overjet was evident in 25.9% of the patients. The majority of the patients had thickened frontal bone (66.7%), and thinned inferior border of the mandible (64.6%). Widened dipolic spaces and spiky roots and were observed in one-third of the patients. The ramus length and width in the patients were significantly smaller than in controls (P &gt; 0.001). Conclusion: TM may particularly diagnose through orofacial abnormalities. Dentists required understanding the complications and management of the disease.


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