Demographic and clinical profiles of familial cleft lip and palate: A comprehensive analysis from a high-volume cleft center in Telangana, India

Orofacial clefts: treatment based on a multidisciplinary approach

Objective : Many studies have demonstrated a high frequency of dental anomalies in patients with cleft lip and/or palate. Because dental anomalies may complicate dental treatment, we investigated the prevalence of dental anomalies in a group of Brazilian patients with nonsyndromic cleft lip and/or palate. Design, Participants, Setting : Retrospective analysis was performed using clinical records of 296 patients aged between 12 and 30years with repaired nonsyndromic cleft lip and/or palate without history of tooth extraction and orthodontic treatment. Associations between oral clefts and presence of dental anomalies outside the cleft area were investigated. Results : Dental anomalies were identified in 39.9% of the nonsyndromic cleft lip and/or palate patients, and tooth agenesis (47.5%), impacted tooth (13.1%), and microdontia (12.7%) were the most common anomalies. Cleft lip patients were less affected by dental anomalies compared with cleft palate or cleft lip and palate patients (p = .057). Specifically, patients with unilateral cleft lip and palate were significantly more affected by dental anomalies than those with bilateral cleft lip and palate (p = .00002), and individuals with unilateral complete cleft lip and palate (p = .002) and complete cleft palate (p = .01) were significantly more affected by tooth agenesis than other cleft types. Agenesis of the premolars (p = .043) and maxillary lateral incisors (p = .03) were significantly more frequent in patients with unilateral complete cleft lip and palate. Conclusions : The present study revealed a high frequency of dental anomalies in nonsyndromic cleft lip and/or palate patients and further demonstrated that patients with unilateral cleft lip and palate were frequently more affected by dental anomalies than those with bilateral cleft lip and palate. Moreover, our results demonstrate that dental anomalies should be considered during dental treatment planning for individuals affected by nonsyndromic cleft lip and/or palate.

Objective To evaluate the clinical value of color Doppler signal at the nasal lip in the diagnosis of fetal cleft palate. Methods Twenty fetuses diagnosed with fetal cleft lip and cleft palate by targeted ultrasonography and magnetic resonance imaging were enrolled in this study. Color Doppler was used during each ultrasound scan. All prenatal diagnoses were confirmed either by postnatal follow-up or autopsy. The location and degree of cleft lip and palate was also recorded. During inspiration or swallowing color signal acrossed the defects at the fetal palate was indicated cleft palate, and no color signal acrossed the defects at the fetal palate was indicated without cleft palate. Two dimensional ultrasound combined with color Doppler was used to diagnose cleft lip and palate in midsagittal plane or paratsagittal plane, then compared with the results of post-natal evaluation or abortion, and the value of color signal at the nasal lip in the diagnosis of fetal cleft palate was analyzed. Results Twenty cases of postpartum fetus (including post-natal evaluation or abortion ) confirmed 15 cases of cleft lip and palate, 5 cases of cleft lip (2 cases with upper alveolar cleft). For prenatal diagnosis, 5 cases of cleft lip and 15 cases of cleft lip and palate were diagnosed by two-dimensional ultrasound, of which 3 cases of cleft lip and palate were misdiagnosed as cleft lip, whereas 3 cases of cleft lip were misdiagnosed as cleft lip and palate with 2 cases combined with upper alveolar cleft. Two-dimensional ultrasound in the diagnosis of cleft lip and palate is consistent with postnatal results by additional evaluation of the color signal in nasolabial area in median sagittal section. In the cleft lip and cleft lip with the alveolar cleft fetuses, the color signal in nasolabial area was undetectable during fetal respiratory-like movement or swallowing by ultrasound.However, it was detectable in cleft lip and palate fetuses. A total of 3 cases of simple cleft lip and 17 cases of cleft lip and palate were detected by magnetic resonance imaging(MRI). In 2 cases of cleft lip and palate diagnosed by MRI, no blood flow signal was detected at the nasolabial area. Conclusions The connected color signal in nasolabial area assessed by color Doppler ultrasound during fetal respiratory-like movement or swallowing showed an promising value for prenatal diagnosis of cleft palate. Cleft palate could be ruled out if the connected color signal was undetectable in nasolabial area. Key words: Ultrasonography, prenatal; Cleft palate; Color Doppler signal

Background: Dental anomalies is common feature of cleft lip and palate cases. Clefting is not an isolated condition but rather part of a broader spectrum of malformations involving both facial structures and tooth developmentObjective: To determine and compare the frequency of dental anomalies among children with unilateral and bilateral cleft palateMaterials and Methods: This cross-sectional descriptive study was conducted at the outpatient department of Bacha Khan Dental College, Mardan, involving 82 participants aged 4 to 20 years. Patient history, clinical examination, and panoramic radiographs were employed to identify common dental anomalies, like lateral incisor agenesis, supernumerary teeth, peg-shaped lateral incisor, lateral incisor microdontia, agenesis of the maxillary second premolar, and enamel hypoplasia. The Chi-square test was used to compare dental anomalies between unilateral and bilateral cleft palate cases, with the significance level set at p < 0.05.Results: The age was 12.12 ± 5.21 years, with a gender distribution of 28 (34.15%) females and 54 (65.85%) males. Unilateral cleft palate (n=56, 68.29%) was more common than bilateral (n=26, 31.71%). The frequency of dental anomalies included 37.80% exhibiting lateral incisor agenesis, 21.95% supernumerary teeth, 17.07% peg-shaped lateral incisor, 17.07% lateral incisor microdontia, 20.73% agenesis of the second premolar, and 9.76% clinical enamel hypoplasia. No statistical significant difference was found for all dental anomalies between unilateral and bilateral cleft palate (p>0.05).Conclusion: Dental anomalies are quite prevalent in both unilateral cleft lip and palate (UCLP) and bilateral cleft lip and palate (BCLP) patients. Importantly, no statistically significant differences were observed between these two groups.Keywords: Bilateral, Cleft lip and palate, Dental anomalies, Unilateral.

The aim of our study was to review clinical and epidemiologic characteristic of the nonsyndromic cleft lip and cleft palate over a period of 10 years at West China Stomatological Hospital, Sichuan University. Four thousand two hundred sixty-eight nonsyndromic cleft lip and cleft palate cases were retrospectively analyzed according to the following variables: general information, cleft type, maternal age, familial history, as well as associated malformations, et al. In these cases, 1075 of which were cleft lip, 1985 were cleft lip with cleft palate; 1208 were isolated cleft palate. There were more men than women in the cleft lip and cleft lip with cleft palate group, while there were more women than men in the isolated cleft palate group. There were significantly more unilateral cleft lip cases than cleft lip on both sides; the cases of cleft lip on the left side were more than that of cleft lip on the right side. The cases with inherited history accounted for 6.68% of all the cases. Most infection cases occurred among the deleterious factors and the complications experienced during the first 3 months after the pregnancy. In all of the 14 twin cases, only 1 of the babies was affected. There were totally 152 cases with other associated malformations. Patients with cleft lip born in November to January were less than those born in the other three quarters of the year. Patients of A blood group composed a higher proportion than the control group. Our data may provide references for appropriate resource use, cleft lip and cleft palate prevention programs, and counseling programs with China-specific data.

Some Underlooked Properties of the Multifactorial/Threshold Model

Anaesthesia for cleft lip and palate surgery

IntroductionNon-syndromic cleft lip with or without cleft palate is a common worldwide birth defect due to a combination of environmental and genetic factors. Genome-wide association studies reported the rs7078160 of Vax1 is closely related to non-syndromic cleft lip with or without cleft palate in European populations. The following studies showed the same results in Mongolian, Japanese, Filipino, Vietnamese populations etc. However, conflicting research had been reported in Chinese population, ObjectiveThe aim of this study was to investigate the association between the rs7078160 polymorphism and non-syndromic cleft lip with or without cleft palate in Southern Chinese patients. MethodsIn this study, we investigated the polymorphism distribution of rs7078160 in 100 complete patient trios (39 patients with non-syndromic cleft lip and palate; 36 patients with non-syndromic cleft lip only; 25 had non-syndromic cleft palate only; and their parents) from Southern ethnic Han Chinese. 60 healthy trios were selected as control. Polymerase chain reaction and Sanger sequencing were used to genotype rs7078160 in Vax1; both case–control and family-based associations were analyzed. ResultsThe case–control analyses revealed the rs7078160 polymorphism was significant, associated with non-syndromic cleft lip with or without cleft palate (p=0.04) and non-syndromic cleft lip and palate (p=0.01), but not associated with non-syndromic cleft lip only and non-syndromic cleft palate only patients. The genotype composition of rs7078160 comprises mutated homozygous AA, heterozygous AG and wild homozygous GG. Cases with AG+AA genotypes compared with GG homozygotes showed an increased risk of non-syndromic cleft lip with or without cleft palate (p=0.04, OR=2.05, 95% CI: 1.01–4.16) and non-syndromic cleft lip and palate (p=0.01, OR=3.94, 95% CI: 1.34–11.54). In addition, we did not detect any transmission-disequilibrium in rs7078160 (p=0.68). ConclusionThis study suggests that rs7078160 polymorphism is a risk factor of non-syndromic cleft lip with or without cleft palate, and Vax1 is strongly associated with non-syndromic cleft lip with or without cleft palate in Southern Chinese Han populations.

Introduction: Cleft lip and palate are most common developmental anomaly of head and neck region affecting a great number of newborns worldwide. Further it gives rise to psychosocial and financial strain to the affected family especially in developing countries like India. The exact etiology and pathogenesis of cleft lip and palate is still an enigma and behave as a complex process involving several genetic and environmental factors. Objective: To assess the pattern of cleft lip and palate cases and to analyze if any relation to environmental factors present in Bihar region. Materials and Methods: This retrospective study was conducted in Government Hospital of Patna, Bihar through evaluating the recorded medical files of cleft lip and palate cases of 5 years duration and self designed data forms were filled. Results: Results were obtained through analyzing the obtained data and were tabulated. Percentage and frequency was evaluated to assess the pattern of incidence of such anomalies. Conclusion: The present study is in favor of conceptualization of multifactorial theory involved in occurrence of cleft lip and palate. Furthermore, it also provides a baseline data for future reference which might help in conducting any researches on this particular area. Keywords: Cleft lip, Cleft palate, Factors, Incidence, Retrospective.

Aims: This study was conducted to assess the epidemiology and some of the possiblerisk factors causing cleft lip and palate in Erbil city.Materials and Methods: the data were obtained from the records of Raparinpaediatric and maternity hospital in the center of Erbil city. The file records oflive births during a period from January 2000 to January 2008 were reviewed forthe occurrence of cleft lip and palate. The cleft cases were evaluated for site andtype of cleft and sex of the infant. and some risk factors.Results: 121 cleft lip and/or palate cases out of 60418 live births were registered. Theoverall incidence was 2:1000 live births. The percentage of cleft lip and palate,cleft palate only, cleft lip only was 55%, 30%, and 15% respectively. The ratioswith respect of left or right or bilateral cleft was approximately 4.5:2:1.The infantsex and site of family residence showed no significant influence on the incidenceof clefting. Maternal age of more than 30 years, maternal smoking, and positivefamily history of clefts, consanguineous marriage and low infant birth weightsignificantly increased the incidence of cleft lip and palate. About 7.4% of cleftcases were associated with other congenital anomalies, most frequentlycongenital heart disease.Conclusion: The incidence of cleft lip and/or cleft palate is 2:1000 births. Theincidence of cleft lip and palate is two times greater than cleft palate alone, andthree times than cleft lip alone. Cleft lip was two times greater on the left sidethan on the right side. The incidence of clefts was greater in males than females.

The precise origin of cervical vertebral anomalies is still unstated, but it has been suggested that the association between abnormal development of cervical vertebrae and the maxilla and the mandible might be caused by a developmental fault of the mesenchyme as these structures might be dependent on the similar para-axial mesoderm. Hence it is appropriate to focus on this area of research and to consider the craniofacial morphology as an important diagnostic tool in Orthodontic treatment planning. The present study was planned to evaluate the association of Cleft lip and Cleft palate with cervical vertebral anomalies.
 The present study was planned in Department of Pediatric and Preventive Dentistry, Buddha Institute of Dental Sciences & Hospital, Patna, Bihar, India. Thirty cases of Cleft Lip and Cleft Palate (CLCP) patients were enrolled in the present study. The age of the patients ranged from 5 years to 15 years. The cleft sample were subdivided into patients with CP only, and unilateral cleft lip and palate (UCLP) and bilateral cleft lip and palate (BCLP). Radiographs were examined on a film viewer by a single examiner. The profile of first four cervical vertebrae and Atlanto Occipital Articulation were structurally traced on an acetate paper with 3H lead pencil under optimum illumination and Cervical Vertebral Anomalies (CVA) were registered and categorized into Posterior Arch Deficiencies - PAD (dehiscence and spina bifid) and fusion.
 The present study concludes the association between cleft lip and palate and Cervical Vertebral Anomalies indicating that CVA may be implicated as the etiology of cleft lip and palate. The present study showed a specific relation between the Cleft Palate and cervical anomalies and the vertebral anomalies following a specific pattern in different types of cleft was found to be PAD which occurred more frequently in UCLP and CP only and fusion occurring significantly more often in BCLP.
 Keywords: Cleft Lip and Cleft Palate; Cervical Vertebral Anomalies; Dehiscence; Fusion; Lateral Cephalograph

Objective: To establish the functional models based on various shapes of bone defects in isolated cleft palate patients and to classify the bone defects of the cleft palate cases using different functional curves. Methods: Tracking back from January 2018 to December 2018, 143 patients with cleft palate (Veau Ⅰ & Ⅱ) treated in Department of Oral and Maxillofacial Surgery, Peking University School and Hospital of Stomatology, were included (age of 7 months to 25 years, average age 1.6 years, median age 1.0 year, the male to female ratio was 0.57∶1).The pre-operative (CT) data sets were reconstructed into a three dimensional model to produce a direct image of the cleft palate. According to the shapes of the bone defect, cleft palate cases were divided into three types, i.e."" shape, inverted "V" shape and inverted "U" shape, and then the cases were assessed and reviewed by five examiners independently. Using Microsoft Excel software, the curves of the bone defect were placed in the coordinate system for mathematical modeling, including exponential function (y=ae(bx)), linear function (y=ax+b) and logarithm function (y=alnx+b). The function of the maximum fit R(2) value was used as the final fit curve. Statistical analysis was performed in four aspects: ① The reliability and feasibility of the curve fitting of the functions; ② The calculation of the composition ratio of the types of bone defect; ③Analyzing the correspondence between the subjective judgment results and fitting function curves; ④ The R(2) values of three types of functional curves homologous to different morphological types, and the data were tested by variance analysis and P values were shown. Results: Among the 143 patients with cleft palate, the "" shaped defect accounted for 18% (26/143), the inverted "V" shaped defect accounted for 31% (44/143), and the inverted "U" shaped defect accounted for 51% (73/143). The coincidence rate of the "" shaped defect with the exponential function (y=ae(bx)) was 96%, the coincidence rate of the inverted "V" shaped defect with the linear function (y=ax+b) was 82%, and the coincidence rate of the inverted "U" shaped defect with the logarithmic function (y=alnx+b) was 93%. The differences in R(2) values amongst the three groups were statistically significant (P<0.05). Conclusions: The shapes of bone defects of the incomplete cleft palate can be described by functional curve models which include exponential, linear and logarithmic functions and can be used to classify and lay the foundation for digital classification of cleft lip and palate cases.

There is a paucity of literature on the incidence and distribution of cleft lip and palate cases in the population of Bihar leading to an unmeasured gap in the status of cleft patients in this part of the country. The present study assessed the pattern of cleft cases in the community reported at the largest cleft center in the state under Rashtriya Bal Swasthya Karyakram (RBSK). The study was a questionnaire-based, cross-sectional study conducted over one month at a tertiary care center in Bihar. It included all patients with cleft lip and palate, below the age of 5 years, either isolated or combined, attending the OPD or admitted to the ward in the plastic surgery department. The demographic distribution of cleft lip patients included 16% cleft lip, 6% cleft lip with alveolus, 2% microform, 46% cleft palate, and 30% cleft lip with cleft palate. Bilateral cases contributed to 42% of all cases. Male to female ratio was 3:2 with a ratio of 5:3 in cleft lip, 2:1 in cleft lip with alveolus, 0:1 in microform, 12:11 in cleft palate, and 11:4 in cleft lip with palate patients, respectively. The incidence and distribution of cleft lip and palate were found to be similar to the studies done in other parts of India. Registration of cleft cases under the RBSK project of the central government has led to affordable treatment for poor patients in the state of Bihar.

PURPOSE: Nonsyndromic cleft lip and/or palate (NSCLP) is the most common congenital craniofacial anomaly. Early recognition of any associated developmental delay is critical to counseling families and developing individualized treatment plans. Here we sought to identify developmental delays associated with NSCLP in a large population of children in order to begin identifying etiology and improve multidisciplinary management. METHODS: This is an IRB-approved, single-center retrospective analysis of all patients with a diagnosis of cleft lip and/or cleft palate between 5 and 21 years of age. Demographic and clinical variables were collected from this patient population as well as from children comprising the 2018 National Survey of Children’s Health database. RESULTS: All children with an identified or suspected genetic syndrome were excluded (160 in our cohort and 1383 in the National Survey of Children’s Health database). Subsequently, 619 children in our cohort and 29,147 in the National Survey of Children’s Health database were identified with NSCLP and included in our analysis. The mean birth weight amongst NSCLP children was lower than that in the national cohort (108.5 ± 24.8 oz versus 117.8 ± 19.1 oz; P < 0.0001). Nearly one-fourth (25.8%) of children with NSCLP were admitted to the NICU at birth. The distribution of cleft lip/palate diagnoses in the NSCLP cohort is shown. Compared with the national cohort, children with isolated cleft palate had significantly higher rates of intellectual disability (3.2% versus 0.5%, P < 0.00001), speech delay (70.8% versus 7.1%, P < 0.00001), global developmental delay (15.7% versus 5.8%, P < 0.00001), cerebral palsy (2.2% versus 0.3%, P < 0.00001), and hearing loss (25.9% versus 1.0%, P < 0.00001). Rates of learning disability (7.0% versus 5.9%, P = 0.529), behavioral delay (7.6% versus 11.4%, P = 0.1038), ADD/ADHD (2.7% versus 2.3%, P = 0.7032), autism (4.3% versus 5.5%, P = 0.5005), and vision loss (1.6% versus 1.2%, P = 0.5764) were comparable between those with isolated cleft palate and the national cohort. Children with cleft lip (with or without cleft palate) had significantly higher rates of ADD/ADHD compared with the normative national cohort: isolated cleft lip (7.7% versus 2.3%, P = 0.0092), unilateral cleft lip and palate (4.6% versus 2.3%, P = 0.0088), bilateral cleft lip & palate (5.9% versus 2.3%, P = 0.0153). CONCLUSIONS: Our study demonstrates, for the first time, higher rates of various developmental delays in children with NSCLP compared with the general pediatric population. This includes increased rates of intellectual disability, global delay, and cerebral palsy in children with nonsyndromic isolated cleft palate and increased ADD/ADHD in children with cleft lip (with or without cleft palate). The association of NSCLP diagnoses with developmental delays highlights the importance of proper risk assessment of patients, appropriate family counseling, and multi-disciplinary team management.

Backgroud: Timing of surgery in the patients with cleft lip palate is an important factor of prognosis. Delaying in surgical repair of cleft lip and palate patient may lead to difficulty. It may causes wide, extensive and difficult dissection. There are always chances of wound infection, wound dehiscence, complete wound disruption, fistula formation, even there is also chance of maxillary hypoplasia and failure to articulate lifelong. The purpose of this study to observe the effects of cleft lip repair in early age on cleft alveolar and cleft palatal gap thus helps during cleft hard palate repair in patients with unilateral complete cleft lip and palate (UCLP). Methods: A retrospective study was done from January 2008 to July 2013. Patients with unilateral complete cleft lip and palate included in this study, who under went cleft lip at first admission and then and after 3 months of cleft palate was repaired. Patients with previous cleft lip-palate surgery were excluded. The gaps of cleft alveolus and posterior border of the cleft hard palate were recorded during 1st and 2nd operations. Age, gender, side of the cleft, associated anomalies, family history of cleft, cleft alveolar and cleft palatal gap noted, postoperative complications were also recorded. All the data were Results: A total of 63 patients included in this study. Age ranged from 4 months to 8 years. 38 patients were male and 25 were female. Right side was involved in 20 and 43 patients involved in left side. Eight patients had positive family history. Nine had associated congenital anomalies. Cleft alveolar and palatal gap reduced more in the patients who were below the age of 18 months. Postoperative complications were mild respiratory distress, notching of vermilion border developed oronasal fistula.Conclusion: In unilateral complete cleft lip palate patient, early cleft lip repair results, reduction of gaps of alveolar cleft and that of hard palate remarkably, especially in the patients who came for cleft lip surgery in appropriate time.DOI: http://dx.doi.org/10.3329/cmoshmcj.v13i3.21023