SEARCH · PubMed Health
Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
The oral findings of 12 patients with Moebius syndrome are described. Facial weakness, hypoplastic upper lip, microstomia, mouth-angle drooping, hypoplasia of mandible, gothic palate, tongue weakness, fissured tongue, tongue atrophy and open bite were found. In addition to describing the oral findings, this report discusses some implications for dental treatment of patients with this syndrome.
OBJECTIVE: The correlates of specific childhood feeding problems are described to further examine possible predisposing factors for feeding problems. We report our experience with 349 participants evaluated by an interdisciplinary feeding team. METHODS: A review of records was conducted and each participant was identified as having one or more of five functionally defined feeding problems: food refusal, food selectivity by type, food selectivity by texture, oral motor delays, or dysphagia. The prevalence of predisposing factors for these feeding problems was examined. Predisposing factors included developmental disabilities, gastrointestinal problems, cardiopulmonary problems, neurological problems, renal disease and anatomical anomalies. RESULTS: The frequencies of predisposing factors varied by feeding problem. Differences were found in the prevalence of the five feeding problems among children with three different developmental disabilities: autism, Down syndrome and cerebral palsy. Gastro-oesophageal reflux was the most prevalent condition found among all children in the sample and was the factor most often associated with food refusal. Neurological conditions and anatomical anomalies were highly associated with skill deficits, such as oral motor delays and dysphagia. CONCLUSIONS: Specific medical conditions and developmental disabilities are often associated with certain feeding problems. Information concerning predisposing factors of feeding problems can help providers employ appropriate primary, secondary and tertiary prevention measures to decrease the frequency or severity of some feeding problems.
Explore the source record for details and available documents.
OBJECTIVE: The aim of this study was to investigate cases of difficult intubation in pediatric cardiac surgical patients and to evaluate the importance of associated congenital abnormalities. DESIGN: Retrospective analysis. SETTING: Departments of Anesthesiology and Pediatric Cardiovascular Surgery of a tertiary university hospital. PARTICIPANTS: All children undergoing congenital heart surgery. INTERVENTIONS: Patients who had difficult intubations according to their anesthetic charts were further evaluated from hospital files for demographic characteristics, associated congenital abnormalities, and perioperative airway and/or respiratory complications. MEASUREMENTS AND MAIN RESULTS: A total of 1,278 pediatric patients with congenital heart disease were operated on from January 1999 to July 2002. Difficult intubation was encountered in 16 cases (1.25%). Two of these were newborns, 11 were infants, and 3 were in the pediatric age group. Anterior larynx was the most common reason for difficult intubation (7 cases, 43.7%). There were associated syndromes and/or other congenital abnormalities in 8 children (50%). CONCLUSION: The likelihood of difficult intubation during pediatric cardiac surgery, especially in cases with other congenital pathologies should be kept in mind, and the anesthetic approach must be planned accordingly.
Five cases of cleft palate with interalveolar synechiae have been previously reported. This is the first report of siblings with this condition, and suggests a genetic aetiology. These patients present with an inability to open the mouth adequately. Initial management is directed towards dividing the intraoral adhesions, which may cause significant problems of airway management. Significantly, the intraoral adhesions resolved spontaneously in one of our patients. This, to our knowledge, has not been reported before.
Explore the source record for details and available documents.
In 1944 Kallmann et al described sex-linked inheritance of hypogonadotropic hypogonadism with anosmia and noted the co-occurrence cleft lip, cleft palate and cranio-facial asymmetry. Since then, other clinical cases associated with various skeletal, ophthalmic, urogenital, cardiovascular and central nervous system disorders have been reported. This article presents the case of a 17-year-old girl with a bilateral incomplete facial cleft in association with the Kallmann's syndrome, a previously unreported connection. We describe the plastic surgical reconstruction of the bilateral incomplete facial cleft. The mechanism of this embryopathologic association of the Kallmann's syndrome is, we suggest, due to a developmental disturbance in the region of the median forebrain organizer and associated structures, possibly in connection with a pleiotropic genetic mechanism.
Explore the source record for details and available documents.
Klippel-Trénaunay syndrome was first reported in 1900 by Klippel and Trénaunay. The syndrome is characterized by the triad of vascular nevi, venous varicosity, and hyperplasia of soft tissue-and possibly bone-in the affected area. The original description was made with regard to the extremities. The syndrome is diagnosed on the basis of 2 or 3 symptoms. The 3 patients reported here presented with hemangioma and hypertrophy of the jawbone and concomitant malocclusion. There were clinically no obvious varicose veins. It appears that gravity plays an important role in the venous drainage from the head and neck region, and this could be the reason for the rarity of varicose veins in the head and neck region when compared with lower extremities. In addition, 2 of the 3 cases showed exophytic pedunculated growth arising from the gingiva, which has not been reported in any previous case reports. The following report presents the clinical features in the orofacial region and highlights the clinical significance of this syndrome.
Patients afflicted with congenital/developmental anomalies of the oral/head and neck regions present the prosthodontist with unique esthetic and functional restorative challenges. This article reviews the various pediatric patient categories that would benefit from placement of "vital" overdentures. A long-term follow-up of patients seen over 25 years of practice is presented with a focus on complications such as temporomandibular joint stability, caries, soft tissue and bony support changes, and denture adaptation. Longitudinal follow-up of these patients indicates that, although problems occur with overdenture therapy, the benefits of this treatment far outweigh the complications.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
A case of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with a remarkable number of the classic oral and dental changes is described. This syndrome involves all embryonic tissue layers and is polysymptomatic; yet some oral and dental manifestations are pathognomonic and must be considered in primary diagnostic criteria. However, in some patients, these oral and dental manifestations are not clinically evident leading to misdiagnosis.
p63 is a developmentally regulated transcription factor related to p53, which activates and represses specific genes. The human AEC (Ankyloblepharon-Ectodermal dysplasia-Clefting) and EEC (Ectrodactyly-Ectodermal dysplasia-Cleft lip/palate) syndromes are caused by missense mutations of p63, within the DNA-binding domain (EEC) or in the C-terminal sterile alpha motif domain (AEC). We show here that p63 represses transcription of cell-cycle G(2)/M genes by binding to multiple CCAAT core promoters in immortalized and primary keratinocytes. The CCAAT-activator NF-Y and DeltaNp63alpha are associated in vivo and a conserved alpha-helix of the NF-YC histone fold is required. p63 AEC mutants, but not an EEC mutant, are incapable to bind NF-Y. DeltaNp63alpha, but not the AEC mutants repress CCAAT-dependent transcription of G(2)/M genes. Chromatin immunoprecipitation recruitment assays establish that the AEC mutants are not recruited to G(2)/M promoters, while normally present on 14-3-3sigma, which contains a sequence-specific binding site. Surprisingly, the EEC C306R mutant activates transcription. Upon keratinocytes differentiation, NF-Y and p63 remain bound to G(2)/M promoters, while HDACs are recruited, histones deacetylated, Pol II displaced and transcription repressed. Our data indicate that NF-Y is a molecular target of p63 and that inhibition of growth activating genes upon differentiation is compromised by AEC missense mutations.
There is consistent evidence that the risk of neural tube defects is decreased by periconceptional supplementation with folic acid. A similar protective effect has been postulated for oral clefts. A case-control study was conducted in greater metropolitan Boston; Massachusetts; Philadelphia, Pennsylvania; and southeastern Ontario, Canada, from 1988 through 1991 to test the hypothesis that folic acid supplementation during the periconceptional period reduces the risk of oral clefts. Crude and multivariate-adjusted relative risks were calculated for all oral clefts (n = 303), cleft palate (n = 108), and cleft lip with or without cleft palate (n = 195). Controls (n = 1,167) were liveborn or stillborn infants less than age 6 months who had various congenital anomalies other than oral clefts, neural tube defects, or other "midline defects." Adjusted relative risks and 95 percent confidence intervals for daily folic acid supplementation during the periconceptional period were: oral clefts, 1.1 (95% confidence interval (CI) 0.8-1.7), cleft palate, 0.9 (95% CI 0.5-1.6), and cleft lip with or without cleft palate, 1.3 (95% CI 0.8-2.1). These findings do not support a protective association between the periconceptional use of folic acid supplements and the risk of oral clefts.
Explore the source record for details and available documents.
Macrostomus in the rabbit was diagnosed externally by the presence of papillae at the corners of the mouth. Internally the effect is on the zygomatic complex and is extremely variable. Inheritance appears to be due to a single autosomal recessive gene with incomplete penetrance. We propose the symbol mst for the gene responsible for this condition. Evidence is presented to suggest that this gene is very likely in linkage group IV. Macrostomus in the rabbit is a model for the Treacher Collins syndrome, one form of mandibulofacial dysostosis in humans.
Explore the source record for details and available documents.