Context: Orofacial cleft (OFC) is one of the common craniofacial malformations. The etiology of these OFCs is multifactorial. One of the etiological factors is consanguinity (marriage between blood relatives). There is a lack of literature reporting the number of people affected with OFCs due to consanguinity. Aims: The aim of this study is to report the occurrence of OFC and associated factors in relation to consanguinity from a craniofacial hospital specializing in OFCs, head and neck cancer, and trauma management in South India. Setting and Design: This was a hospital-based study, retrospective case record analysis. Methodology: One thousand two hundred and forty-seven consecutive patients' secondary data records with cleft lip (CL), cleft palate (CP) and cleft lip and palate (CL/P) were collected from January 2007 to July 2009. Statistics: Frequency of consanguinity in relation to OFC was analyzed using Chi-square test according to the nature of clefts and selected demographic features such as sex, region, and religion. Results: A total of 47.2% patients' parents had consanguineous marriage. Consanguinity was seen in 60.2% of male and 39.7% of female patients. CL/P was noticed in 40.9%, followed by CL (36.7%) and CP (22.2%). Males predominated in all types of clefts proportionally with the study population as compared to females. Statistically, significant association (P = 0.04) was seen with consanguinity and CP. Conclusion: Nearly half of the study population had a positive history of consanguinity. Statistically, a significant association was seen between CP and consanguinity. CL/P cases were the most common type identified, followed by CL and CP. Males predominated in all types of clefts. The prevalence of OFC is high, and there is a potential of congenital disabilities from consanguinity. These findings indicate a clear and urgent need for setting up a National Registry of Congenital Anomalies along with craniofacial defects, to monitor these trends and the corresponding need for supportive services.

Introduction: Nonsyndromic cleft lip and/or palate (NSCLP) occurs as a result of multifactorial determinants, involving both genetic and environmental factors. Several candidate genes associated with NSCLP have been discovered through genetic approach, but there is paucity of studies focusing on epigenetic determinants in NSCLP. We are interested to reveal linkage evidence of SATB2 at 2q region in large-extended NSCLP families of Malay population and its methylation activity in causing cleft formation. Materials and Methods: Eight large-extended families were included in this study. Microarray analysis was carried out and genome-wide linkage was determined using GeneHunter Multipoint Linkage Analysis v2.1r5. SATB2 methylation was tested on 100 NSCLP patients by DNA sequencing. Results: Genome-wide linkage analysis has revealed significant nonparametric linkage score and suggestive logarithm of the odds (LOD) score at 2q region in family 50 and family 100. Genome-wide heterogeneity LOD score of 2.63 and α =0.122 were found in total families at 2q33.1-q35 region. Significant copy number loss (P < 0.05) in NSCLP family compared with the normal control supports the linkage evidence of SATB2 in those families with positive linkage. Epigenetic testing found SATB2 unmethylation at DNA promoter region. Discussion: Linkage evidence and significant low copy number of SATB2 in NSCLP family of Malay population confirmed that genetic factors play a major role in causing cleft defects. SATB2 unmethylation could not support the epigenetic occurrence in causing craniofacial deformities. Conclusions: Linkage evidence and significant low copy number of SATB2 in NSCLP family of Malay population confirmed that genetic factors play a major role in causing cleft defects. SATB2 unmethylation could not support the epigenetic occurrence in causing craniofacial deformities.

Context: Facial asymmetry has been reported to be a typical morphological characteristic of unilateral cleft lip and palate (UCLP). Posteroanterior cephalometric radiographs have shown that in addition to an asymmetrically developed nasomaxillary complex, children with UCLP may also have distorted mandibles. Aims: The aim of this retrospective study was to evaluate mandibular symmetry in participants with a complete unilateral left cleft lip and palate (ULCLP) using panoramic radiographs. Subjects and Methods: Pretreatment records of 163 participants (84 ULCLP, 79 Angle Class I without a cleft; mean age: 12.9 ± 3.5 years) were retrieved from the orthodontic department archives. A total of ten anatomic landmarks were marked on panoramic radiographs, and measurements were performed using the PORDIOS software. Statistical Analysis Used: Intra- and inter-group differences were analyzed using Student's t-test. Results: Mandibular right and left ramus, total ramus, condylar, and mandibular molar alveolar heights were significantly shorter in the ULCLP group when compared to controls (P < 0.05 to P< 0.001). In the ULCLP group, mandibular and corpus lengths were shorter on the left side (P < 0.05), whereas in the control group, mandibular and corpus lengths and ramal, condylar, and molar alveolar heights were shorter on the right side when compared to the left side. In addition, ramus/corpus angles were significantly larger in the ULCLP group when compared to the control group (P < 0.001). Conclusions: Mandibular asymmetry exists to varying extents in ULCLP patients and is characterized mainly by smaller cleft-side dimensions. Discrepancies in left-right mandibular dimensions also occur in normal participants.

Aim: The aim of this longitudinal study was to evaluate the efficacy of alveolar bone grafting with autologous platelet-rich plasma (PRP) over cancellous bone grafting alone in cleft alveolus patients. Materials and Methods: A total of 30 patients were evaluated, out of which 15 patients were subjected to alveolar bone grafting with cancellous bone and 15 patients underwent alveolar bone grafting with autologous PRP along with cancellous bone graft. Autologous PRP was extracted using a plasma centrifuge machine. Chi-square test was used for statistical analysis, which revealed statistically significant (P < 0.05) in the study group and control group. Results: Radiographic evaluation was done on the amount of graft resorption at the end of 6 months postoperatively. Success of the graft was assessed with the help of Bergland scoring criteria. Conclusion: Results obtained from our study suggested that resorption of bone graft was comparatively less in the study group as compared to control group.

Introduction: Measurement of treatment outcome is vital in estimating the success of cleft management and for quality improvement, especially in the present age. Scoring systems for the measurement of cleft lip treatment outcome can be broadly divided into qualitative and quantitative methods. Millard's rotation-advancement technique is a commonly used technique for cleft lip repair. Aims and Objectives: The aim and objective of this study was to assess the esthetic outcome of unilateral cleft lip repaired by Millard technique through a scoring system. Materials and Methods: The study comprised fifty patients with unilateral cleft lip who presented to our department for lip repair. Specific preoperative assessment of the extent of deformity was done by photographic evaluation and scoring. The preoperative assessment was done using an initial scoring system (ISS). Different scores were allotted to each of the nose and lip components, so as to grade the deformity from nil to severe. On the basis of ISS scoring, the cleft lip patients' preoperative deformity was graded into three grades: Mild, moderate, and severe. All patients were operated by a single surgeon, with extensive experience in cleft care. Postoperative evaluation was performed on the same lines, using postsurgical score as proposed by Asher-McDade et al., and further graded into excellent, good, fair, poor, and very poor. Nasolabial areas were evaluated independently by a panel of five investigators preoperatively and postoperatively at 1 week, 1 month, 3 months, and 1 year, the mean value and standard deviation were calculated in each group. Statistical analysis was done in all patients using appropriate statistical tools, with a confidence interval of 95%. Results: Incomplete cleft lip has better esthetic outcome than complete cleft lip repair using Millard's technique. Conclusions: Esthetic outcome depends on the extent of preoperative deformity, and the Millard method of lip repair shows excellent outcome in incomplete lip repair.

Introduction: Babies born with cleft palate suffer from feeding problems which interfere with their nutrition and development; thereby, hampering the criteria for subsequent corrective surgery. The palatal cleft interferes with nursing and causes insufficient suckling or nasal regurgitation of food. Because of altered anatomy and presence of oro-nasal fistula, baby tends to present suction difficulties due to lack of negative intraoral pressure. Upper respiratory tract infection and chronic catarrh are not frequent. Materials and Methods: Here is a patented device for attaching on commercially-available feeding bottles to facilitate effective nutrition method. The device's journey from concept to clinical use has been presented with a case series. Results: The device was tried and tested successfully in many babies born with Cleft palate. It has been successfully used to feeding neonates by their mothers/care-takers with almost no training required. Conclusion: The device is extremely easy to use, easy to maintain and economical. In cases where modifying the feeding position alone cannot make much difference, these attachments can be advocated.

The purpose of this communication is to explore in detail the developmental anatomy of the soft palate, its pathologies, and strategies for management. Despite the voluminous literature regarding complete cleft palate in its usual presentation, little attention has been paid to the biology of the isolated soft palate cleft. It exists as a spectrum, ranging in severity from the submucous variant, with nothing notable save a groove and a palpable defect of the posterior spine, all the way to a complete disruption of the soft tissue envelope and the horizontal palatine shelves. All these presentations are but variations of common pathology. Much can be gained from a disciplined examination of these. Our discussion includes two parts. The first part is on the embryologic events that generate the mesenchymal building blocks from which the posterior palate is constructed: palatine bone, oral and nasal mucosa, palatine aponeurosis, and muscle slings. Palate structures develop from neural crest and mesoderm; these tissues originate at specific sites along the axis of the embryo and they can be mapped according to the developmental units of the central nervous system (CNS) from which they are innervated. These units, called neuromeres, are specific zones within the neural tube, the boundaries of which are established by the expression pattern of homeotic genes. The forebrain (prosencephalon) has telencephalon and 3 prosomeres, the midbrain (mesencephalon) has 1-2 mesomeres, and the hindbrain (rhombencephalon) has 12 rhombomeres. Each neuromere has a specific neuroanatomic content and is hardwired to specific tissues outside the brain. We next consider a model of the palate which is analogous to a pinball machine that consists of a platform (bone) and mobile “flippers” or lever arms (the velum). In this study, the osseous platform is discussed in detail with neural crest bones being coded by the sensory innervation of their surrounding soft-tissue envelope. Maxilla, palatine bone, and vomers are all derivatives of hindbrain neural crest arising from rhombomere 2 but distributed according to various neurovascular pedicles of the V2 stapedial system, the anatomy of which will be explained in detail. Next, the evolution of palate will be presented as a series of innovations favoring increased metabolic capacity. A final appendix presents a functional classification of cranial nerves which I have endeavored to make straightforward. This will prove useful when reading the second part of this manuscript having to do with the neuromuscular apparatus of the soft palate.

Apocrine gland cyst (sudoriferous cyst and apocrine hidrocystoma) is fairly uncommon in the eyelid, where it derives from the apocrine glands of Moll. In rare instances, an apocrine gland cyst can occur in the anterior portion of the orbit. If an orbital cyst affects the globe or extraocular muscles, it should be excised as soon as possible to prevent strabismus and amblyopia. Herewith, we are presenting the case of sudoriferous cyst in a 9-year-old child managed with surgical excision.

Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. Incidence of this syndrome is approximately 1 in 50,000 live births and it affects both genders equally. This article describes clinical features of TCS in a 12-year-old female who had reported to the Department of Oral Medicine and Radiology. TCS affects structures which are derivatives of the first and second brachial arches which was also observed in this patient presenting with antimongoloid slanting of the palpebral fissures, colobomas of the lower eyelid, hypoplasia of zygoma and mandible, and an ear abnormality.

Turner's syndrome is a rare genetic disorder that affects development in female. It is associated with multiple medical issues such as impaired growth, ovarian insufficiency, cardiovascular abnormalities, and endocrine and skeletal abnormalities. Hypertrichosis is the growth of an increased quantity of thick hair on any part of the skin surface; it is mostly seen as an isolated finding but rarely associated with other abnormalities. Cleft lip and palate are uncommon anomalies in Turner's syndrome and anterior cervical hypertrichosis. We report a case of cleft palate associated with Turner syndrome and anterior cervical hypertrichosis. The clinical features, diagnosis, and its management are discussed.