[Functional and aesthetic significance of the uvula in cleft palate repair]. / Rol' yazychka v dostizhenii funktsional'nogo i esteticheskogo rezul'tata uranoplastiki.

OBJECTIVE: To investigate functional and aesthetic role of uvula in cleft palate repair. MATERIALS AND METHODS: Forty-one patients aged from 1 year 2 months to 7 years were included in this study with congenital cleft lip and/or palate. The morphological investigation of the resected hemi- uvula was done. Palatoplasty was performed in all cases. RESULTS: According to morphological results, most of the resected hemi-uvula consisted of vascularized fibrous tissue, covered with epithelium. In three groups of patients (with unilateral, bilateral and isolated cleft palate), the duration of the surgery and intraoperative blood loss did not exceed similar values for conventional methods. The volume of infusion therapy revealed a deficit of fluid intake of no more than 30%, which indicates early restoration of swallowing function. CONCLUSION: The technique of preserving one of the «hemi-uvulas¼ lead to excellent aesthetic results and increasing functionality. Resection of one of the «hemi-uvulas¼ is safe and physiological.

Keep an Eye Out for the Bifid Uvula: A Case Report.

The incidence of submucous cleft palate is between 1:1250-1:6000. It is important for this relatively silent deformity to be identified early and referred appropriately as a delay in diagnosis may affect the patient's quality of speech in the long-term. This paper presents a case of submucous cleft palate which was diagnosed late (age 14). Nevertheless, by the appropriate intervention of the multidisciplinary cleft team, the patient was treated successfully. Clinical Relevance. Dentists and doctors need to be aware of the signs and symptoms associated with submucous cleft palate so that they can refer the patient to an appropriate specialist centre for further investigation and treatment. Moreover, patients with this condition are shown to have a higher incidence of dental abnormalities, such as hypodontia and peg-shaped laterals.

Prevalence of bifid uvula in primary school children.

BACKGROUND: A bifid uvula is an anatomic variation that can be predictive of sub-mucous cleft palate, which may cause velopharyngeal insufficiency (VPI). Bifid uvula prevalence in the literature ranges from 0.18% to 10.3%, depending on the population studied. The aim of this study is to determine the prevalence of bifid uvula in the Geneva's school children population. METHODS: A cross-sectional study was conducted in Geneva's primary school children, from September 2014 to June 2015. An examination of the uvula was performed by dentists working for the Scholastic Dental Service, after a specific training in diagnosing bifid uvulas. The dentists recorded their findings on a standardized form. RESULTS: The total number of school children in Geneva in the school year 2014-2015 was 30,375. 23,961 children had their uvula examined, representing 79% of the total population of school children. Among them, a hundred school children had a cleft uvula. One schoolgirl had no uvula. The prevalence of bifid uvula is 0.42%. Sex ratio (M/F) is 0.96. DISCUSSION: This large study, the second in literature for number of patients examined, identified a prevalence of bifid uvula of 0.42%. This result is in agreement with previous studies.

Congenital fistula of the palate.

Four cases of congenital fistula of the palate are presented. All four patients had a fistula which was situated in the vault with a bifid uvula, submucous separation of the palatal muscles, deformities of the palatal plates and unilateral cleft lip. Velopharyngeal incompetence appeared in primarily treated children. The aetiology and surgical treatment of the congenital defect are discussed.

Cephalometric assessment of cranial abnormalities in patients with acromegaly.

OBJECTIVE AND PATIENTS: Patients with acromegaly (12 women, 26 men) and a control group (36 women, 50 men) were chosen for cephalometry to assess the size, shape and positional characteristics of the craniofacial bones and the upper airways. RESULTS: When compared with the controls, patients of both sexes with acromegaly were found to have significant anomalies in the orofacial skeleton: increased facial height, elongated ascending ramus mandibulae and greater basion-supramentale distance, a negative difference between maxillary and mandibular protrusions, enlarged lower part of the gonion angle and of the angle of inclination of the maxilla, as well as alterations in the neurocranium: enlargement of sella turcica and of sinus frontalis and protrusion of the supraorbital ridges. As for the soft tissues, patients with acromegaly exhibited an elongated soft palate and a diminished angle between the uvular axis and the palatal plane. A comparison between the cephalometric parameters of patients with active acromegaly and those without active disease revealed no significant differences in either sex. CONCLUSION: Patients with acromegaly exhibited an enlargement of all parts of the neurocranium and orofacial bones except the maxilla. The greatest anomaly was seen in the mandible, with greater enlargement of the ascending ramus than of the body of the mandible. The shape of this bone was also altered.

Congenital velopharyngeal incompetence in Kabuki make-up syndrome.

The Kabuki make-up syndrome is characterized by peculiar cranio-facial abnormalities, including cleft lip and palate. A case with velopharyngeal incompetence in a 7-year-old boy is reported. The significance of a possible association of this syndrome with congenital velopharyngeal incompetence is also discussed.

[Van der Woude syndrome]. / Sindrome di Van der Woude.

The familial occurrence of lower lip pits (fistulae, sinuses) with or without the cheilo-gnathouranoschisis complex (cleft lip and/or cleft palate) was first described by A. Van der Woude in 1954. The lip pits syndrome is inherited as an autosomal dominant trait with high penetrance (80%), but its clinical expression is variable. Sometimes there may be microforms with only conical elevation and/or surface openings without any deeper sinuses at the typical sites and without cleft lip/palate. We examined 8 members of an Italian family and we observed one member with lip pits and submucous cleft palate and 4 members with only lip pits. Three of these affected members had congenital absence of second premolars too. The presentation, mode of inheritance, aetiology and genetic significance of lip pits syndrome are reviewed. In our opinion this is the first Italian report of the Van der Woude syndrome.

Clinical and genetic study on 356 Brazilian patients with a distinct phenotype of cleft lip and palate without alveolar ridge involvement.

Oral clefts include cleft lip (CL), cleft lip with cleft palate (CLP) and cleft palate (CP), with wide variations in clinical presentation and degree of severity. We described a sample of individuals with CL and CP without alveolar arch involvement (CL + CP) to verify if the characteristics of this group are distinct from those with CL with or without CP (CL/P) described in literature. The sample was composed of 356 patients with CL + CP, registered at HRCA-USP, Bauru-SP-Brazil. The following characteristics were investigated: sex ratio, parental age at the time of conception, parental consanguinity, familial recurrence, laterality of the cleft and associated anomalies. A subgroup of 30 individuals with microforms of CL and CP were taken from the sample and compared with the remaining cases. Statistical differences were found between this CL + CP sample and the literature data for groups with CL/P regarding laterality, sex ratio, consanguinity, familial recurrence, and the presence of associated anomalies. The microform sample showed a statistical difference in paternal age. In most evaluated aspects, this sample presents similar characteristics to the consulted literature data for CL/P; as do the group of microform cleft cases when compared with the remaining CL + CP sample in this study. Microforms of cleft can represent a target group for investigation into the embryogenetic mechanisms of oral clefts and their phenotypic variability.

Clinical grading system for submucous cleft palate.

Submucous cleft palate is a structural abnormality of the palate. The clinical features vary, as does the functional impairment, which ranges from none to severe. Although there is a poor correlation between the presenting clinical signs and the severity of velopharyngeal insufficiency during speech, a clinical grading system could assist surgical management and allow more meaningful comparisons to be made between outcome studies. The grading system described is based on clinical examination alone and reflects the likely degree of structural abnormality of the musculature of the soft palate.

Submucous cleft palate: variations in bony defects of the hard palate.

We have analysed bony defects of the hard palate in patients with submucous cleft palate to find out whether velopharyngeal insufficiency (VPI) is dependent on the extent of these defects. We evaluated the maxillofacial structures associated with cleft palate by 3-dimensional computed tomography (CT) in 23 children diagnosed with submucous cleft palate. Bony defects of the hard palate were divided into Type I, defined as absent posterior nasal spine (n=12), Type II, V-shaped bony notch (moderate, n=7), and Type III, as bony defect extending into the incisive foramen (severe, n=4) defects, respectively. VPI was found in 10, 3, and 4 patients, respectively. Neither VPI nor the degree of bifid uvula was significantly associated with the types of bony defects.

The frequency of palatal anomalies in Saethre-Chotzen syndrome.

OBJECTIVE: Saethre-Chotzen Syndrome (SCS) is an autosomal dominant disorder with widespread phenotypic variability. Cardinal features include coronal synostosis, blepharoptosis, and limb abnormalities. Cleft palate can also occur, but there are few reports on its frequency. This study was undertaken to determine the prevalence of palatal anomalies in this population. DESIGN: We retrospectively reviewed the records of 51 patients with SCS seen at Children's Hospital Boston over the past 30 years. Palatal findings in our patients were compared with those in the literature. To illustrate the phenotypic variability in SCS, we describe an unusual infant who presented for evaluation of cleft palate and blepharoptosis. Her father had only blepharoptosis; this was the clue to the diagnosis, which was confirmed by finding a deletion in the TWIST gene. RESULTS: In our patients, high-arched palate was noted in 43%, bifid uvula in 10%, and cleft palate in 6%. These figures differed slightly from the combined percentages in published reports: 24% with high-arched palate, 2% with bifid uvula, and 5% with cleft palate. CONCLUSIONS: Palatal anomalies are relatively common in SCS. This entity should be considered in the differential diagnosis of a child with cleft palate, particularly in the presence of blepharoptosis, nasal deviation, and limb abnormalities in the patient or in family members.

Imaging findings of chronic subluxation of the os odontoideum and cervical myelopathy in a child with Beare-Stevenson cutis gyrata syndrome after surgery to the head and neck.

INTRODUCTION: Although uncommon, fractures of the os odontoideum are known to occur in children under 7 years old, following acute trauma. CLINICAL PICTURE: We report a case of chronic subluxation of the os odontoideum resulting in cervical myelopathy in a child with Beare-Stevenson cutis gyrata syndrome after surgery to the head and neck. TREATMENT AND OUTCOME: The patient was initially put in a Halo vest, following which occipital cervical fusion was performed. CONCLUSION: Subluxations and fractures at the odontoid synchondrosis are rare but should be anticipated in young children with risk factors for instability of the cervical spine.

Prevalence of cleft uvula among 2,732 Danes.

A total of 2,732 patients at the Royal Dental College, Copenhagen, were studied for occurrence of cleft uvula. The prevalence was 1.13%, and the ratio of partial to total clefts was 30:1. From a comparison with results of previous studies, it is concluded that the prevalence of cleft uvula in the Danish population appears to be in the same range as in other white populations which have been studied.

Prevalência da fissura de úvula em familiares de fissurados lábio-palatinos / Cleft uvula prevalence in relatives of cleft lip and palate individuals

O objetivo deste estudo foi verificar se a prevalência da fissura de úvula (FU) é maior em familiares de portadores de fissura labiopalatina em relação à população em geral. Esta pesquisa foi realizada com um grupo de estudo composto por 136 familiares de pacientes fissurados e com um grupo controle formado por 287 indivíduos sem história familiar de qualquer deformidade craniofacial. A metodologia consistiu em inspeção da cavidade oral por 2 examinadores, com luz direcionada ao palato posterior e auxílio de abaixador de língua e jatos de ar para elicitar o reflexo do vômito e definir e extensão da FU, segundo a classificação de Meskin. Os resultados mostraram que a prevalência da FU no grupo de estudo foi 2,9:100, sendo todas classificadas como parciais 25% de extensão, e no grupo controle 2,4:100, sendo que prevaleceu a parcial 25%. Concluiu-se que a FU não prevalece em familiares de portadores de fissuras labiopalatinas; não há correlação com o gênero e a fissura de úvula parcial 25% foi a mais incidente.

The goal of this study was to verify if the prevalence of cleft uvula is higher in families of cleft palate individuals than in the general population. The study group was composed of 136 relatives of cleft individuals and the control group was composed of 287 individuals without family history of cleft palate. The methodology consisted of oral examination by two examiners, with depression of the tongue to elicit the vomit reflex and air jets to define the cleft extension according to Meskin’s classification. The results showed that the study group presented a 2,9:100 prevalence of cleft uvula being all classified as partial 25% of extension and the control group showed a prevalence of 2,4:100, with higher occurrence of partial 25% of extension. In conclusion, the cleft uvula does not prevail in relatives of cleft palate individuals in relation to the general population, there is no sex correlation and the cleft uvula classified as partial 25% of extension has higher incidence.

Cleft uvula: prevalence and genetics.

The prevalence of cleft uvula (CU) was determined among 70,359 school children 6-18 years of age; 90 children having the condition were chosen as probands for a family study. Prevalence of CU was 0.44 per cent with no sex differences. The Non-Ashkenazi group had a higher prevalence than the other population groups. The prevalence of CU in parents and siblings was 7.7 per cent and 7.5 per cent respectively. The findings from the family study support the hypothesis of a polygenic mode of inheritance for CU. The prevalence of cleft palate and agenesis of upper lateral incisors in the families studied did not differ from that expected in the general population.