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OBJECTIVE: To describe the spectrum of disease and burden of care in infants with congenital micrognathia from a multicenter cohort hospitalized at tertiary care centers. STUDY DESIGN: The Children's Hospitals Neonatal Database was queried from 2010 through 2020 for infants diagnosed with micrognathia. Demographics, presence of genetic syndromes, and cleft status were summarized. Outcomes included death, length of hospitalization, neonatal surgery, and feeding and respiratory support at discharge. RESULTS: Analysis included 3,236 infants with congenital micrognathia. Cleft palate was identified in 1266 (39.1%). A genetic syndrome associated with micrognathia was diagnosed during the neonatal hospitalization in 256 (7.9%). Median (IQR) length of hospitalization was 35 (16, 63) days. Death during the hospitalization (n = 228, 6.8%) was associated with absence of cleft palate (4.4%, P < .001) and maternal Black race (11.6%, P < .001). During the neonatal hospitalization, 1289 (39.7%) underwent surgery to correct airway obstruction and 1059 (32.7%) underwent gastrostomy tube placement. At the time of discharge, 1035 (40.3%) were exclusively feeding orally. There was significant variability between centers related to length of stay and presence of a feeding tube at discharge (P < .001 for both). CONCLUSIONS: Infants hospitalized with congenital micrognathia have a significant burden of disease, commonly receive surgical intervention, and most often require tube feedings at hospital discharge. We identified disparities based on race and among centers. Development of evidence-based guidelines could improve neonatal care.

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Pigmentary abnormalities in Coffin-Siris Syndrome should be considered as part of the wide phenotypical spectrum of this patients.

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ABSTRACT: Severe congenital mandibular hypoplasia may cause significant upper airway obstruction, often necessitating immediate tracheostomy. Recent surgical advances have demonstrated early intervention with mandibular distraction osteogenesis over tracheostomy may yield desirable aesthetic and functional outcomes. Here we present a case of bilateral mandibular hypoplasia, severe on the right and mild on the left, secondary to Goldenhar syndrome yielding significant tongue-based upper airway obstruction that was surgically corrected with mandibular bone allograft reconstruction of the right condyle, ramus, and posterior half of the mandibular body. Postoperative polysomnography revealed significantly improved obstructive apnea and computed tomography demonstrated adequate placement of the bone allograft to overcorrect the affected hemi-mandible. To the authors' knowledge, this is the first report of immediate mandibular allografting alleviating tongue-based upper airway obstruction secondary to mandibular hypoplasia in an infant. Mandibular bone allografting may be a favorable alternative to immediate tracheostomy with delayed surgical intervention, though long-term follow up is needed to assess graft durability and maintenance of airway patency.

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PURPOSE: This study aimed to describe the phenotypic and molecular characteristics of ARCN1-related syndrome. METHODS: Patients with ARCN1 variants were identified, and clinician researchers were connected using GeneMatcher and physician referrals. Clinical histories were collected from each patient. RESULTS: In total, we identified 14 cases of ARCN1-related syndrome, (9 pediatrics, and 5 fetal cases from 3 families). The clinical features these newly identified cases were compared to 6 previously reported cases for a total of 20 cases. Intrauterine growth restriction, micrognathia, and short stature were present in all patients. Other common features included prematurity (11/15, 73.3%), developmental delay (10/14, 71.4%), genitourinary malformations in males (6/8, 75%), and microcephaly (12/15, 80%). Novel features of ARCN1-related syndrome included transient liver dysfunction and specific glycosylation abnormalities during illness, giant cell hepatitis, hepatoblastoma, cataracts, and lethal skeletal manifestations. Developmental delay was seen in 73% of patients, but only 3 patients had intellectual disability, which is less common than previously reported. CONCLUSION: ARCN1-related syndrome presents with a wide clinical spectrum ranging from a severe embryonic lethal syndrome to a mild syndrome with intrauterine growth restriction, micrognathia, and short stature without intellectual disability. Patients with ARCN1-related syndrome should be monitored for liver dysfunction during illness, cataracts, and hepatoblastoma. Additional research to further define the phenotypic spectrum and possible genotype-phenotype correlations are required.

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Purpose: Fetal alcohol syndrome (FAS) results from the teratogenic effects of alcohol on the fetus. Oral manifestations are commonly found in FAS and contribute to the diagnosis. The purpose of this study was to provide a review of the literature and describe two cases of FAS.
Methods: Electronic searches were conducted in August 2021 in multiple databases. The cases of two children with FAS are reported.
Results: One hundred sixty-six articles were included. The oral features frequently reported were micrognathia, cleft palate, high arched palate, maxillary hypoplasia, prognathia and crowding. The first patient had systemic and orofacial changes, such as delayed physical and cognitive development, micrognathia, tooth impaction, malocclusion and enamel hypoplasia. The second child had cognitive, and speech and behavioral deficits, but no oral and dental abnormalities.
Conclusion: Dentists should be aware of clinical findings since they may take part in the diagnosis and management of FAS.

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Introdução: Defeitos congênitos são alterações estruturais ou funcionais que acontecem durante a vida intrauterina. O cirurgião-dentista deve reconhecer os defeitos craniofaciais para complementar a caracterização fenotípica e manejá-los junto a uma equipe multiprofissional. A presente revisão tem como objetivo auxiliar o cirurgião-dentista para o diagnóstico desses achados e apresentar quadros sindrômicos tipicamente associados a malformações craniofaciais. Revisão de Literatura: Manifestações craniofaciais de defeitos congênitos são condições que devem ser reconhecidas pelos cirurgiões--dentistas, pois frequentemente estão presentes em sua prática diária, podendo ser este profissional o primeiro a identificar tais achados. Os principais quadros sindrômicos tipicamente associados a micrognatia, fendas orais e displasias esqueléticas com manifestação craniofacial são apresentados, assinalando suas características clínicas e genéticas. Discussão: O cirurgião-dentista deve realizar uma anamnese detalhada incluindo a história familiar, bem como reconhecer as dismorfias tanto clínica quanto radiograficamente, observando o paciente de forma sistêmica. Conclusão: Os profissionais da odontologia devem receber treinamento teórico-prático para o diagnóstico, tratamento e vigilância de indivíduos com defeitos congênitos, seja na avaliação individual ou como parte de uma equipe multiprofissional.

Introduction: Birth defects are structural or functional changes that occur during intrauterine life. The dentist must recognize the craniofacial defects, complement the phenotypic characterization and manage them within a multidisciplinary team. The present review aims to assist the dentist to diagnose these findings and present syndromic conditions typically associated with cranio-facial malformations. Literature Review: Craniofacial manifestations of birth defects are conditions that must be recognized by dentists, as they are frequently present in their daily practices, and this professional may be the first to identify such findings. The main syndromic clinical pictures typically associated with micrognathia, oral clefts and skeletal dysplasias with craniofacial man-ifestation are presented, pointing out their clinical and genetic features. Discussion: The dentist must perform a detailed anamnesis including family history, as well as should recognize both clinical and radiographically the dysmorphisms, observing the patient systemically. Conclusion: Dentistry professionals should receive the-oretical-practical training for the diagnosis, treatment and surveillance of individuals with congenital defects, either in individual assessment or as part of a multipro-fessional team.

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Introducción: Las anomalías de crecimiento y desarrollo transversal del maxilar constituyen un diagnóstico frecuente en pacientes con maloclusiones. Objetivo: Describir el diámetro transversal del maxilar en pacientes con maloclusiones del Policlínico Mario Escalona, 2019. Material y método: Estudio descriptivo transversal. El universo estuvo formado por todos los pacientes (69), de 12 a 25 años con maloclusiones ingresados en el Servicio de Ortodoncia del policlínico Mario Escalona desde abril de 2018 a febrero de 2019. Se determinó el índice de Bogue y de Mayoral. Los resultados se presentaron en tablas. Resultados: Se encontró el diámetro de Bogue disminuido en el 65,0 por ciento de los pacientes donde se determinó. Todas las medidas de Mayoral analizadas presentaron como promedio valores por debajo de la norma en cada etapa de crecimiento y desarrollo; exceptuando las medidas de 4 a 4 en el Prepúber. En ambos sexos el índice de Mayoral en sus tres niveles o referencias se encontró como promedio por debajo de la norma. En el sexo femenino se detectaron las medias menores (33,7mm, 38,3mm, 44,4mm) respecto al masculino. Se diagnosticó Micrognatismo transversal en el 75,36 por ciento de los pacientes; 80,49 por ciento en las hembras y 67,86 por ciento en varones. Conclusiones: Se encontró una alta frecuencia de micrognatismo transversal. Se detectó discrepancias ligeras del índice de Mayoral según la clasificación sindrómica y la etapa de crecimiento y desarrollo, mientras que en cuanto al sexo se identificaron diferencias de consideración(AU)

Introduction: Growth anomalies and maxillary transverse diameter are frequent diagnoses in patients with malocclusions. Objective: To describe the maxillary transverse diameter in patients with malocclusions treated at Mario Escalona Polyclinic in 2019. Material and method: A cross-sectional descriptive study was conducted. The universe consisted of 69 patients aged 12-25 years who presented malocclusions and were admitted to the Orthodontics Service of Mario Escalona polyclinic from April 2018 to February 2019. Bogue´s index and the index of Mayoral were determined. The results were presented in tables. Results: The transverse diameter of Bogue decreased in 65.0 percent of the patients in whom it was determined. All measures established by Mayoral presented ​​lower average values than the norm at each stage of growth and development; except for measures 4/4 in pre-pubertal patients. In both sexes, the index of Mayoral in its three levels or references was found as an average value below the norm. Lower averages (33.7mm, 38.3mm, 44.4mm) were identified in the female sex with respect to the male sex. Transversal micrognathism was diagnosed in 75.36 percent of patients (80.49 percent females and 67.86 percent males). Conclusions: A high frequency of transversal micrognathism was found. Slight discrepancies of the index of Mayoral were identified according to the syndromic classification and the stages of growth and development while in terms of sex, significant differences were identified(AU)

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Congenital midline cervical cleft is a rare and generally isolated malformation of the ventral neck region with no clear etiology established. Mandibular deformities, such as micrognathia, could be considered as a consequence of a cleft cervical contracture. Complete surgical excision of the subcutaneous fibrous cord at an early age is the primary treatment modality, minimizing growth development problems on surrounding affected tissue. The aim of this study is to describe the clinical, surgical, and histological findings in a female child with congenital midline cervical cleft along with a relevant literature review. Three years follow-up after surgery exhibited satisfactory functional and cosmetic results.

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INTRODUCTION: Maxillary deficiency, also called transverse deficiency of the maxilla, may be associated with posterior crossbite, as well as with other functional changes, particularly respiratory. In adult patients, because of bone maturation and the midpalatal suture fusion, rapid maxillary expansion has to be combined with a previous surgical procedure to release the areas of resistance of the maxilla. This procedure is known as surgically-assisted rapid maxillary expansion (SARME). OBJECTIVE: This study discusses the indications, characteristics and effects of SARME, and presents a clinical case of transverse and sagittal skeletal maxillary discrepancy treated using SARME and orthodontic camouflage.

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