Identification of micrognathia by prenatal ultrasound may improve timely diagnosis and management of infants with Robin sequence.

OBJECTIVE: Robin sequence (RS) is a craniofacial anomaly characterized by small jaw (micrognathia) with associated tongue base airway obstruction. With advances in fetal imaging, micrognathia may be detected prenatally. This study aims to determine if prenatal recognition of micrognathia offers any advantage over being unaware of the condition until after delivery and to assess if prenatal consultation for micrognathia adds benefits beyond merely noting the presence of the condition. METHOD: Retrospective chart review examining cases from 01/01/2010 to 12/31/2020 at an urban tertiary medical center. RESULTS: Forty seven infants with RS were included. 40.4% (n = 19) had micrognathia/retrognathia noted on prenatal ultrasound. 47.4% (n = 9) of those 19 pregnancies saw a maternal fetal medicine (MFM) program with craniofacial consultation. Compared to 28 infants not diagnosed with micrognathia until after birth, the 19 infants identified prenatally required fewer transfers from birth hospital (p = 0.02). Additionally, those referred to MFM with craniofacial consultation had shorter lengths of stay when airway intervention was required (p = 0.05). CONCLUSION: Prenatal recognition of micrognathia may lead to early detection and management of RS. When RS is suspected, prenatal consultation with MFM and craniofacial team may further optimize care of the infant following delivery.

Positioning as a conservative treatment option in infants with micrognathia and/or cleft.

Evaluation and management of airway obstruction in prone position were reviewed from studies in infants with micrognathia and/or cleft palate, using polysomnography (PSG) or similar measures, and comparing prone against other positions. Most studies identified were case series from specialist referral centres. Airway obstruction appears more severe on PSG than clinical assessment, but there is no consensus for PSG definitions of mild, moderate or severe airway obstruction. Infants show individual variability in responses to positioning; sleep quality tends to improve when prone, but 22-25% have better respiratory outcomes when supine. Most centres recommend home monitoring if advising that an infant be placed prone to manage their airway obstruction. In conclusion, in case series, success rates for managing infant airway obstruction by prone positioning vary from 12 to 76%. PSG studies comparing prone with other sleep positions can help differentiate which infants show improved airway obstruction and/or sleep quality when positioned prone.

Tratamento do micrognatismo transversal com o ativador elástico de Klammt / Tratamiento del micrognatismo transversal con el activador abierto elástico de Klammt

Introdução: o micrognatismo transverso é uma anomalia dentomaxilofacial caracterizada por relações precárias entre as arcadas dentárias, geralmente devido à presença de anormalidades nos dentes, na maxila e nas articulações temporomandibulares, para as quais o ativador elástico aberto de Klammt torna-se uma opção terapêutica. Objetivo:avaliar o tratamento do micrognatismo transverso com o ativador elástico aberto Klammt. Métodos: foi realizado um estudo de intervenção do tipo quase experimental, antes e depois da modalidade sem grupo de controlo, em alunos do 2.º ano da Escola Ciro Redondo do município de Bayamo no período de 2017 a 2018. O universo foi constituído por 31 alunos da 2ª série, todos com diagnóstico de micrognatismo transverso. As variáveis estudadas foram: micrognatismo transverso, alterações clínicas, modificações esqueléticas e tempo de correção. Para a obtenção das informações foram utilizados métodos teóricos, empíricos e estatísticos e para o seo processamento utilizou-se o número (Não), a percentagem (%) e o teste de Wilcoxon. Resultados: a mordida cruzada posterior foi eliminada em 100,0 por cento dos casos e a largura maxilar atingiu valores dentro da norma em 74,19 por cento dos pacientes, a anomalia foi corrigida em 77,42 por cento dos alunos do primeiro ano de tratamento. Conclusões: demonstrou-se que, se o tratamento fosse aplicado a toda a população da área acometida pelo micrognatismo transverso, seriam obtidos resultados favoráveis com uma faixa que poderia oscilar entre 61,09 e 93,75 por cento de eficácia, o que tornou significativa a intervenção(AU)

Introducción: el micrognatismo transversal es una anomalía dentomaxilofacial que se caracteriza por presentar deficientes relaciones entre los arcos dentarios, generalmente debida a la presencia de anomalías de los dientes, maxilar y articulaciones temporomandibulares, para lo cual el activador abierto elástico de Klammt se convierte en una opción terapéutica. Objetivo: evaluar el tratamiento del micrognatismo transversal con el activador abierto elástico de Klammt. Métodos: se realizó un estudio de intervención de tipo cuasi-experimental, modalidad antes y después sin grupo control en alumnos de 2do grado de la Escuela Ciro Redondo del municipio Bayamo en el periodo 2017-2018. El universo estuvo constituido por 31 estudiantes de 2do grado, todos con el diagnóstico de micrognatismo transversal. Las variables estudiadas fueron: micrognatismo transversal, cambios clínicos, modificaciones esqueléticas y tiempo de corrección. Para obtener la información se emplearon métodos teóricos, empíricos y estadísticos y para su procesamiento se utilizaron número (No), porciento (%) y la prueba de Wilcoxon. Resultados: se eliminó la mordida cruzada posterior en el 100,0 por ciento de los casos y la anchura maxilar alcanzó valores dentro de la norma en el 74,19 por ciento de los pacientes, se corrigió la anomalía en el 77,42 por ciento de los estudiantes en el primer año de tratamiento. Conclusiones: se demostró que, si se aplicase el tratamiento a toda la población del área afectada por el micrognatismo transversal, se obtendrían resultados favorables con un rango que pudiera oscilar entre el 61,09 y el 93,75 por ciento de efectividad, lo cual hizo significativa la intervención(EU)

Outcomes of Airway Management in Micrognathia and Retrognathia Patients Born at Fetal versus Nonfetal Centers.

OBJECTIVES: There is a paucity of evidence to guide the perinatal management of difficult airways in fetuses with micrognathia. We aimed to (1) develop a postnatal grading system based on the extent of airway intervention required at birth to assess the severity of micrognathic airways and (2) compare trends in airway management and outcomes by location of birth [nonfetal center (NFC), defined as a hospital with or without an NICU and no fetal team, versus fetal center (FC), defined as a hospital with an NICU and fetal team]. METHODS: We retrospectively reviewed the prenatal and postnatal records of all neonates diagnosed with micrognathia from January 2010 to April 2018 at a quaternary children's hospital. We developed a novel grading scale, the Micrognathia Grading Scale (MGS), to grade the extent of airway intervention at birth from 0 (no airway intervention) to 4 (requirement of EXIT or advanced airway instrumentation for airway securement). RESULTS: We identified 118 patients with micrognathia. Eighty-nine percent (105/118) were eligible for grading using the MGS. When the MGS was applied, the airway grades were as follows: grade 0 (30%), grade 1 (10%), grade 2 (9%), grade 3 (48%), and grade 4 (4%). A quarter of micrognathic patients with grade 0-2 airways had postnatal hospital readmissions for airway obstruction after birth, of which all were born at NFC. Over 40% of patients with grade 3-4 micrognathic airways required airway intervention within 24 h of birth. Overall, NFC patients had a readmission rate of (27%) for airway obstruction after birth compared to FC patients (17%). CONCLUSIONS: Due to the high incidence of grade 3-4 airways on the MGS in micrognathic patients, fetuses with prenatal findings suggestive of micrognathia should be referred to a comprehensive fetal care center capable of handling complex neonatal airways. For grade 0-2 airways, infants frequently had postnatal complications necessitating airway intervention; early referral to a multidisciplinary team for both prenatal and postnatal airway management is recommended.

First data from a parent-reported registry of 81 individuals with Coffin-Siris syndrome: Natural history and management recommendations.

Coffin-Siris syndrome (CSS; MIM 135900) is a multisystem congenital anomaly syndrome caused by mutations in the genes in the Brg-1 associated factors (BAF) complex. Classically, individuals with CSS have been described with hypo- or aplasia of the fifth digit nails or phalanges (hence the term "fifth digit syndrome"). Other physical features seen include growth restriction, coarse facial features, hypertrichosis or hirsutism, sparse scalp hair, dental anomalies, and other organ-system abnormalities. Varying degrees of developmental and intellectual delay are universal. To date, approximately 200 individuals have been described in the literature. With the advent of large-scale genetic testing such as whole-exome sequencing is becoming more available, more individuals are being found to have mutations in this pathway, and the phenotypic spectrum appears to be broadening. We report here a large cohort of 81 individuals with the diagnosis of CSS from the first parent-reported CSS/BAF complex registry in an effort to describe this variation among individuals, the natural history of the syndrome, and draw some gene-phenotype correlations. We propose that changes in the BAF complex may represent a spectrum of disorders, including both ARID1B-related nonsyndromic intellectual disability (ARID1B-ID) and CSS with classic physical features. In addition, we offer surveillance and management recommendations based on the medical issues encountered in this cohort to help guide physicians and patients' families.

The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections.

Congenital diaphragmatic hernia (CDH) results from incomplete formation of the diaphragm leading to herniation of abdominal organs into the thoracic cavity. CDH is associated with pulmonary hypoplasia, congenital heart disease, and pulmonary hypertension. Genetically, it is associated with aneuploidies, chromosomal copy-number variants, and single gene mutations. CDH is the most expensive noncardiac congenital defect. Management frequently requires implementation of extracorporeal membrane oxygenation (ECMO), which increases management expenditures 2.4-3.5-fold. The cost of management of CDH has been estimated to exceed $250 million per year. Despite in-hospital survival of 80%-90%, current management is imperfect, as a great proportion of surviving children have long-term functional deficits. We report the case of a premature infant prenatally diagnosed with CDH and congenital heart disease, who had a protracted and complicated course in the intensive care unit with multiple surgical interventions, including postcardiac surgery ECMO, gastrostomy tube placement with Nissen fundoplication, tracheostomy for respiratory failure, recurrent infections, and developmental delay. Rapid whole-genome sequencing (rWGS) identified a de novo, likely pathogenic, c.3096_ 3100delCAAAG (p.Lys1033Argfs*32) variant in ARID1B, providing a diagnosis of Coffin-Siris syndrome. Her parents elected palliative care and she died later that day.

Orthodontics and Moebius syndrome: an observational study.

BACKGROUND: Moebius syndrome is a rare condition characterized by bilateral facial and abducens nerve paralysis. The aim of this study is to evaluate the main orthodontic features and the frequency of associated clinical characteristics in patients with Moebius syndrome (MS). METHODS: According to Terzis classifications, 58 patients with MS aged 8 months to 46 years old underwent orthodontics and clinical examination. RESULTS: Strabismus, upper and lower limb malformations, lip and palatal cleft were frequently associated with MS. Reduced TM movements were noted (48%). Cephalometric analysis did not allow identifying a typical facies and a characteristic cephalometric pattern; we have noticed a higher prevalence of Class II (56%) with micrognathia and excessive maxillary development probably due to the lack of lip seal. Early treatment is recommended, with a multidisciplinary approach to reduce the impact of sequelae on the lives of MS patients or their families. CONCLUSIONS: Early treatment is recommended, with a multidisciplinary approach to diminish the impact of sequelae on the lives of MS patients or their families.

Midfacial Protraction With Skeletal Anchorage After Pterygomaxillary Separation.

The present article reports the treatment of a 7-year-old girl with maxillary hypoplasia associated with multiple tooth agenesis through maxillary protraction with skeletal anchorage and pterygomaxillary separation. Two titanium mini-plates were placed in the lateral region of the nasal cavity and used as anchorage for maxillary protraction with a reverse-pull facemask. Pterygomaxillary separation was also performed to enhance the effects of maxillary protraction. One week after surgery, 300 g of force was applied on each side to protract the maxilla. Active treatment time was 4 months, with 12 additional months of follow-up. Analysis of the cone beam computed tomography images demonstrated that skeletal anchorage enabled the correction of the maxillomandibular discrepancy, with an improvement in facial appearance and occlusion and with no dental effects. Pterygomaxillary separation was not effective, showing no superior orthopedic response on maxillary advancement or restrictions to maxillary growth in the 12-month post-treatment follow-up.

Anesthetic management of an ex utero intrapartum treatment procedure: a novel balanced approach.

Ex utero intrapartum treatment (EXIT) procedures are therapeutic interventions for fetuses with life-threatening airway abnormalities and/or other prenatally diagnosed congenital malformations requiring immediate neonatal extracorporeal membrane oxygenation support. Although certain anesthetic goals are common among EXIT procedures, many different approaches to their management have been described in the literature. Herein, we present a novel anesthetic approach to an EXIT procedure for fetal micrognathia and retrognathia. We also review the indications and anesthetic considerations for these procedures and highlight the need for multidisciplinary collaboration to optimize clinical outcomes.

Meier-Gorlin syndrome.

Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females and urogenital anomalies, such as cryptorchidism and hypoplastic labia minora and majora. Typical facial characteristics during childhood comprise a small mouth with full lips and micro-retrognathia. During ageing, a narrow, convex nose becomes more prominent. The diagnosis MGS should be considered in patients with at least two of the three features of the clinical triad of microtia, patellar anomalies, and pre- and postnatal growth retardation. In patients with short stature and/or microtia, the patellae should be assessed with care by ultrasonography before age 6 or radiography thereafter. Mutations in one of five genes (ORC1, ORC4, ORC6, CDT1, and CDC6) of the pre-replication complex, involved in DNA-replication, are detected in approximately 67-78% of patients with MGS. Patients with ORC1 and ORC4 mutations appear to have the most severe short stature and microcephaly. Management should be directed towards in-depth investigation, treatment and prevention of associated problems, such as growth retardation, feeding problems, hearing loss, luxating patellae, knee pain, gonarthrosis, and possible pulmonary complications due to congenital pulmonary emphysema with or without broncho- or laryngomalacia. Growth hormone treatment is ineffective in most patients with MGS, but may be effective in patients in whom growth continues to decrease after the first year of life (usually growth velocity normalizes after the first year) and with low levels of IGF1. At present, few data is available about reproduction of females with MGS, but the risk of premature labor might be increased. Here, we propose experience-based guidelines for the regular care and treatment of MGS patients.

Orthodontic treatment of a patient with hypoglossia.

OBJECTIVE: The aim of this case study was to provide a detailed report of the orthodontic approach used in treating a Japanese patient with congenital hypoglossia. PATIENT: The patient was a 6-year-old girl with hypoglossia, micrognathia, congenital absence of three incisors, and a telescopic occlusion accompanied by an extremely narrow lower arch. She had no limb anomalies, and her speech was normal. RESULTS: Bite opening and mandibular widening from the early mixed dentition dramatically improved the extremely constricted mandible and telescopic occlusion. Cephalometric tracings taken from the beginning to the end of active treatment revealed substantial forward and downward growth in the mandible over time, which may have contributed to correction of the intermaxillary relationship. CONCLUSIONS: Treatment of telescopic occlusion by bite opening and mandibular widening from the early mixed dentition may be effective in facilitating mandibular growth acceleration. An acceptable intermaxillary occlusal relationship and improvement of profile were achieved by an orthodontic approach in this case.

Treacher Collins syndrome: a case study.

Treacher Collins syndrome is a disorder of craniofacial development with high penetrance and variable expressivity. Its incidence is approximately 1 in 50,000 live births. In this article, we describe the orthodontic treatment of an 11-year-old boy with Treacher Collins syndrome.

Ex utero intrapartum treatment for an infant with cerebro-costo-mandibular syndrome.

Cerebro-costo-mandibular syndrome (CCMS) is a rare disorder characterized by multiple rib abnormalities, micrognathia described as Pierre-Robin sequence, and cerebral involvement. Appropriate management of respiratory distress immediately after birth is crucial to rescue these patients. A boy, having a mother with Pierre-Robin sequence and a sister with CCMS, was diagnosed prenatally with CCMS and successfully treated with ex utero intrapartum treatment (EXIT) at 36 weeks 6 days of gestation. EXIT would be an effective option for rescuing patients with prenatally diagnosed CCMS and preventing neonatal hypoxia.

Ex utero intrapartum treatment of fetal micrognathia.

BACKGROUND: Ex utero intrapartum treatment (EXIT) procedures have emerged as a viable option for potentially life-saving procedures in fetuses with predicted airway compromise at birth. The ability to maintain maternal-fetal uteroplacental perfusion allows for prolonged procedures in a stable fetal hemodynamic environment thereby avoiding neonatal hypoxemia or sequelae of an emergent tracheostomy. CASE: A 26-year-old female presents with a 20-week ultrasound and subsequent magnetic resonance imaging demonstrating severe fetal micrognathia (jaw index below the 5th percentile), glossoptosis, polyhydramnios, absence of a gastric bubble, and suspected microtia concerning for Treacher Collins syndrome. An EXIT procedure was completed with successful intrapartum endotracheal intubation with a flexible fiber-optic bronchoscope through a laryngeal mask airway. CONCLUSION: This case represents the first EXIT procedure completed at Naval Medical Center San Diego. Although this case is unique, the clinical skills and coordination of care required to perform this procedure are exemplified in our daily practice of stabilizing, transporting, and definitively treating our wounded warriors. The ability to work in coordination across multiple armed services to provide the EXIT procedure to our military families, for potentially life-saving procedures, is a true testament to the current state of Military Medicine.

Early treatment of unilateral temporomandibular joint ankylosis: a multidisciplinary approach.

Ankylosis of temporomandibular joint is a condition in which partial or complete immobilization of mandible occurs because of fusion between mandibular condyle and skull base. This condition can be treated orthodontically, surgically, or therapeutically or by prosthodontic rehabilitation. A 10-year-old female patient presented to the Department of Oral and Maxillofacial Surgery, Gazi University Faculty of Dentistry, with limited mouth opening. She got injury in the face when she was 5 years old. Extraoral and intraoral examination findings were facial asymmetry on the left side, micrognathic mandible, and 19-mm mouth opening. After radiographic examination, ankylosis (Shawney type I) on the left side was revealed, and the patient was referred to Department of Orthodontics. After orthodontic clinical examination, we create following multidisciplinary treatment approach: (1) acrylic posterior bite block with spring application, (2) interpositional arthroplasty operation, and (3) physiotherapy (passive mouth-opening exercises). After the follow-up of 9 months, significant improvement (5 mm) was noticed in the opening of the mouth, and we decided to remove appliance and operate on the patient. Surgical procedure was performed under general anesthesia via blinded nasotracheal intubation. To prevent postoperative relapse, temporal fascia was interpositioned and sutured. Passive mouth-opening exercises were started 10 days after the surgery. Thirty-one-millimeter mouth opening was reached after the surgery and passive mouth-opening exercises. Patient's routine controls have been continued for 2 years.

Maxillary hypoplasia in the cleft patient: contribution of orthodontic dental space closure to orthognathic surgery.

BACKGROUND: Cleft lip and palate surgery in the developing child is known to be associated with maxillary hypoplasia. However, the effects of nonsurgical manipulations on maxillary growth have not been well investigated. The authors present the contribution of orthodontic dental space closure with canine substitution to maxillary hypoplasia and the need for orthognathic surgery. METHODS: Cleft lip/palate and cleft palate patients older than 15 years of age were reviewed for dental anomalies, orthodontic canine substitution, and Le Fort I advancement. Skeletal relationships of the maxilla to the skull base (SNA), mandible (ANB), and facial height were determined on lateral cephalograms. Logistic regression analyses were performed to estimate odds ratios. RESULTS: Ninety-five patients were reviewed (mean age, 18.1 years). In 65 patients with congenitally missing teeth, 55 percent with patent dental spaces required Le Fort I advancement. In contrast, 89 percent who underwent canine substitution required Le Fort I advancement (p = 0.004). Canine substitution is associated with a statistically significant increase in maxillary retrognathia when compared with dental space preservation on lateral cephalograms (mean SNA, 75.2 and 79.0, respectively; p = 0.006). Adjusting for missing dentition, logistic regression analyses demonstrated that canine substitution is an independent predictor for orthognathic surgery (OR, 6.47) and maxillary retrusion defined by SNA < 78 (OR, 8.100). CONCLUSIONS: The coordination of orthodontia and surgery is essential to cleft care. The authors report a strong association between orthodontic cleft closure using canine substitution with maxillary hypoplasia and subsequent Le Fort I advancement, and suggest systematic criteria for management of cleft-related dental agenesis. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, III.

Facial dysostoses: Etiology, pathogenesis and management.

Approximately 1% of all live births exhibit a minor or major congenital anomaly. Of these approximately one-third display craniofacial abnormalities which are a significant cause of infant mortality and dramatically affect national health care budgets. To date, more than 700 distinct craniofacial syndromes have been described and in this review, we discuss the etiology, pathogenesis and management of facial dysostoses with a particular emphasis on Treacher Collins, Nager and Miller syndromes. As we continue to develop and improve medical and surgical care for the management of individual conditions, it is essential at the same time to better characterize their etiology and pathogenesis. Here we describe recent advances in our understanding of the development of facial dysostosis with a view towards early in utero identification and intervention which could minimize the manifestation of anomalies prior to birth. The ultimate management for any craniofacial anomaly however, would be prevention and we discuss this possibility in relation to facial dysostosis.

Correction of complete maxillary crossbite with severe crowding using Hyrax expansion and fixed appliance.

An 18-year-old Thai man who presented with a secondary cleft palate, maxillary hypoplasia and severe crowding was treated by rapid maxillary expansion and fixed orthodontic appliances. Initial assessment found skeletal Class III malrelationship and dental Class II malocclusion with anterior and bilateral posterior crossbites. Camouflage orthodontic treatment was planned using a rapid maxillary expansion appliance and correcting crowding with extraction all four premolar teeth. A Hyrax appliance and vertical loop arch wire were placed for maxillary arch expansion of 9.5 mms at first molars and canines, and 5.5 mms at the premolars and obtained positive overjet. Both acceptable skeletal and soft tissue relationships and satisfactory occlusion were produced. After 14 months of postoperative follow-up, the occlusal result was stable and no skeletal reversals could be detected.