The teratogenic risk of antiepileptic drugs.
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Abnormalities, Drug-Induced↗
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Results for “MOUTH ABNORMALITIES”
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Van Der Woude syndrome: variable penetrance of a novel mutation (p.Arg 84Gly) of the IRF6 gene in a Turkish family.
Van der Woude syndrome (VWS) is an autosomal dominant disorder characterized by clefts of the lip and/or palate (CL+/-P), lip pits, bifid uvula and hypodontia. Mutations of the interferon regulatory factor 6 gene (IRF6) have been recently described in patients with VWS. The entire 9 exons of the IRF6 gene in two brothers of Turkish origin clinically diagnosed with Van der Woude syndrome and four healthy family members were screened for mutations using a newly established denaturing gradient gel electrophoresis (DGGE) method. A novel heterozygous mutation in exon 2 (DNA binding region) of the IRF6 gene, p.Arg84Gly, was found in both brothers with VWS and in their clinically asymptomatic mother. Our results suggest a dominant negative effect of the p.Arg84Gly mutation in the VWS of both patients. Non-penetrance of this mutation is suggested in the mother of the patients.
5' Untranslated Regions↗
Focal dermal hypoplasia -- oral and dental findings.
This report describes the case of an 8-year-old girl with focal dermal hypoplasia. As well as deformities affecting her hands and feet she had marked facial asymmetry, one diminutive eye and coloboma affecting the other. Intraorally, the patient had papillomas at the base of the tongue and tonsils. Her teeth showed irregular spacing, hypodontia, enamel hypoplasia, anomalous tooth form and delayed development. Radiographically, several teeth showed abnormal form. The patient's previous surgical experiences had adversely affected her behaviour and treatment has been limited to patient motivation and oral hygiene instructions, acclimatization, and simple restorative care.
Anodontia↗
Long-term evaluation of orofacial function in children with Down syndrome after treatment with a stimulating plate according to Castillo Morales.
The aim of this investigation was to evaluate the long-term orofacial development of Down children who received plate therapy according to Castillo Morales in their early childhood. The orofacial development of 27 Down children was documented before and after plate therapy and at a follow-up examination 13 years +/- 6 months after initiation of therapy. The orofacial appearance significantly improved during therapy (p = 0.00). During the follow-up, mouth posture remained stable (p = 0.259), whereas tongue position further improved (p = 0.034). A better long-term development was documented in children with initial severe orofacial dysfunctions.
Adolescent↗
Oral manifestations in Ellis-van Creveld syndrome: report of five cases.
Ellis-van Creveld syndrome, or chondroectodermal dysplasia, is an autosomal recessive disorder with characteristic clinical manifestations. Its incidence in the general population is low. The oral manifestations of Ellis-van Creveld are found in soft tissues and teeth, but the dental literature on the subject is scarce. In the last 20 years, 5 cases of Ellis-van Creveld syndrome have been followed at the Pediatric Dentistry Service of the Hospital Sant Joan de Déu, Barcelona. The present study describes the constant and variable oral findings in these patients, which play an important role in the diagnosis criteria for the syndrome. The presence of a great variety of oral manifestations such as fusion of the upper lip to the gingival margin, presence of multiple frenula, abnormally shaped and microdontic teeth, and congenitally missing teeth requires multidisciplinary dental treatment, with consideration for the high incidence of cardiac defects in these patients.
Anodontia↗
Dental and oral abnormalities in selected ectodermal dysplasia syndromes.
Only a brief review of the dental and oral abnormalities in a few ectodermal dysplasia syndromes has been presented. Obviously, careful evaluation of the dentitions of patients suspected to have these disorders will add to our knowledge and assist in diagnosis of this heterogeneous group of genetic diseases.
Dental Enamel Hypoplasia↗
Intestinal nodular lymphoid hyperplasia, hypogammaglobulinemia, and hematologic abnormalities in a child with a ring 18 chromosome.
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Adult↗
Psychological problems of the physically handicapped patient.
There is increasing concern about the difficulty encountered by handicapped patients in obtaining adequate dental health care. In addition to the problems of availability and accessibility of dental care there are social and psychological problems affecting the acceptability of dental health care. To overcome these difficulties the dentist must understand the bases of his own perceptions as well as those of his patients which interact in the dentist-patient treatment situation. Although many of the physical problems can be solved by such measures as wheel chair ramps, the major difficulty is the social acceptability of the handicapped. The same degree of handicap may cause different problems depending on the way in which the individual adjusts to it. Orofacial defects cause particular difficulties because they cannot be hidden in the same way as, for example, a missing or deformed limb. Often the relatively minor defects encountered in dental practice may cause greater problems than a more major deformity, since the near normal person strives harder to be considered as normal. Studies of babies' responses to normal and abnormal facial appearances have demonstrated the tremendous importance of the facial area in communication. Smiling responses were common with a normal face whereas grotesque faces induced anxiety in children. In later life facial abnormalities tend to evoke both aesthetic and sexual aversion so interfering with the process of social interaction. The dentist must become more aware of the psychological state of physically handicapped patients and of his own reaction to them.
Adaptation, Psychological↗
Value of physical signs in the diagnosis of enlarged adenoids.
In a series of children due to have surgery on their upper respiratory tracts an assessment of mouth breathing, abnormality on anterior rhinoscopy and size of the adenoid on posterior rhinoscopy was made by 3 observers. All these signs showed poor reproducibility between observers and the size of the adenoid assessed by posterior rhinoscopy showed no significant relationship to the weight of the adenoid subsequently removed.
Adenoids↗
Orofacial exercises for babies with breastfeeding problems?
Young babies occasionally have aberrant orofacial movements that may appear to be the cause of their breastfeeding difficulties. There has been a trend to treat this by introducing corrective exercises for the affected muscle(s). Such treatments have had their bases in therapeutic measures that were originally designed for severely neurologically impaired babies. In fact, most babies with breastfeeding problems are neurologically intact, with many needing only minimal but specific interventions predominantly involving the gape response, attachment and positioning. If the baby's gape response is poor, a minimal amount of breast tissue is taken into the baby's mouth, and abnormal orofacial movements during breastfeeds are the automatic result. This paper re-examines the use of orofacial exercises--often called "suck training"--for babies with breastfeeding problems. There can be negative results from using specific orofacial exercises in an arbitrary or generalised manner. Precautions and guidelines for appropriate corrective measures are discussed.
Breast Feeding↗
The oro-facial manifestations of trisomy 8 mosaicism: a case report.
Trisomy 8 mosaicism is a relatively common autosomal chromosomal disorder characterized by features such as mental retardation, characteristic facies, skeletal abnormalities and congenital heart disease. The case of a 4-year-old boy is described with particular reference to the oro-facial manifestations, which included cleft palate, pronounced anterior open bite, complete reserved unilateral buccal cross-bite, slightly increased width of alveolar processes, and gingival enlargement.
Child, Preschool↗
The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC).
Ehlers-Danlos syndrome (EDS) dermatosparaxis type (type VIIC) and the related disease of cattle dermatosparaxis, are recessively inherited connective tissue disorders, caused by a deficient activity of procollagen I N-proteinase, the enzyme that excises the N-terminal propeptide in procollagen type I, type II, and type III. Although well documented in cattle, to date only seven human cases have been recorded, most of them aged under 2 years. We document the natural history of three patients with EDS dermatosparaxis type, two of whom have been reported before the age of 2 years, and one new patient. The phenotype of the patients, and especially the facial resemblance, is striking, making this a clinically recognizable condition. The most consistent anomalies during the first years of life are premature rupture of the membranes, extreme skin fragility and easy bruising, large fontanels, blue sclerae, puffy eyelids, micrognathia, umbilical hernia, and short fingers. Joint hypermobility becomes more important with age. The children are at risk for rupture of internal organs due to soft tissue fragility, as is illustrated by different internal events in two of the three patients described here. Orofacial features include micrognathia, a frontal open bite, and gingival hyperplasia with varying degrees of hyperkeratosis. The deciduous dentition shows abnormal morphology of the molars, obliteration of the tooth pulp, and severe enamel attrition. The permanent dentition shows agenesis and microdontia of several teeth. Tooth discoloration, dysplastic roots, and tooth pulp obliteration are present in a restricted number of permanent teeth.
Child↗
Airway management of a patient with Weill-Marchesani syndrome.
Weill-Marchesani syndrome is a genetically determined rare systemic connective tissue disorder consisting of brachymorphy, brachydactyly, aortic stenosis, and ophthalmologic abnormalities, such as ectopia lentis, microspherophakia, and secondary glaucoma. The primary lesion is fibrous tissue hyperplasia. Airway control and intubation may be difficult in patients with WMS because of stiff joints, poorly aligned teeth, and maxillary hypoplasia with a narrow palate. We describe the successful airway management of a patient with WMS and laryngeal stenosis, using an intubating laryngeal mask following failed conventional laryngoscopic intubation.
Adult↗
Perspectives on growth factors and orofacial development.
Despite the fact that orofacial clefts represent one of the most common birth defects, the molecular mechanisms by which the embryonic primordia of the midface grow and differentiate are not completely understood. A multiplicity of genes must be expressed and their protein products must interact in a highly orchestrated fashion to affect normal orofacial development. Several families of growth factors have emerged as key contributors to the choreography of cellular and tissue interactions contributing to morphogenesis of the orofacial region. This overview focuses on those growth factors that are generally accepted as playing a pivotal role in normal as well as abnormal development of first branchial arch-derived structures. Particular emphasis is given transforming growth factor-beta (TGF beta) and TGF alpha family members, as these have been the most extensively investigated with regard to their role in development of orofacial structures. Consideration is also given to evidence implicating developmental contributions from members of the bone morphogenetic protein and fibroblast growth factor families.
Animals↗
Effects of levamisole on normal and abnormal leukocyte locomotion.
The anti-helminthic drug levamisole hydrochloride has been reported to stimulate immune responses in humans and experimental animals. We have investigated levamisole effects on human leukocyte locomotion in vitro in studies of neutrophils and mononuclear cells from normal adults, from patients with Chediak-Higashi disease and from patients with the syndrome of hyperimmunoglobulin E, recurrent pyogenic infections, and defective leukocyte chemotaxis. Directed migration (chemotaxis) of neutrophils and mononuclear cells from normal adults and from the hyperimmunoglobulin E syndrome patients, but not from Chediak-Higashi patients, were stimulated by levamisole at concentrations of 0.01-1.0 micronM, with stimulation observed most consistently at 0.1 micronM. These concentrations of drug also increased cyclic GMP levels in mononuclear cells and enhanced hexose monophosphate shunt activity in neutrophils, but did not alter chemotactic factor-induced changes in the surface charge of neutrophils. Other concentrations of levamisole did not affect leukocyte locomotion except for a high concentration (5.0 mM) which stimulated both random and directed leukocyte migration. When patients with the hyperimmunoglobulin E syndrome took levamisole by mouth, the abnormal chemotactic responses of their neutrophils were significantly improved towards normal. These studies are the first to show pharmacologic improvement of in vitro leukocyte locomotion in patients in whom recurrent infections have been attributed to a defect of this leukocyte function.
Adolescent↗
Cockayne's syndrome: a case report. Literature review.
Cockayne s syndrome is a genetic disorder with a recessive autosomal inheritance, described first by Cockayne in 1936. Patients with this syndrome present failure to thrive, short stature, premature aging, neurological alterations, photosensitivity, delayed eruption of the primary teeth, congenitally absent of some permanent teeth, partial macrodontia, atrophy of the alveolar process and caries. It could be caused by two gene mutations, CNK1 (ERCC8) and ERCC6, located on the 5 and 10 chromosomes respectively, causing two variations of Cockayne s syndrome, CS-A, secondary to a ERCC8 mutation and CS-B with ERCC6 mutation, the last one causes hypersensitivity to the ultraviolet light secondary to a DNA repair defect. The syndrome is also associated with mutations of the XPB, XPD and XPG genes. In this report we present a 9 year and 4 month old patient. He had a height of 94 cm, weight of 8.6 Kg, head circumference of 42 cm. and blood pressure of 120/80. Cachectic habitus, kyphosis, microcephaly, oval face, sunken eyes, a thin and beaklike nose, lack of subcutaneous facial fat (especially in the middle of the face), and large ears give the patient a birdlike appearance. It is notorious the photosensitivity in all the sun-exposed skin. The patient also displays delayed psychomotor skills and mental retardation. In the oral cavity we found deficient hygiene, gingivitis, cervical caries, enamel hipoplasia, abnormal position of the upper and inferior lateral incisors, macrodontia of the upper central teeth, the left one presented a caries. In the x-ray we observed congenital absence of 14, 23 and 24 teeth and mandibular hipoplasia. The aim of this review is to show the dentistry community the characteristics of the Cockayne s syndrome by means of a clinical case.
Child↗
[A rare cause of difficult intratracheal intubation: Langenbeck's disease].
A case of difficult tracheal intubation due to insufficient mouth opening once anaesthesia had been induced is described. At the pre-anaesthetic visit, the 47-year-old female patient had painless restricted mouth opening (two fingers' breadth), dental malpositions, and slight lateral mandibular deviation. Cervical spine movements were normal. She was ranked 3 on the Mallampati scale. The anaesthetic technique preserved spontaneous breathing (induction with propofol 1.5 mg.kg-1 and alfentanil 15 micrograms.kg-1). Manual ventilation was impossible. An oral cannula could not be inserted. As intubation by the normal route was impossible, the retromolar approach had to be used. Several attempts were required for successful intubation by this route. At the end of surgery, the patient was extubated without any difficulties. Postoperative investigations revealed hypertrophic coronoid processes. In this condition, the mandible is jammed by hitting the maxilla, especially when mandibular lifting manoeuvres are used to facilitate manual ventilation and tracheal intubation. Clinical and paraclinical predictors of difficult tracheal intubation seem to be unreliable in such dynamic abnormalities of mouth opening.
Female↗
Down's syndrome and oral care.
Down's syndrome is caused by a chromosomal abnormality and is characterized by certain physical, mental and medical features. A number of these features, such as learning disability, cardiac anomalies and an altered immune system, can have a profound effect on oral health and the delivery of oral care. In turn, this can affect social acceptability and quality of life. The optimum potential of the person with Down's syndrome is achieved via a multidisciplinary approach that involves the members of the dental team from an early stage.
Dental Care for Persons with Disabilities↗