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Fontaine progeroid syndrome (FPS) is an autosomal dominant condition caused by pathogenic variants in the SLC25A24 gene. Eleven cases have been described in the literature, with early lethality in some. We discuss the clinical course of a patient from birth until his death at 7 months.
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Apert syndrome is a rare genetic disorder characterized by craniosynostosis, midface retrusion, and limb anomalies. Cleft palate occurs in a subset of Apert syndrome patients. Although the genetic causes underlying Apert syndrome have been identified, the downstream signaling pathways and cellular mechanisms responsible for cleft palate are still elusive. To find clues for the pathogenic mechanisms of palatal defects in Apert syndrome, we review the clinical characteristics of the palate in cases of Apert syndrome, the palatal phenotypes in mouse models, and the potential signaling mechanisms involved in palatal defects. In Apert syndrome patients, cleft of the soft palate is more frequent than of the hard palate. The length of the hard palate is decreased. Cleft palate is associated most commonly with the S252W variant of FGFR2. In addition to cleft palate, high-arched palate, lateral palatal swelling, or bifid uvula are common in Apert syndrome patients. Mouse models of Apert syndrome display palatal defects, providing valuable tools to understand the underlying mechanisms. The mutations in FGFR2 causing Apert syndrome may change a signaling network in epithelial-mesenchymal interactions during palatogenesis. Understanding the pathogenic mechanisms of palatal defects in Apert syndrome may shed light on potential novel therapeutic solutions.
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Introduction: Children born very preterm have an immature sucking reflex at birth and are exposed to neonatal care that can impede proper palate growth. Objectives: We aimed to describe the frequency of high-arched palate and posterior crossbite at the age of 5 in children born very preterm and to identify their respective risk factors. Methods: Our study was based on the data from EPIPAGE-2, a French national prospective cohort study, and included 2,594 children born between 24- and 31-week gestation. Outcomes were high-arched palate and posterior crossbite. Multivariable models estimated by generalized estimation equations with multiple imputation were used to study the association between the potential risk factors studied and each outcome. Results: Overall, 8% of children born very preterm had a high-arched palate and 15% posterior crossbite. The odds of high-arched palate were increased for children with low gestational age (24-29 vs. 30-31 weeks of gestation) [adjusted odds ratio (aOR) 1.76, 95% confidence interval (CI) 1.17, 2.66], thumb-sucking habits at the age of 2 (aOR 1.53, 95% CI 1.03, 2.28), and cerebral palsy (aOR 2.18, 95% CI 1.28, 3.69). The odds of posterior crossbite were increased for children with pacifier-sucking habits at the age of 2 (aOR 1.75, 95% CI 1.30, 2.36). Conclusions: Among very preterm children, low gestational age and cerebral palsy are the specific risk factors for a high-arched palate. High-arched palate and posterior crossbite share non-nutritive sucking habits as a common risk factor. The oro-facial growth of these children should be monitored.
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BACKGROUND: Distraction osteogenesis maxillary expansion (DOME) is an emerging surgical concept for obstructive sleep apnea patients with a high-arched and narrow hard palate presenting with nasal obstruction. Herein we demonstrate the feasibility of DOME in the treatment of patients with persistent nasal obstruction after primary septoplasty. METHODS: A total of 32 consecutive patients with persistent nasal obstruction after septoplasty who underwent DOME were enrolled in this study. The efficacy of DOME in treating persistent nasal obstruction in septoplasty failure patients was evaluated using the validated Nasal Obstruction Symptom Evaluation (NOSE) scale. Pre- and postoperative computed tomography (CT) scans were performed to measure the change of nasal floor width after surgery. RESULTS: NOSE score improved significantly from 13.62 ± 4.74 to 5.15 ± 3.50 (p < 0.001) after DOME. The postoperative CT scan showed a significant increase of the nasal floor width from 22.4 ± 4.21 to 28.06 ± 4.52 (p < 0.01). No patient had major complications such as wound infection, oronasal fistula, sinusitis, loss of incisor teeth, or malunion. CONCLUSION: We found that DOME appears to improve persistent nasal obstruction after septoplasty in patients with a narrow and high-arched hard palate.
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Obstrucción Nasal , Osteogénesis por Distracción , Rinoplastia , Estudios de Factibilidad , Humanos , Obstrucción Nasal/cirugía , Tabique Nasal/diagnóstico por imagen , Tabique Nasal/cirugía , Técnica de Expansión Palatina , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
The Shprintzen-Goldberg syndrome (SGS) is an autosomal dominant disorder with multiple congenital abnormalities. It is the result of de novo gene mutations. Recently, mutations in the SKI gene are considered to be related to this syndrome. This gene is responsible for the manufacturing of protein which regulates the transforming growth factor beta (TGF-ß) signaling pathway. There are characteristic craniofacial, skeletal, neurological, and connective tissue abnormalities associated with SGS. This is a case report of a 6-year-old male child who reported to the Department of Pediatric Dentistry at the Government Dental College and Hospital, Aurangabad, India, with decayed teeth. He had craniofacial, skeletal, cardiovascular, and other abnormalities suggestive of SGS. The patient had a tall forehead with plagiocephaly and a high-arched palate with hypoplastic teeth. His ears were apparently low-set with posterior rotation. The child had eyes with proptosis, myopia, hypertelorism, and down-slanting palpebral fissures. The child had moderate mental retardation with craniofacial features typical of this syndrome. The Shprintzen-Goldberg syndrome has many similarities with the Marfan syndrome (MFS) or the Loeys-Dietz syndrome (LDS) due to considerable phenotypic overlapping.
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Aracnodactilia , Craneosinostosis , Síndrome de Marfan , Plagiocefalia , Aracnodactilia/diagnóstico , Niño , Craneosinostosis/diagnóstico , Humanos , India , Masculino , Síndrome de Marfan/diagnóstico , Plagiocefalia/diagnósticoRESUMEN
OBJECTIVE: To assess the effect of distraction osteogenesis maxillary expansion (DOME) on objective parameters of the internal nasal valve and correlate findings with subjective outcomes. STUDY DESIGN: Retrospective cohort study. SETTING: Tertiary referral center. SUBJECTS AND METHODS: After Institutional Review Board approval, included subjects were those with obstructive sleep apnea, had undergone DOME from September 2014 to April 2018, and had cone beam computed tomography scans available before and after expansion. Measurement of the internal nasal valve parameters was performed with Invivo6 Software (version 6.0.3). Interrater reliability of all pre- and postexpansion parameters was measured. Patient-reported outcome measures included the Nasal Obstruction and Septoplasty Effectiveness Scale (NOSE) and Epworth Sleepiness Scale scores, and correlation between objective and subjective outcomes were evaluated by Spearman correlation analysis. RESULTS: Thirty-two subjects met inclusion criteria. All showed significant improvement in their subjective outcomes as well as an increase in their internal valve parameters. Significant correlation was observed between increased angles and improvement in postexpansion NOSE score (right angle, P = .024; left angle, P = .029). CONCLUSION: DOME widens the internal nasal valve objectively (dimensions), which correlates significantly with subjective improvement (NOSE scores).
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Nariz/anatomía & histología , Osteogénesis por Distracción , Técnica de Expansión Palatina , Apnea Obstructiva del Sueño/cirugía , Adolescente , Adulto , Anciano , Niño , Estudios de Cohortes , Femenino , Humanos , Masculino , Persona de Mediana Edad , Obstrucción Nasal/complicaciones , Estudios Retrospectivos , Apnea Obstructiva del Sueño/complicaciones , Adulto JovenRESUMEN
A narrow maxilla with high arched palate characterizes a phenotype of obstructive sleep apnea (OSA) patients that is associated with increased nasal resistance and posterior tongue displacement. Current maxillary expansion techniques for adults are designed to correct dentofacial deformity. We describe distraction osteogenesis maxillary expansion (DOME) tailored to adult patients with OSA with narrow nasal floor and high arched palate without soft tissue redundancy. DOME is performed with placement of maxillary expanders secured by mini-implants along the midpalatal suture. This minimizes the maxillary osteotomies necessary to re-create sutural separation for reliable expansion at the nasal floor and palatal vault. We report the safety and efficacy profile of the first 20 patients at Stanford who underwent DOME.
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Osteogénesis por Distracción/métodos , Técnica de Expansión Palatina/instrumentación , Hueso Paladar/cirugía , Apnea Obstructiva del Sueño/terapia , Adulto , Femenino , Humanos , Masculino , Osteogénesis por Distracción/instrumentaciónRESUMEN
BACKGROUND: Acquired palatal groove has been reported in the 1970s and 1980s, but its current incidence in Japanese newborns is unclear. The aims of this study were to determine the incidence of palatal groove in preterm infants and to evaluate whether this condition affects oral feeding ability. METHODS: We conducted a prospective observational study among very low-birthweight infants born at Takatsuki General Hospital, Osaka, between March and October in 2010. The shape of the hard palate was classified into three types: normal, narrow high-arched palate, and palatal groove. RESULTS: Among the 37 enrolled infants, 14 (38%) had palatal groove. In particular, among the 29 infants with birthweight <1000 g, palatal groove was observed in 48% of these patients, and only 10% were normal. Infants with palatal groove were ventilated for considerably more days with oral endotracheal tube than those without palate groove, even after adjustment for gestational age, birthweight, and duration of oral duodenal tube placement (OR, 1.11). Establishment of oral feeding and disappearance of choking on milk were considerably delayed in infants with palatal groove. Transient oral feeding difficulty requiring thickened-feed intervention was observed only in infants with palatal groove; on multi-regression analysis this difficulty seemed to be induced by the palatal groove. CONCLUSIONS: Palatal groove formation induced by oral endotracheal intubation occurs with a high frequency in preterm infants, and this is likely to affect oral feeding ability.
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Fenómenos Fisiológicos Nutricionales del Lactante , Enfermedades del Prematuro/fisiopatología , Intubación Intratraqueal/efectos adversos , Enfermedades Maxilomandibulares/fisiopatología , Enfermedades de la Boca/fisiopatología , Paladar Duro/patología , Nutrición Enteral/estadística & datos numéricos , Humanos , Incidencia , Recién Nacido , Recien Nacido Prematuro , Enfermedades del Prematuro/epidemiología , Enfermedades del Prematuro/etiología , Enfermedades del Prematuro/terapia , Recién Nacido de muy Bajo Peso , Japón/epidemiología , Enfermedades Maxilomandibulares/epidemiología , Enfermedades Maxilomandibulares/etiología , Enfermedades Maxilomandibulares/terapia , Enfermedades de la Boca/epidemiología , Enfermedades de la Boca/etiología , Enfermedades de la Boca/terapia , Paladar Duro/fisiopatología , Estudios ProspectivosRESUMEN
PURPOSE: The purpose of this impression technique is to overcome the problem associated with restricted mouth opening in association with high arched palate by employing pneumatic impression technique using latex balloon. METHODS: A stock tray was modified with auto polymerizing acrylic resin. On the modified tray, a latex balloon was attached with aid of cyanoacrylate. The outlet of the balloon was then connected to a clinical sphygmomanometer bulb with the rubber pipe for air passage which would aid in inflating the balloon. The prepared tray assembly was then equipped for recording the impression. An adequate amount of addition polysiloxane impression material, sufficient to cover the entire area of the balloon was loaded onto the tray. The balloon was then inflated with the help of a sphygmomanometer bulb which transferred the air only in one direction. On completion of setting time of the impression material, the air pressure was relieved by deflating of balloon which helped in the easy removal of the impression. The impression was subsequently removed from the oral cavity and disinfected. CONCLUSION: This novel technique was helpful for recording impression in patients presenting with restricted mouth opening and high arched palate.
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The palate functions as the roof of the mouth in mammals, separating the oral and nasal cavities. Its complex embryonic development and assembly poses unique susceptibilities to intrinsic and extrinsic disruptions. Such disruptions may cause failure of the developing palatal shelves to fuse along the midline resulting in a cleft. In other cases the palate may fuse at an arch, resulting in a vaulted oral cavity, termed high-arched palate. There are many models available for studying the pathogenesis of cleft palate but a relative paucity for high-arched palate. One condition exhibiting either cleft palate or high-arched palate is Treacher Collins syndrome, a congenital disorder characterized by numerous craniofacial anomalies. We quantitatively analyzed palatal perturbations in the Tcof1(+/-) mouse model of Treacher Collins syndrome, which phenocopies the condition in humans. We discovered that 46% of Tcof1(+/-) mutant embryos and new born pups exhibit either soft clefts or full clefts. In addition, 17% of Tcof1(+/-) mutants were found to exhibit high-arched palate, defined as two sigma above the corresponding wild-type population mean for height and angular based arch measurements. Furthermore, palatal shelf length and shelf width were decreased in all Tcof1(+/-) mutant embryos and pups compared to controls. Interestingly, these phenotypes were subsequently ameliorated through genetic inhibition of p53. The results of our study therefore provide a simple, reproducible and quantitative method for investigating models of high-arched palate.
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Desarrollo Maxilofacial/fisiología , Proteínas Nucleares/genética , Hueso Paladar/anomalías , Fosfoproteínas/genética , Animales , Fisura del Paladar/diagnóstico por imagen , Fisura del Paladar/embriología , Fisura del Paladar/genética , Cruzamientos Genéticos , Modelos Animales de Enfermedad , Femenino , Técnicas de Inactivación de Genes , Genes p53 , Heterocigoto , Humanos , Imagenología Tridimensional , Péptidos y Proteínas de Señalización Intracelular , Masculino , Disostosis Mandibulofacial/diagnóstico por imagen , Disostosis Mandibulofacial/embriología , Disostosis Mandibulofacial/genética , Desarrollo Maxilofacial/genética , Ratones , Ratones Endogámicos C57BL , Ratones Endogámicos DBA , Microscopía Confocal , Proteínas Nucleares/fisiología , Hueso Paladar/diagnóstico por imagen , Hueso Paladar/embriología , Fenotipo , Fosfoproteínas/fisiología , Especificidad de la EspecieRESUMEN
Congenital hepatic fibrosis is part of many different malformation syndromes, of which oculo-encephalo-hepato-renal syndrome is the most common. These syndromes largely overlap, and so accurate classification of individual patients may be difficult. We present herein three syndromic siblings who were products of a consanguineous marriage. We investigated in detail at least six organ systems in these patients, namely the liver, brain, eye, kidneys, skeleton, and gonads. The common features observed in these three cases were congenital hepatic fibrosis, retinitis pigmentosa, truncal obesity, rotatory nystagmus, mental retardation, advanced myopia, and high-arched palate. The clinical dysmorphology in these patients was distinct and lacked the major features of the known syndromes associated with congenital hepatic fibrosis. Although some features of these presented cases are similar to those found in Bardet-Biedl syndrome (BBS), the absence of some major criteria of BBS (polydactyly, renal abnormality, and hypogonadism) suggests that this may be a new syndrome. All three patients remain under follow-up in the departments of Gastroenterology, Ophthalmology, and Neurology at Hacettepe University.