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2.
Nutrients ; 13(1)2021 Jan 16.
Article in English | MEDLINE | ID: mdl-33467180

ABSTRACT

Craniofacial development requires extremely fine-tuned developmental coordination of multiple specialized tissues. It has been evidenced that a folate deficiency (vitamin B9), or its synthetic form, folic acid (FA), in maternal diet could trigger multiple craniofacial malformations as oral clefts, tongue, or mandible abnormalities. In this study, a folic acid-deficient (FAD) diet was administered to eight-week-old C57/BL/6J female mouse for 2-16 weeks. The head symmetry, palate and nasal region were studied in 24 control and 260 experimental fetuses. Our results showed a significant reduction in the mean number of fetuses per litter according to maternal weeks on FAD diet (p < 0.01). Fetuses were affected by cleft palate (3.8%) as well as other severe congenital abnormalities, for the first time related to maternal FAD diet, as head asymmetries (4.6%), high arched palate (3.5%), nasal septum malformed (7.3%), nasopharynx duct shape (15%), and cilia and epithelium abnormalities (11.2% and 5.8%). Dysmorphologies of the nasal region were the most frequent, appearing at just four weeks following a maternal FAD diet. This is the first time that nasal region development is experimentally related to this vitamin deficiency. In conclusion, our report offers novel discoveries about the importance of maternal folate intake on midface craniofacial development of the embryos. Moreover, the longer the deficit lasts, the more serious the consequent effects appear to be.


Subject(s)
Craniofacial Abnormalities/etiology , Fetal Diseases/etiology , Folic Acid Deficiency/complications , Maternal Nutritional Physiological Phenomena/physiology , Pregnancy Complications , Pregnancy, Animal , Animals , Craniofacial Abnormalities/embryology , Female , Mice, Inbred C57BL , Nasal Septum/abnormalities , Nasal Septum/embryology , Nasopharynx/abnormalities , Nasopharynx/embryology , Palate/abnormalities , Palate/embryology , Pregnancy
3.
Am J Otolaryngol ; 42(1): 102824, 2021.
Article in English | MEDLINE | ID: mdl-33221635

ABSTRACT

PURPOSE: We hypothesized that the ontogeny of unilateral isolated choanal atresia involves a field defect manifesting as ipsilateral mandibular condylar hypoplasia. The topic is important because the mechanism of the unilateral isolated choanal atresia is unknown. MATERIALS AND METHODS: Retrospective self-controlled case series. We included 20 patients (2 males and 18 females, ages 2 weeks to 13 years) with unilateral isolated non-syndromic choanal atresia. We studied their high-resolution computed tomographic scans. Two otolaryngologists measured the largest cross-sectional area of the mandibular condyle in the axial plane perpendicular to the posterior border of each mandibular ramus independently. Statistical significance and inter-rater agreement were calculated with paired Wilcoxon rank sum test and Spearman's non-parametric correlation coefficient respectively. RESULTS: Cross-sectional areas of the condyles ipsilateral to the choanal atresia were not statistically different than those of the contralateral condyle (P = 0.27). Inter-observer agreement of condyle areas was excellent: Spearman's r = 0.85 on the right and r = 0.94 on the left. CONCLUSIONS: In this cohort of children with the rarity of isolated non-syndromic unilateral congenital choanal atresia, no associated mandibular condyle hypoplasia was found. The data suggest that the underlying ontogeny was unlikely attributable to a field defect.


Subject(s)
Choanal Atresia/diagnostic imaging , Choanal Atresia/etiology , Mandibular Condyle/diagnostic imaging , Adolescent , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Mandibular Condyle/abnormalities , Mandibular Condyle/pathology , Nasal Cavity/abnormalities , Nasal Cavity/diagnostic imaging , Nasopharynx/abnormalities , Nasopharynx/diagnostic imaging , Retrospective Studies , Tomography, X-Ray Computed
4.
Plast Reconstr Surg ; 144(3): 704-709, 2019 09.
Article in English | MEDLINE | ID: mdl-31461034

ABSTRACT

BACKGROUND: Apert syndrome is frequently combined with respiratory insufficiency, because of the midfacial deformity which, in turn, is influenced by the malformation of the skull base. Respiratory impairment resulting from Apert syndrome is caused by multilevel limitations in airway space. Therefore, this study evaluated the segmented nasopharyngeal and laryngopharyngeal anatomy to clarify subcranial anatomy in children with Apert syndrome and its relevance to clinical management. METHODS: Twenty-seven patients (Apert syndrome, n = 10; control, n = 17) were included. All of the computed tomographic scans were obtained from the patients preoperatively, and no patient had confounding disease comorbidity. Computed tomographic scans were analyzed using Surgicase CMF. Craniometric data relating to the midface, airway, and subcranial structures were collected. Statistical significance was determined using t test analysis. RESULTS: Although all of the nasal measurements were consistent with those of the controls, the nasion-to-posterior nasal spine, sphenethmoid-to-posterior nasal spine, sella-to-posterior nasal spine, and basion-to-posterior nasal spine distances were decreased 20 (p < 0.001), 23 (p = 0.001), 29 (p < 0.001), and 22 percent (p < 0.001), respectively. The distance between bilateral gonions and condylions was decreased 17 (p = 0.017) and 18 percent (p = 0.004), respectively. The pharyngeal airway volume was reduced by 40 percent (p = 0.01). CONCLUSION: The airway compromise seen in patients with Apert syndrome is attributable more to the pharyngeal region than to the nasal cavity, with a gradually worsening trend from the anterior to the posterior airway, resulting in a significantly reduced volume in the hypopharynx.


Subject(s)
Acrocephalosyndactylia/pathology , Larynx/abnormalities , Nasopharynx/abnormalities , Child , Child, Preschool , Female , Humans , Infant , Male , Retrospective Studies
5.
Turk J Pediatr ; 60(4): 460-463, 2018.
Article in English | MEDLINE | ID: mdl-30859777

ABSTRACT

Yu Z, Cao Z, Fu H, Wang H. Focusing on the clinical diagnosis and risk of hairy polyp: A report of 7 cases. Turk J Pediatr 2018; 60: 460-463. The hairy polyp is a rare congenital tumor. We introspected 7 cases of hairy polyp that were operated on in our hospital. Microscopically, they all contained only ectoderm and mesoderm tissue and the surface of tumors covered skin and hair regularly. One patient died of a hemorrhage and one girl`s hairy polyp occurred in nose. The result indicates that age, pedicle and thin hair are significant markers for the differential diagnosis of hairy polyp and it is important to closely follow a patient post operatively not only for airway obstruction but also hemorrhage.


Subject(s)
Hair/abnormalities , Nasal Septum/abnormalities , Nasopharynx/abnormalities , Polyps/diagnosis , Child, Preschool , Diagnosis, Differential , Female , Humans , Infant , Infant, Newborn , Male , Polyps/pathology , Polyps/surgery , Postoperative Complications , Retrospective Studies , Risk Factors
6.
Plast Reconstr Surg ; 141(1): 156-168, 2018 01.
Article in English | MEDLINE | ID: mdl-29280877

ABSTRACT

A number of textbooks, review articles, and case reports highlight the potential comorbidity of choanal atresia in craniosynostosis patients. However, the lack of a precise definition of choanal atresia within the current craniosynostosis literature and widely varying methods of detection and diagnosis have produced uncertainty regarding the true coincidence of these conditions. The authors review the anatomy and embryologic basis of the human choanae, provide an overview of choanal atresia, and analyze the available literature that links choanal atresia and craniosynostosis. Review of over 50 case reports that describe patients diagnosed with both conditions reveals inconsistent descriptions of choanal atresia and limited use of definitive diagnostic methodologies. The authors further present preliminary analysis of three-dimensional medical head computed tomographic scans of children diagnosed with craniosynostosis syndromes (e.g., Apert, Pfeiffer, Muenke, and Crouzon) and typically developing children and, although finding no evidence of choanal atresia, report the potentially reduced nasal airway volumes in children diagnosed with Apert and Pfeiffer syndromes. A recent study of the Fgfr2c Crouzon/Pfeiffer syndrome mouse model similarly found a significant reduction in nasal airway volumes in littermates carrying this FGFR2 mutation relative to unaffected littermates, without detection of choanal atresia. The significant correlation between specific craniosynostosis syndromes and reduced nasal airway volume in mouse models for craniosynostosis and human pediatric patients indicates comorbidity of choanal and nasopharyngeal dysmorphologies and craniosynostosis conditions. Genetic, developmental, and epidemiologic sources of these interactions are areas particularly worthy of further research.


Subject(s)
Abnormalities, Multiple , Choanal Atresia , Craniosynostoses , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/embryology , Abnormalities, Multiple/genetics , Animals , Choanal Atresia/diagnosis , Choanal Atresia/embryology , Choanal Atresia/genetics , Craniosynostoses/diagnosis , Craniosynostoses/embryology , Craniosynostoses/genetics , Genetic Markers , Humans , Mice , Mutation , Nasopharynx/abnormalities , Nasopharynx/anatomy & histology , Nasopharynx/embryology , Receptor, Fibroblast Growth Factor, Type 2/genetics , Syndrome
7.
Dental Press J Orthod ; 21(3): 39-45, 2016 Jun.
Article in English | MEDLINE | ID: mdl-27409652

ABSTRACT

OBJECTIVE: Evidence is contradictory regarding the association between oronasopharyngeal abnormalities and malocclusion. The aim of the present study was to assess the association between oronasopharyngeal abnormalities and malocclusion (anterior open bite and posterior crossbite) in preschoolers. METHODS: A cross-sectional study was conducted with a representative sample of 732 preschoolers aged 3-5 years old selected randomly from private and public preschools. Anterior open bite (AOB) and posterior crossbite (PC) were evaluated through a clinical exam. Parents/caregivers answered a questionnaire addressing sociodemographic indicators and oronasopharyngeal issues. Statistical analysis involved descriptive analysis and Poisson regression (p < 0.05). RESULTS: The prevalences of AOB and PC were 21.0% and 11.6%, respectively. Being three years old (PR = 1.244; 95% CI = 1.110-1.394; p < 0.001), being four years old (PR = 1.144; 95% CI = 1.110 - 1.394; p = 0.015), absence of allergy (PR = 1.158; 95% CI = 1.057 - 1.269; p = 0.002), not having undergone nose surgery (PR = 1.152; 95% CI = 1.041 - 1.275; p = 0.006) and having a sore throat more than five times in the same year (PR = 1.118; 95% CI = 1.011 - 1.237; p = 0.030) were significantly associated with AOB. The absence of asthma (PR = 1.082; 95% CI = 1.012 - 1.156; p = 0.020), not having undergone throat surgery (PR = 1.112; 95% CI = 1.068 - 1.158; p < 0.001) and not having undergone nose surgery (PR = 1.114; 95% CI = 1.069 - 1.160; p < 0.001) remained associated with PC. CONCLUSION: Significant associations were found between oronasopharyngeal-reported abnormalities and the presence of AOB and PC in preschoolers.


Subject(s)
Malocclusion/epidemiology , Mouth Abnormalities/epidemiology , Nasopharynx/abnormalities , Brazil/epidemiology , Child, Preschool , Cross-Sectional Studies , Humans , Medical History Taking , Parents , Prevalence , Socioeconomic Factors , Surveys and Questionnaires
8.
Article in English | LILACS | ID: lil-787907

ABSTRACT

Abstract Objective: Evidence is contradictory regarding the association between oronasopharyngeal abnormalities and malocclusion. The aim of the present study was to assess the association between oronasopharyngeal abnormalities and malocclusion (anterior open bite and posterior crossbite) in preschoolers. Methods: A cross-sectional study was conducted with a representative sample of 732 preschoolers aged 3-5 years old selected randomly from private and public preschools. Anterior open bite (AOB) and posterior crossbite (PC) were evaluated through a clinical exam. Parents/caregivers answered a questionnaire addressing sociodemographic indicators and oronasopharyngeal issues. Statistical analysis involved descriptive analysis and Poisson regression (p < 0.05). Results: The prevalences of AOB and PC were 21.0% and 11.6%, respectively. Being three years old (PR = 1.244; 95% CI = 1.110-1.394; p < 0.001), being four years old (PR = 1.144; 95% CI = 1.110 - 1.394; p = 0.015), absence of allergy (PR = 1.158; 95% CI = 1.057 - 1.269; p = 0.002), not having undergone nose surgery (PR = 1.152; 95% CI = 1.041 - 1.275; p = 0.006) and having a sore throat more than five times in the same year (PR = 1.118; 95% CI = 1.011 - 1.237; p = 0.030) were significantly associated with AOB. The absence of asthma (PR = 1.082; 95% CI = 1.012 - 1.156; p = 0.020), not having undergone throat surgery (PR = 1.112; 95% CI = 1.068 - 1.158; p < 0.001) and not having undergone nose surgery (PR = 1.114; 95% CI = 1.069 - 1.160; p < 0.001) remained associated with PC. Conclusion: Significant associations were found between oronasopharyngeal-reported abnormalities and the presence of AOB and PC in preschoolers.


resumo Introdução: não há consenso na literatura quanto à associação entre alterações oronasofaríngeas e as más oclusões. Objetivo: o objetivo do presente estudo foi avaliar a associação entre as alterações oronasofaríngeas e as más oclusões (mordida aberta anterior e mordida cruzada posterior) em pré-escolares. Métodos: um estudo transversal foi conduzido com uma amostra representativa de 732 pré-escolares com 3 a 5 anos de idade, aleatoriamente selecionados em pré-escolas privadas e públicas. A mordida aberta anterior (MAA) e a mordida cruzada posterior (MCP) foram avaliadas a partir de exames clínicos. Pais/cuidadores responderam a um questionário relativo a indicadores sociodemográficos e problemas oronasofaríngeos. A análise estatística envolveu análise descritiva e regressão de Poisson (p < 0,05). Resultados: as prevalências de MAA e MCP foram de 21,0% e 11,6%, respectivamente. Ter três anos de idade (RP = 1,244; IC = 1,110 - 1,394; p < 0,001, considerando-se RP = Razões de Prevalência e IC = Intervalo de Confiança 95%), ter quatro anos de idade (RP = 1,144; IC = 1,110 - 1,394; p = 0,015), ausência de alergia (RP = 1,158; IC = 1,057 - 1,269; p = 0,002), não ter se submetido a cirurgias do nariz (RP = 1,152; IC = 1,041 - 1,275; p = 0,006) e ter tido dor de garganta mais de cinco vezes no mesmo ano (RP = 1,118; IC = 1,011 - 1,237; p = 0,030) foram significativamente associados com MAA. Ausência de asma (RP = 1,082; IC = 1,012 - 1,156; p = 0,020), não ter realizado adenoidectomia (RP = 1,112; IC = 1,068 - 1,158; p < 0,001) e não ter se submetido a cirurgias do nariz (RP = 1,114; IC = 1,069 - 1,160; p < 0,001) permaneceram associados à MCP. Conclusão: associações significativas foram encontradas entre as alterações oronasofaríngeas relatadas e a presença de MAA e MCP em pré-escolares.


Subject(s)
Humans , Child, Preschool , Nasopharynx/abnormalities , Malocclusion/epidemiology , Mouth Abnormalities/epidemiology , Parents , Socioeconomic Factors , Brazil/epidemiology , Prevalence , Cross-Sectional Studies , Surveys and Questionnaires , Medical History Taking
9.
Sleep Breath ; 20(4): 1263-1268, 2016 Dec.
Article in English | MEDLINE | ID: mdl-27215857

ABSTRACT

PURPOSE: The goal of this study was to investigate the agreement between examiners who were or were not trained in the physical examination of the upper airway (UA) and the craniofacial skeleton of individuals with obstructive sleep disorders (OSD). METHOD: A systematic assessment of the UA and craniofacial skeleton was performed on 55 individuals with OSD. The participants were consecutively assessed by three otorhinolaryngologists who specialized in sleep medicine for at least 1 year (trained examiners) and two doctors who were attending a residency program in otorhinolaryngology (untrained examiners). RESULTS: When analyzing all of the parameters assessed, the concordance was better in the trained group (k = 0.694, which is considered "good") compared to the untrained group (k = 0.475, "fair") (p < 0.001). The inter-examiner agreement was also better in the trained compared to the untrained group, as follows: craniofacial (k = 0.643 vs. 0.349), nasal (k = 0.657 vs. 0.614), and pharyngeal (k = 0.729 vs. 0.276) abnormalities (p < 0.05). CONCLUSION: The overall concordance of the physical examination of the UA and craniofacial skeleton was "good" among the trained specialists and "fair" among examiners without appropriate training, despite its subjectivity.


Subject(s)
Craniofacial Abnormalities/complications , Craniofacial Abnormalities/diagnosis , Nasal Obstruction/complications , Nasal Obstruction/diagnosis , Nasopharynx/abnormalities , Observer Variation , Physical Examination/statistics & numerical data , Sleep Apnea, Obstructive/diagnosis , Sleep Apnea, Obstructive/etiology , Adult , Female , Humans , Internship and Residency , Male , Middle Aged , Otolaryngology/education , Prospective Studies , Reproducibility of Results
10.
Otol Neurotol ; 35(6): 1099-101, 2014 Jul.
Article in English | MEDLINE | ID: mdl-24751751

ABSTRACT

Very few eustachian tube anomalies have been published in the literature and have consisted of descriptions of diverticula, hypoplasia/aplasia, fistula, or aberrant associated musculature. We present a girl with a novel anomaly consisting of a eustachian tube duplication that originates in the nasopharynx and exits posterior to a microtic and atretic ear. We review the literature on eustachian tube anomalies and also consider the derivation of this anomaly.


Subject(s)
Ear Canal/abnormalities , Eustachian Tube/abnormalities , Fistula/pathology , Nasopharynx/abnormalities , Ear Canal/diagnostic imaging , Eustachian Tube/diagnostic imaging , Female , Fistula/diagnostic imaging , Fistula/metabolism , Humans , Infant , Nasopharynx/diagnostic imaging , Saliva/metabolism , Tomography, X-Ray Computed
11.
Eur Arch Otorhinolaryngol ; 271(6): 1693-9, 2014 Jun.
Article in English | MEDLINE | ID: mdl-23982669

ABSTRACT

The purpose of this study attempted to analyze the potential risk factors for internal carotid artery injury during simple nasopharyngeal surgeries with or without an endoscopic aid. One hundred and seventy magnetic resonance imaging scans (340 halves) of the brain were retrospectively reviewed and studied. Anatomic variations of carotid arteries were classified, and various distances from the internal carotid arteries to the nasopharyngeal subsites were directly measured on the scans. The mean distances between the internal carotid arteries and nasopharyngeal subsites were significantly shortened in patients with nasopharyngeal internal carotid artery aberrancy, female gender, and lower body weight. The distance to the posterior nasopharyngeal wall was also shortened with age. However, the severity of nasopharyngeal carotid artery variations (kinking and coiling) did not reflect the shortening of mean distances to nasopharyngeal subsites. In conclusion, from multiple linear regression analysis, we found that the risk of an internal carotid artery injury during simple nasopharyngeal surgeries with or without an endoscopic aid is greatest in adult patients with nasopharyngeal carotid artery aberrancy, followed by female gender, lower body weight, and increasing age.


Subject(s)
Anatomic Variation , Carotid Artery Injuries/etiology , Carotid Artery, Internal/anatomy & histology , Nasopharynx/anatomy & histology , Adenoidectomy/adverse effects , Adult , Age Factors , Aged , Aged, 80 and over , Body Weight , Carotid Artery, Internal/abnormalities , Cohort Studies , Eustachian Tube/surgery , Female , Humans , Linear Models , Magnetic Resonance Imaging , Male , Middle Aged , Nasopharynx/abnormalities , Nasopharynx/surgery , Retrospective Studies , Risk Factors , Sex Factors
12.
Cleft Palate Craniofac J ; 51(5): 585-92, 2014 Sep.
Article in English | MEDLINE | ID: mdl-24134453

ABSTRACT

Objective : To study the change in the sagittal depth of the bony nasopharynx in patients with unilateral cleft lip and palate (UCLP), following maxillary protraction using reverse headgear. Methods : Nineteen patients (14 male, five female; aged 9.36 ± 2.89 years) with repaired complete UCLP underwent maxillary protraction with a Delaire type reverse headgear at a tertiary-care referral teaching hospital. Control data were taken from five patients (four male, one female; aged 8.25 ± 2.25 years) who did not receive any orthopedic/orthodontic treatment for a similar duration of time as the treated patients. Average treatment/observation period was 11.71 ± 3.39 months for the treated patients and 12.40 ± 2.60 months for the untreated subjects. Changes in the sagittal bony nasopharynx depth were measured by comparing pretreatment (T1) and posttreatment (T2) lateral cephalograms. Correlations between the changes in the bony nasopharynx depth and in other variables measured in the treated patients were analyzed. An exploratory analysis of differences in the changes from T1 to T2 between the treated patients and untreated subjects was also conducted. Results : The favorable skeletal changes seen in SNA and ANB following maxillary protraction were accompanied by a significant increase in the sagittal depth of bony nasopharynx (1.74 ± 1.10 mm; P < .001). This change was significant when compared with the data from the untreated subjects (P = .004). Correlations between the increase in bony nasopharynx depth and changes in other variables studied in the treated patients were weak and not statistically significant. Conclusion : Sagittal depth of the bony nasopharynx in patients with repaired UCLP increased following maxillary protraction therapy using reverse headgear.


Subject(s)
Cleft Lip/therapy , Cleft Palate/therapy , Extraoral Traction Appliances , Nasopharynx/abnormalities , Nasopharynx/growth & development , Cephalometry , Child , Female , Humans , India , Male , Maxillofacial Development , Nasopharynx/diagnostic imaging , Reproducibility of Results , Treatment Outcome
13.
Int J Pediatr Otorhinolaryngol ; 77(8): 1378-80, 2013 Aug.
Article in English | MEDLINE | ID: mdl-23810447

ABSTRACT

We describe the rare case of a nine year-old girl with a several month history of mouth breathing and nasal obstruction due to a rudimentary tragus in the nasopharynx. We focus on the accessory tragus and its origins by describing the embryologic development of the external ear. Based on our review of the medical literature, this is the first report of a nasopharyngeal mass with a pathologic diagnosis of a rudimentary tragus.


Subject(s)
Branchial Region/abnormalities , Craniofacial Abnormalities/diagnosis , Craniofacial Abnormalities/embryology , Nasopharynx/abnormalities , Pharyngeal Diseases/diagnosis , Pharyngeal Diseases/embryology , Branchial Region/embryology , Branchial Region/surgery , Child , Craniofacial Abnormalities/surgery , Female , Humans , Nasopharynx/embryology , Pharyngeal Diseases/surgery
14.
Int J Pediatr Otorhinolaryngol ; 76(5): 642-5, 2012 May.
Article in English | MEDLINE | ID: mdl-22341630

ABSTRACT

OBJECTIVE: Two cases of first branchial cleft fistula with internal opening on the Eustachian tube are reported and the diagnosis, management and embryological hypothesis are discussed. DESIGN: Retrospective study and review of the literature. RESULTS: Both patients were young boys with first branchial cleft anomaly clearly identified by computed tomography fistulography scan and direct Methylene Blue dye injection. In both cases, surgical removal revealed a fistula with internal opening located on the Eustachian tube near the nasopharynx. DISCUSSION: The main embryological theories and classification are reviewed. A connection between the theories of first branchial apparatus development and the classification by Work might explain the reported clinical association.


Subject(s)
Branchial Region/abnormalities , Cutaneous Fistula/congenital , Eustachian Tube/abnormalities , Nasopharynx/abnormalities , Adolescent , Branchial Region/diagnostic imaging , Branchial Region/surgery , Cutaneous Fistula/surgery , Eustachian Tube/diagnostic imaging , Eustachian Tube/surgery , Humans , Infant , Male , Nasopharynx/diagnostic imaging , Nasopharynx/surgery , Retrospective Studies , Tomography, X-Ray Computed
15.
J Calif Dent Assoc ; 39(5): 327-32, 2011 May.
Article in English | MEDLINE | ID: mdl-21721477

ABSTRACT

This study examines velopharyngeal, speech, and dental parameters as possible diagnostic aids in 22q11.2 deletion syndrome. It is a retrospective study on 56 individuals. Twenty-one percent had a submucous cleft palate and 41 percent required palate surgery for speech. Common dental findings included poor oral hygiene, multiple carious lesions, congenitally missing teeth, class II malocclusion, and open bite.There are common findings that can aid the dental practitioner in recognizingthe syndrome and make appropriate referrals.


Subject(s)
Cleft Palate/etiology , Language Development Disorders/etiology , Velopharyngeal Insufficiency/etiology , Adolescent , Anodontia/etiology , Cephalometry , Child , Child, Preschool , Dental Caries/complications , DiGeorge Syndrome/complications , DiGeorge Syndrome/diagnosis , Female , Humans , Male , Malocclusion, Angle Class II/etiology , Nasopharynx/abnormalities , Open Bite/etiology , Oral Hygiene , Retrospective Studies , Skull Base/abnormalities
16.
Rev Stomatol Chir Maxillofac ; 112(1): 11-5, 2011 Feb.
Article in French | MEDLINE | ID: mdl-21295320

ABSTRACT

INTRODUCTION: Velopharyngeal insufficiency is a frequent sign of the velocardiofacial syndrome (VCFS) but its origins are not well-documented. Our aim was to establish a correlation between this functional disorder and regional morphological anomalies. PATIENTS AND METHODS: Twenty-seven of 36 patients presenting with VCFS could be included retrospectively. We measured cavum depth and velum length on lateral orthodontic X-rays, and assessed the relationship between these two measures. We compared these measures to those of reference populations. Postoperative phonation was assessed with an aerophonoscope. RESULTS: The patients presented with a short velum and a deep cavum. Cranium base and upper cervical spine were malformed in 22 of the 27 patients. Seventeen of the 23 assessed patients (66%) improved their phonation after surgery. DISCUSSION: Our data suggests that velopharyngeal insufficiency in VCFS could be the result of a more global craniospinal growth disorder the functional consequences of which remain unclear. The frequent association of morphological anomalies with mental retardation is probably responsible for the failure to normalize phonation.


Subject(s)
DiGeorge Syndrome/complications , Dysphonia/pathology , Velopharyngeal Insufficiency/etiology , Adolescent , Cephalometry , Cervical Vertebrae/abnormalities , Cervical Vertebrae/diagnostic imaging , Child , Child, Preschool , Chromosome Deletion , Chromosomes, Human, Pair 22 , DiGeorge Syndrome/genetics , DiGeorge Syndrome/pathology , Dysphonia/etiology , Dysphonia/surgery , Humans , Nasopharynx/abnormalities , Nasopharynx/diagnostic imaging , Nasopharynx/surgery , Palate, Soft/abnormalities , Palate, Soft/surgery , Radiography , Reference Values , Retrospective Studies , Skull Base/abnormalities , Skull Base/diagnostic imaging , Velopharyngeal Insufficiency/complications , Velopharyngeal Insufficiency/surgery
17.
J Neurosurg Pediatr ; 6(2): 188-92, 2010 Aug.
Article in English | MEDLINE | ID: mdl-20672942

ABSTRACT

Anatomical variants of the basiocciput are uncommon and usually clinically benign. While the majority remain undetected, these anomalies rarely manifest as CSF rhinorrhea or recurrent meningitis associated with meningocele. Compromise of the leptomeninges provides an avenue of ingress for pathological organisms and can lead to recurrent meningitis, necessitating operative repair of the defect to prevent infection. A review of the literature reveals only 3 cases in which a congenital basioccipital defect has been associated with a meningocele requiring surgical repair. The authors present a case of recurrent meningitis in an infant with a congenital basioccipital meningocele treated with a minimally invasive endoscopic technique. At the 2-year follow-up the repair remained successful, with no evidence of recurrence of the meningocele or CSF infection. The literature regarding the etiology and treatment of these lesions was reviewed, with an emphasis on the safety and efficacy of the endoscopic approach. Note that recurrent meningitis in the setting of a skull base defect may indicate the presence of other congenital anomalies that will necessitate multidisciplinary care for a patient's long-term well-being.


Subject(s)
Endoscopy/methods , Meningitis, Pneumococcal/surgery , Meningocele/surgery , Occipital Bone/abnormalities , Abnormalities, Multiple/diagnosis , Cartilage/transplantation , Child, Preschool , Cranial Fossa, Posterior/abnormalities , Cranial Fossa, Posterior/pathology , Cranial Fossa, Posterior/surgery , Electrocoagulation , Fibrin Tissue Adhesive , Follow-Up Studies , Gelatin Sponge, Absorbable , Humans , Infant , Male , Meningitis, Pneumococcal/diagnosis , Meningocele/diagnosis , Microsurgery , Nasopharynx/abnormalities , Nasopharynx/pathology , Nasopharynx/surgery , Occipital Bone/pathology , Occipital Bone/surgery , Recurrence , Tissue Adhesives , Tomography, X-Ray Computed
18.
Ann Otol Rhinol Laryngol ; 119(5): 336-41, 2010 May.
Article in English | MEDLINE | ID: mdl-20524580

ABSTRACT

OBJECTIVES: Nasopharyngeal branchial cysts (NBCs) are derived from a remnant of the branchial apparatus and originate from the lateral wall of the nasopharynx. Total excision of these cysts was the standard treatment in the past. We present a simpler and less invasive approach for NBC treatment, involving marsupialization, and report on its effectiveness and advantages. METHODS: The surgical approach was transoral. A circular incision 2 to 3 cm in diameter was made directly through the inferior wall of the cyst. After the NBC was drained, its opening was widened with scissors. A disk of oropharyngeal mucosa and the connecting inferior wall of the cyst were excised together. The cut edges of the inner lining of the cyst and the oropharyngeal mucosa were approximated with sutures. RESULTS: All 4 patients were female. One patient was observed because of poor cardiovascular health. The 3 patients who were managed surgically underwent successful transoral cyst marsupialization. The mean follow-up period was 21 months (range, 8 to 40 months). No obvious postoperative complication or recurrence was noted. CONCLUSIONS: Transoral marsupialization is a simple, effective, and less invasive method for treatment of NBCs.


Subject(s)
Branchioma/surgery , Nasopharynx/abnormalities , Adult , Aged , Branchioma/diagnosis , Child, Preschool , Female , Humans , Magnetic Resonance Imaging , Otorhinolaryngologic Surgical Procedures/methods
19.
Int J Pediatr Otorhinolaryngol ; 74(6): 619-25, 2010 Jun.
Article in English | MEDLINE | ID: mdl-20363509

ABSTRACT

PURPOSE: Velo-cardio-facial syndrome (VCFS), the most common genetic syndrome causing cleft palate, is associated with internal carotid and vertebral artery anomalies, as well as upper airway asymmetry. Medially displaced internal carotid arteries, often immediately submucosal, present a risk of vascular injury during pharyngeal flap surgery for velopharyngeal insufficiency (VPI). We evaluate the frequency and spectrum of cervical vascular anomalies in a large cohort of VCFS patients correlating MRA with nasopharyngolaryngoscopy in detecting at risk carotid arteries. Furthermore, we assess the relationship with respect to laterality between cervical vascular patterns and the asymmetric abnormalities of these subjects' upper airways. METHODS: Cervical MRAs of 86 subjects with VCFS and 50 control subjects were independently reviewed by three neuroradiologists. The course of the internal carotid and vertebral arteries was identified within the pharyngeal soft tissues. Medial deviation, level of bifurcation, dominance, anomalous origin, and vessel tortuosity were recorded. Nasopharyngoscopy examinations were available for retrospective review in 43 patients and were assessed for palatal and posterior pharyngeal wall symmetry, true vocal cord motion and size, and for the presence or absence of carotid pulsations. The endoscopic findings were compared with MRA results. RESULTS: Of the 86 subjects, 80 (93%) had one or more vascular anomalies. 42 subjects (49%) were found to have medial deviation of at least one internal carotid artery. In 24 subjects (28%) the anomalous internal carotid artery was directly submucosal; four of these were bilateral (5% of the total sample, 17% of those with a submucosal internal carotid). Other carotid anomalies included low carotid bifurcation (44 subjects or 51%), anomalous origin of the right common carotid (32 cases, or 37%), and two cases of internal carotid agenesis/hypoplasia. Vertebral artery anomalies included vessel tortuosity (34 cases, or 40%), hypoplasia (10 cases, or 12%), looping (4 cases, or 5%), and one case of a double left vertebral artery. Though patients in our study showed an asymmetric distribution of vascular anomalies, no association was found between the laterality of palatal motion, pharyngeal fullness, or laryngeal movement and structure with ipsilateral vertebral or carotid artery anomalies. Of the 33 pulsatile carotid arteries visualized at nasopharyngoscopy, only nine were found to be submucosal on MRA. In contrast, 11 submucosal carotid arteries confirmed at MRA demonstrated no visible pulsations. Positive and negative predictive values of pulsative arteries seen endoscopically for MRA confirmation of a submucosal carotid course was 27% and 79% respectively. CONCLUSIONS: Carotid and vertebral artery anomalies are common in VCFS including marked medial deviation of the internal carotid artery in close proximity to the donor site for pharyngeal flap surgery. Lack of correlation between laterality of vascular anomalies and upper airway structural asymmetry in VCFS does not support the hypothesis that palatal, pharyngeal, and laryngeal anomalies are due to secondary developmental sequences caused by in utero vascular insufficiency. The presence or absence of carotid pulsations seen by nasopharyngoscopy does not correlate with the carotid arterial depth identified on MRA. Furthermore, identification of the relative medial-lateral retropharyngeal position of a submucosal carotid affords the opportunity to modify the surgical approach. These findings further support the routine use of pre-operative neck MRA in VCFS patients in surgical planning.


Subject(s)
Carotid Artery, Internal/abnormalities , Carotid Artery, Internal/diagnostic imaging , DiGeorge Syndrome/physiopathology , Endoscopy/methods , Magnetic Resonance Angiography/instrumentation , Nasopharynx , Vertebral Artery/abnormalities , Vertebral Artery/diagnostic imaging , Adolescent , Child , Child, Preschool , Female , Humans , Male , Nasopharynx/abnormalities , Nasopharynx/diagnostic imaging , Nasopharynx/surgery , Palate, Soft/diagnostic imaging , Palate, Soft/physiopathology , Radiography , Retrospective Studies , Young Adult
20.
Otolaryngol Clin North Am ; 42(2): 339-52, x, 2009 Apr.
Article in English | MEDLINE | ID: mdl-19328897

ABSTRACT

Congenital narrowing of the nasal airway at the posterior choanae, which can be uni- or bilateral, is an uncommon condition in pediatric patients. The surgical management of choanal atresia varies widely in different centers. This article discusses the different surgical strategies including: dilation and stenting; trans-palatal repair; and transnasal resection utilizing endoscopic sinus surgery (ESS) techniques. The merits of stents, lasers, CT-guided surgery, and the use of additional agents including mitomycin C are reviewed, as well as the particular problems associated with managing bilateral choanal atresia in neonates.


Subject(s)
Choanal Atresia/surgery , Nasopharynx/surgery , Child , Child, Preschool , Choanal Atresia/complications , Choanal Atresia/epidemiology , Constriction, Pathologic , Humans , Incidence , Infant , Infant, Newborn , Nasal Obstruction/etiology , Nasal Obstruction/surgery , Nasopharynx/abnormalities , Nasopharynx/pathology , Stents
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