The role of folic acid in oral clefting. (1/31)

The objective of this study is to describe the role of periconceptional folic acid supplementation and assess it's potential in the prevention of foetal abnormalities, and consists of a review of the literature undertaken using an electronic and hand search. This includes research trials and methodology associated with folic acid supplementation. It is recommended that all women planning to conceive should supplement their diet with folic acid in order to prevent abnormalities in neural tube development, particularly if there is a history of a previously affected pregnancy. There is increasing evidence that folic acid supplementation may, in addition, reduce the incidence of oral facial clefting. Further research with multi-disciplinary approaches in biochemistry, genetics, gene/environment interactions, and embryology are indicated.  (+info)

An analysis of the skeletal relationships in a group of young people with hypodontia. (2/31)

The objective of this investigation was to examine the dentofacial features of a group of patients with hypodontia, in particular assessing whether cephalometric analysis confirmed the clinical assumption of a reduced lower face height, and to determine the relationship of these facial features with different numbers of missing teeth. It took the form of a cephalometric study, undertaken in a dedicated Dental Hospital clinic for patients with hypodontia. The study group comprised 59 patients seen on the Hypodontia Clinic: 32 females, 27 males, mean age 13.1+/-3.1 years (range 6-23 years). The average number of missing teeth was 7 (SD 5), ranging from 1 to 21. The mean SNA, SNB, and MMA angles were within normal limits, but there was a statistically significant reduction in the MMA when more than one tooth type was missing (P = 0.007) and the ANB angle decreased as the number of missing tooth types increased (P = 0.034). The mean values for the whole sample were within the normal range and did not demonstrate any feature specific to the group, but patients with more severe hypodontia showed tendencies to a Class III skeletal relationship and a reduced maxillary-mandibular planes angle.  (+info)

Thalassemias and their dental implications. (3/31)

Thalassemias constitute a form of anemia that pose clear problems in relation to dental treatment. Dental professionals must be aware of the treatment adaptations required in patients with severe forms of beta-thalassemia. Until medical research is able to afford a definitive solution to these diseases (thereby greatly simplifying the dental management of such patients), effort will continue to center on the improvement of available therapeutic modalities, with the aim of obtaining effective and inexpensive oral chelators and drugs that either individually or in combination allow increases in fetal hemoglobin levels. Undoubtedly, the use of such measures together with serial blood transfusions has made it possible for an ever increasing number of patients with beta-thalassemia to reach adult age, where the provision of integral rather than merely palliative dental treatment must be seriously considered. At present, the clinical orofacial manifestations caused by the erythroid mass expanding the facial bones - resulting in dental malocclusions and protrusions tend to be less intense as a result of early medical treatment. In the future, gene therapy may be expected to allow a normal facial appearance thanks to complete healing of the patient.  (+info)

Airway management in an infant with congenital centrofacial dysgenesia. (4/31)

The use of a laryngeal mask airway (LMA) on two occasions, in a 53-day-old and 270-day-old male infant with Tessier N.3 and N.4 facial defects, using sedation and topical anaesthesia is described. The LMA was used to manage the airway and facilitate inhalation induction of anaesthesia as the facial deformities were thought to be too extensive for the safe use of a facemask. The LMA is an alternative to a facemask and secures the airway and facilitates the inhalation induction of anaesthesia in paediatric patients with severe facial deformities.  (+info)

Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia. (5/31)

Cleft palate is a common birth defect, but its etiopathogenesis is mostly unknown. Several studies have shown that cleft palate has a strong genetic component. Robin sequence consists of three of the following four findings: micrognathia, glossoptosis, obstructive apnea, and cleft palate. While cleft palate is mainly nonsyndromic, about 80 percent of Robin sequence cases are associated with syndromes. Mutations in genes coding for cartilage collagens II and XI, COL2A1, COL11A1 and COL11A2, have been shown to cause chondrodysplasias that are commonly associated with Robin sequence, micrognathia or cleft palate. We therefore analyzed a cohort of 24 patients with nonsyndromic Robin sequence, 17 with nonsyndromic cleft palate and 21 with nonsyndromic micrognathia for mutations in COL11A2. A total of 23 Robin sequence patients were also analyzed for mutations in COL2A1 and COL11A1. We detected two disease-associated mutations in patients with Robin sequence, an Arg to stop codon mutation in COL11A2 and a splicing mutation in COL11A1. Two putatively disease-associated sequence variations were found in COL11A1 in Robin sequence patients, one in COL11A2 in a patient with micrognathia and one in COL2A1 in two patients with Robin sequence. The results showed that sequence variations in these genes can play a role in the etiology of Robin sequence, cleft palate and micrognathia but are not common causes of these phenotypes.  (+info)

Spectrum of dentofacial deformities: a retrospective survey. (6/31)

INTRODUCTION: This retrospective study investigates the spectrum of dentofacial deformities, demographic profile, management and surgical outcomes of orthognathic patients treated in the University Hospital in Malaysia. MATERIALS AND METHODS: Over a period of 10 years (1989 to 1999), 34 patients with dentofacial deformities who had orthognathic surgery were reviewed; patients with cleft lip and palate or syndromes were excluded. RESULTS: The mean age (range, 17 to 35 years) of the patients was 24.3 years and the ratio of female to male was 2.4:1. The predominant ethnic group was Chinese, with females (47.1%) forming the largest group. The main reason for seeking surgery was aesthetic improvement (41%). The majority of the patients had skeletal class III pattern (91%) and bilateral sagittal split osteotomy was the most common surgery done (82%). Postoperative complications were mainly paraesthesia/numbness (56%) and infection (15%). In long-term review, 2 (6%) patients had persistent numbness of the inferior alveolar nerve. CONCLUSION: The findings suggest that the majority of the patients are young adult female students with skeletal class III pattern and treated for mandibular prognathism. The complication of persistent numbness and higher rate of postoperative infection indicate that longterm reviews and good antibiotic prophylaxis/therapy are necessary.  (+info)

Oromaxillofacial osseous abnormality in Sturge-Weber syndrome: case report and review of the literature. (7/31)

We report a case of a 17-month-old child affected by Sturge-Weber syndrome who had unusually rapid overgrowth of the left frontal, temporal, orbital, and maxillary regions. CT angiography illustrated osteohypertrophy with periostitis and associated soft tissue hypertrophy directly corresponding to the distribution of the cutaneous port-wine stain. Extended maxillectomy was performed because of rapid growth and clinical debilitation, with surgical pathology revealing juvenile ossifying fibroma.  (+info)

Mowat-Wilson syndrome. (8/31)

Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies. The prevalence of MWS is currently unknown, but 171 patients have been reported so far. It seems probable that MWS is under-diagnosed, particularly in patients without HSCR. MWS is caused by heterozygous mutations or deletions in the Zinc finger E-box-binding homeobox 2 gene, ZEB2, previously called ZFHX1B (SIP1). To date, over 100 deletions/mutations have been reported in patients with a typical phenotype; they are frequently whole gene deletions or truncating mutations, suggesting that haploinsufficiency is the main pathological mechanism. Studies of genotype-phenotype analysis show that facial gestalt and delayed psychomotor development are constant clinical features, while the frequent and severe congenital malformations are variable. In a small number of patients, unusual mutations can lead to an atypical phenotype. The facial phenotype is particularly important for the initial clinical diagnosis and provides the hallmark warranting ZEB2 mutational analysis, even in the absence of HSCR. The majority of MWS cases reported so far were sporadic, therefore the recurrence risk is low. Nevertheless, rare cases of sibling recurrence have been observed. Congenital malformations and seizures require precocious clinical investigation with intervention of several specialists (including neonatologists and pediatricians). Psychomotor development is delayed in all patients, therefore rehabilitation (physical therapy, psychomotor and speech therapy) should be started as soon as possible.  (+info)