Síndrome de Axenfeld-Rieger. Presentación de un caso / Axenfeld-Rieger syndrome. Presentation of a case

RESUMEN El síndrome de Axenfeld-Rieger es una enfermedad de origen genético de muy baja prevalencia que se hace acompañar de manifestaciones clínicas variables con afectación ocular y no ocular. Por tales razones se decidió presentar el caso de una paciente de 14 años de edad, antecedente familiar (en este caso su madre) de dicha enfermedad, con historia de retraso mental ligero, hipoacusia y mala visión en ambos ojos que se acompaña de alteraciones oculares: malformaciones a nivel del segmento anterior: deformidad de la pupila, prominencia blanquecina perilímbica que se corresponde con un embriotoxón posterior. Presenta otros signos de afectación no oculares: dismorfismo craneofacial leve, hipertelorismo, hipoplasia maxilar con aplanamiento del tercio medio facial, frente prominente, puente nasal ancho y aplastado así como anomalías dentales. Sufre complicaciones propias de la evolución de la entidad como es el glaucoma secundario, por lo que se trató con triple terapia con hipotensores oculares, en espera de la respuesta al tratamiento para, en el caso de una evolución tórpida, proceder al tratamiento quirúrgico: trabeculectomía.

ABSTRACT Axenfeld-Rieger syndrome is a very low prevalence disease of genetic origin that is accompanied by variable clinical manifestations with ocular and non-ocular involvement. For these reasons, it was decided to present the case of a 14-years-old patient with a family history (in this case her mother) of this disease, with a history of mild mental retardation, hearing loss and poor vision in both eyes that is accompanied by ocular alterations: malformations at the level of the anterior segment: pupil deformity, perilimbic whitish prominence corresponding to a posterior embryotoxon. He presents other non-ocular signs of involvement: mild craniofacial dysmorphism, hypertelorism, maxillary hypoplasia with flattening of the midface, prominent forehead, wide and flattened nasal bridge, as well as dental anomalies. He suffers from complications inherent to the evolution of the entity, such as secondary glaucoma, for which he was treated with triple therapy with ocular hypotensive agents, pending the response to treatment, and in the case of a torpid evolution, proceed to surgical treatment: trabeculectomy.

Incidence and morphology of the incisive suture in CT scanning of young children and human fetuses.

PURPOSE: Incisive suture is a suture classically described on the oral face of the palate in fetuses and young children. The aim of our study was to describe the evolution of the incisive suture in human fetuses and to evaluate the incidence of this suture in a population of young children under 4 years, to determine if there is a possibility of improving the anterior growth of the maxilla, by stimulation of this suture. METHODS: One hundred and thirty CT scan images of patients aged from birth to 48 months have been studied and nine fetal palates aged from 18 to 26 weeks of development, have been scanned using high-resolution X-ray micro-computed tomography RESULTS: The CT scan images of patients showed that an incisive suture was present in 33/130 cases (25,4%). All the patients with a suture were under 2 years old. The fetal palate study showed that the suture was present in the inferior aspect of the palate (oral cavity) in all cases. The incisive suture increased from 18 to 24 weeks. At 26 weeks it stopped growing although the intercanine length increased. Considering the closure of the suture in a vertical plane, our study on fetuses has shown that the incisive suture is closing from its superior side (nasal side) to its inferior side. CONCLUSIONS: Considering all these results it appears to us that the incisive suture is partially ossified after birth, it cannot be stimulated by orthodontic appliances.

Bifid mandibular canals: CBCT assessment and macroscopic observation.

PURPOSE: The bifid mandibular canal is an anatomical variation, which causes anesthetic failure and surgical accidents occasionally. The purpose of this study is to observe the prevalence and anatomical location of bifid mandibular canals, providing clinical value in reducing the occurrence of surgical accidents and postoperative complications. METHODS: A total of 321 outpatients were selected in this study. Their CBCT images were observed, and the prevalence of bifid mandibular canals as well as the composition ratios of each branch type was evaluated according to the classification of Naitoh. The bifid mandibular canals and their branches' diameter, length, horizontal distance to the buccal/lingual wall of the mandible, and vertical distance to the mandibular alveolar ridge were measured. Furthermore, 194 dry adult mandibles from the Department of Oral Anatomy and Physiology of Tianjin Medical University were observed to evaluate the prevalence and the average diameter of retromolar foramina. RESULTS: Of all the 321 patients, 84 (26.17%) cases of bifid mandibular canals and 105 (16.36%) sides of unilateral bifurcation were observed. Based on Naitoh's classification, the retromolar canals were the most common types (46.67%), followed by the forward canals (40.00%), the dental canals (10.48%) and the buccolingual canals (2.86%). In 194 dry adult mandibles, 23 cases (11.86%) and 29 sides (7.47%) of retromolar foramina were found and the average diameter of retromolar foramina was 0.94 ± 0.30 mm. CONCLUSION: More than a quarter of the population has the bifid mandibular canal, which is a potential factor of the onset of surgery accidents. CBCT is an effective method to identify the branches of mandibular canals. Preoperative CBCT examination can help reduce various postoperative complications.

Whole-exome sequencing identified compound heterozygous variants in ROR2 gene in a fetus with Robinow syndrome.

BACKGROUND: Autosomal recessive Robinow syndrome (ARRS) is a rare genetic disorder, which affects the development of multiple systems, particularly the bones. OBJECTIVES: The aim of this study was to investigate the genetic cause of a ARRS fetus and to evaluate the reliability of whole-exome sequencing (WES) in prenatal diagnosis on cases with indistinguishable multiple malformation. METHODS: Clinical and ultrasonic evaluations were conducted on the fetus, and multiplatform genetic techniques were used to identify the variation responsible for RS. The pathogenicity of the novel variation was evaluated by in silico methods. Western blotting (WB) and immunohistochemistry (IHC) were performed on fetal tissues after the fetus' stillbirth and postabortal autopsy. RESULTS: A compound heterozygous variation consisting c.613C > T and c.904C > T in ROR2 gene was identified. In silico prediction suggested that c.904C > T was a deleterious variant. IHC result demonstrated that ror2 expression level of the proband in osteochondral tissue significantly increased comparing with that of the control sample. CONCLUSIONS: For the first time in Chinese population, we characterized a novel variation in ROR2 gene causing ARRS. This study extended the mutation spectrum of ARRS and provided a promising strategy for prenatal diagnosis of cases with ambiguous multiple deformities.

VALIDATION OF THE DIAGNOSTIC AND TREATMENT COMPLEX FOR PATIENTS WITH ORTHOGNATHIC DEFORMITIES AND PHONETIC DISORDERS.

Recently, there has been a tendency for the growth of dentognathic deformities of various origins, accompanied by phonetic abnormalities. Aim - to increase the effectiveness of orthodontic treatment of dentognathic deformities, accompanied by phonetic disorders, by developing and justifying a set of diagnostic and therapeutic measures based on a multidisciplinary approach. The influence of the state of ENT organs on the formation of dentognathic deformities and phonetic disturbances is studied in 155 children. A clinical dental examination and orthodontic treatment is performed in 82 patients aged 6-12 years. Individual corrective speech therapy work has been carried out to overcome the defects of the phonological side of speech. A certain pathological "chain" of cause-effect relationships of dentognathic deformities with phonetic disorders and diseases of the ENT organs became the basis for a multidisciplinary approach to solving the problems identified. The qualitative and quantitative dependence of sound deterioration on the type of orthognathic deformities is established. A complex of diagnostic and therapeutic measures for patients with dental deformities accompanied by phonetic disorders, consisting of motivational, diagnostic and therapeutic blocks, has been developed and introduced into practice. The proposed complex of diagnostic and treatment measures made it possible to increase the efficiency of orthodontic treatment of children with dentognathic deformities with disturbances of sound pronunciation depending on the type of bite by means of a multidisciplinary approach involving an otolaryngologist, speech therapist, children's therapist and surgeon, which was confirmed in 86.6% of patients by the improvement of electromyography, anthropometric measurements of scanned models of jaws, cephalometry; the analysis of cone-beam computed tomography data showed a significant increase in the upper respiratory tract volume by 53.8±4.2%.

Mosaic trisomy 22 at amniocentesis: Prenatal diagnosis and literature review.

OBJECTIVE: We present prenatal diagnosis of mosaic trisomy 22 at amniocentesis in a pregnancy with facial cleft, oligohydramnios and intrauterine growth restriction (IUGR), and we review the literature. CASE REPORT: A 37-year-old woman underwent amniocentesis at 19 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+22[9]/46,XX[9]. Array comparative genomic hybridization (aCGH) analysis on uncultured amniocytes showed a result of arr(22) × 3 [0.8]. Prenatal ultrasound revealed fetal median facial cleft, oligohydramnios and IUGR. Repeat amniocentesis at 22 weeks of gestation using uncultured amniocytes revealed an aCGH result of arr 22q11.1q13.33 (17,397,498-51,178,264) × 2.8 compatible with 80% mosaicism for trisomy 22, and a fluorescence in situ hybridization (FISH) result of mosaic trisomy 22 with trisomy 22 in 54/100 interphase cells. The cultured amniocytes at repeat amniocentesis had a karyotype of 47,XX,+22[12]/46,XX[8]. The parental karyotypes were normal. Polymorphic DNA marker analysis confirmed a maternal origin of the extra chromosome 22. The pregnancy was terminated, and a 256-g female fetus was delivered with facial dysmorphism and median facial cleft. Cytogenetic analysis of the skin fibroblasts revealed a karyotype of 47,XX,+22[33]/46,XX[7]. CONCLUSION: Fetuses with high level mosaicism for trisomy 22 at amniocentesis may present IUGR, facial cleft and oligohydramnios on prenatal ultrasound.

Accurate diagnosis of fetal cleft lip/palate by typical signs of magnetic resonance imaging.

OBJECTIVE: This study aims to evaluate the accuracy of magnetic resonance imaging (MRI) in diagnosing orofacial clefts and proposes specific signs for determining the type of cleft. METHODS: Pregnant women in whom fetal facial malformations are suspected by ultrasonography (US) underwent 1.5 T MRI. The accuracy of the prenatal US and MRI diagnosis was compared with the postnatal findings. RESULTS: A total of 71 fetuses were included in the final analysis, which comprised of 35 cases of isolated cleft lip, six cases of cleft lip and alveolus, 21 cases of cleft lip and palate, four cases of isolated cleft palate, and five normal fetuses. MRI was more sensitive than US (MRI 100%, US 77.5%; Fisher's exact test: MRI vs US P=0.000). The accuracy of MRI for all types was 100%. Specific signs (Inverted T, L/anti-L, U, and "Notch" signs) were proposed, indicating the normal hard, unilateral cleft, bilateral cleft, and cleft soft palates, respectively, which can facilitate the identification of different types of cleft palates. CONCLUSION: MRI can accurately diagnose the type of cleft based on typical signs, which can serve as a definite diagnostic modality and an effective supplement of US.

The complementary role of imaging modalities in Binder phenotype. Can prognostic factors of neonatal respiratory distress be found?

OBJECTIVE: To evaluate the complementarity between prenatal ultrasound, computed tomography, and MRI scans for fetuses with Binder phenotype. METHODS: We carried out a retrospective study from January 1, 2009, to June 30, 2018, of fetuses with Binder phenotype. Prenatal ultrasound (US) data were collected. A systematic survey of the entire skeleton was performed to look for associated abnormalities such as calcifications, brachytelephalangy, and spinal stenosis. Parents were systematically offered fetal skeletal computed tomography (CT). RESULTS: Thirteen cases were included. Two cases of perinatal respiratory distress (18%) were observed. Chondrodysplasia punctata was diagnosed from the presence of calcifications, especially of the proximal femoral epiphyses and tarsal bones, in five cases (38%) by US and in 10 cases (83%) by CT. Calcifications of the hyoid bone were detected by CT in three cases (25%) one of which had respiratory distress. Polyhydramnios was associated with the Binder phenotype in four cases (30%) one of which had respiratory distress. One single fetus had combined polyhydramnios and laryngeal calcifications, and he suffered from perinatal respiratory distress. CONCLUSION: An antenatal diagnosis of Binder phenotype is often associated with chondrodysplasia punctata. We recommend the use of fetal CT as a complement to US in this condition.

Is palato-premaxillary subduction a characteristic of Binder's syndrome?

OBJECTIVES: Binder's syndrome is a rare malformative syndrome, defined clinically. CT study of a patient with this morphotype found palato-premaxillary joint subduction on a sagittal slice. The objective of the present study was to analyze this joint in a control population free of Binder's syndrome. MATERIAL AND METHODS: Fifty adult Caucasian patients who had undergone sinus CT scan between 2013 and 2016, showing normal nasolabial angle and with good visualization of the palato-premaxillary joint on a single sagittal slice, were selected. Joint analysis by 3 observers classified the patients in 2 groups: A, showing approximation between primary and secondary palate, and S, showing subduction. Alongside the observers' subjective analysis, the following parameters were compared: posterior palato-premaxillary angle (A1), superior palato-premaxillary angle A2, and the distance (d) of the premaxilla above the secondary palate. RESULTS: Fifty patients were included: 43 in group A and 7 in group S. A1 angle differed significantly between groups: 111.95±10.22° in group A, versus 130.53±10.0° in group S; P=0.0015. Values for A2 and d did not differ according to group. CONCLUSION: Two forms of palato-premaxillary joint, showing approximation or subduction, were found in the control population. Approximation was more frequent. Palato-premaxillary subduction does not in itself characterize Binder's syndrome.

Standardizing Terminology and Assessment for Orofacial Conditions in Juvenile Idiopathic Arthritis: International, Multidisciplinary Consensus-based Recommendations.

OBJECTIVE: To propose multidisciplinary, consensus-based, standardization of operational terminology and method of assessment for temporomandibular joint (TMJ) involvement in juvenile idiopathic arthritis (JIA). METHODS: Using a sequential expert group-defined terminology and methods-of-assessment approach by (1) establishment of task force, (2) item generation, (3) working group consensus, (4) external expert content validity testing, and (5) multidisciplinary group of experts final Delphi survey consensus. RESULTS: Seven standardized operational terms were defined: TMJ arthritis, TMJ involvement, TMJ arthritis management, dentofacial deformity, TMJ deformity, TMJ symptoms, and TMJ dysfunction. CONCLUSION: Definition of 7 operational standardized terms provides an optimal platform for communication across healthcare providers involved in JIA-TMJ arthritis management.

Rigid External Distraction with Intranasal Bone-borne Traction Hooks for Midfacial Hypoplasia.

Rigid external distraction is currently performed to correct cases of severe maxillary hypoplasia. As an improvement of this technique, we propose the use of an intranasal bone-borne traction hook. This study is a retrospective chart review of the intranasal bone-borne traction hooks used in the treatment of severe maxillary hypoplasia. There were 110 patients treated with the hooks from 2005 to 2017. The maximum traction force was 7.75 kg, and there were few complications encountered during distraction. There were 76 patients who had the hooks removed under local anaesthesia. A cephalometric analysis was conducted in 56 patients. The average advancement of A-point was 9.9 ± 4.2 mm, 8.4 ± 2.5 mm, 11.0 ± 3.7 mm, 17.9 ± 4.4 mm for the trans-sutural distraction osteogenesis (DO), maxillary anterior segment DO, Le Fort I osteotomy DO and Le Fort III/II osteotomy DO, respectively. The average changes of sella-nasion-point A (SNA) were 8.89 ± 4.30 degrees, 8.21 ± 3.17 degrees, 10.49 ± 3.26 degrees, and 15.10 ± 4.00 degrees, respectively. The A point-nasion-B point (ANB) also showed increases in all procedures with P < 0.001. In conclusion, this technique sufficiently advances the midface and ensures the scars are concealed in the nasal base. The traction hook can bear a large traction force, causes minimal complications and is easily removed.

[Diagnostic and therapeutic interest of studying the nose in maxillo-dento-facial orthopedics]. / Intérêt diagnostique et thérapeutique de l'étude du nez en orthopédie dento-maxillo-faciale.

INTRODUCTION: Orthodontists have long tried to predict future growth. It is one of the most difficult goals to achieve precisely despite the different methods of growth forecasting. A simple technique based on clinical and radiological analyses of the nose and premaxilla makes it possible, using no measurements, to accurately predict future maxillary growth and to deduce the therapeutic indications. A morphologic study of the nose is also an important item in the diagnosis of cranio-facial syndromes. MATERIALS AND METHODS: Combining detailed semiologic and radiologic studies of the nasal and premaxillary structures, this article proposes a method for evaluating and predicting facial growth. RESULTS: Experience based on many observations and current embryological knowledg can detect growth abnormalities of the ethmoïdo-nasal-premaxillary unit and provide valuable therapeutic information. DISCUSSION: Combining clinical and radiologic analyses of nasal and premaxillary morphology is a good method to predict growth of the upper face. It is also an important feature in the diagnosis of cranio-facial syndromes. CONCLUSION: This technique should be included in the diagnosis of maxillo-dento-facial orthopedic cases.

Diagnosis and Treatment of Gorham-Stout Disease in Maxillofacial Regions.

PURPOSE: This study was aimed to investigate the clinical features, imaging examination, and treatment of the patients with Gorham-Stout disease (GSD) in maxillofacial region, so as to improve the understanding of GSD. METHODS: The medical records of the patients with GSD who were referred to Shanghai Ninth People's Hospital from January 2010 to May 2016 were reviewed. Their ages, lesion location, imaging results, laboratory examination results, treatment, and therapeutic effects were analyzed. RESULTS: A total of 4 cases were included (males 2, females 2). The average onset age was 40 years. GSD attacked the mandible in 2 cases; mandible and temporal bone in 1 case; and mandible, temporal bone, and zygoma in 1 case. All cases were examined by computed tomography (CT), which showed bone resorption and atrophy of soft tissue in involved region. Four patients were given alendronate for treatment. All of them had no significant signs of progress after treatment. CONCLUSIONS: GSD can affect one single bone or multiple bones in maxillofacial region. The diagnosis mainly depends on the imaging examinations. Enhanced CT or magnetic resonance imaging is advocated for differential diagnosis of this disease. Alendronate was used with apparent good effect in these patients.

Caracterización de la enseñanza-aprendizaje del diagnóstico de anomalías dentomaxilofaciales en Sancti Spíritus. 2016 / Characterization of teaching-learning of the diagnosis of dentomaxillofacial anomalies in Sancti Spíritus. 2016

Fundamento: El diagnóstico de anomalías dentomaxilofaciales es una de las funciones del estomatólogo general, de allí la importancia de su enseñanza-aprendizaje con enfoque desarrollador. Objetivo: Caracterizar la enseñanza-aprendizaje del diagnóstico de anomalías dentomaxilofaciales en Sancti Spíritus. Metodología: Se realizó un estudio descriptivo transversal en la Universidad de Ciencias Médicas de Sancti Spíritus, se seleccionó una población de 6 profesores y 32 estudiantes de cuarto año de la carrera Estomatología en el curso 2014-2015. Se emplearon métodos del nivel teórico, empírico y estadístico con procedimientos matemáticos. Resultados: Predominó el reconocimiento por parte de estudiantes y profesores de la importancia de este contenido en la asignatura Ortodoncia de la carrera Estomatología, existe experiencia de los profesores, prevaleció la educación en el trabajo entre las formas organizativas del trabajo docente, concurren limitaciones para utilizar el diagnóstico pedagógico, precisar los objetivos, estructurar y controlar los contenidos en correspondencia con el método clínico, aplicar alternativas, lograr la implicación activa de los estudiantes durante las tareas docentes y, no siempre se realiza en relación con el contexto laboral del futuro profesional. Conclusiones: A pesar de haber fortalezas para la enseñanza-aprendizaje del diagnóstico de anomalías dentomaxilofaciales, se identificaron limitaciones que la alejan del enfoque desarrollador que debe caracterizar la didáctica contemporánea. Palabras clave: Ortodoncia, diagnóstico clínico, anomalías maxilofaciales, anomalías dentarias, educación en odontología

Caracterización de la enseñanza-aprendizaje del diagnóstico de anomalías dentomaxilofaciales en Sancti Spíritus. 2016 / Characterization of teaching-learning of the diagnosis of dentomaxillofacial anomalies in Sancti Spíritus. 2016

Fundamento: El diagnóstico de anomalías dentomaxilofaciales es una de las funciones del estomatólogo general, de allí la importancia de su enseñanza-aprendizaje con enfoque desarrollador. Objetivo: Caracterizar la enseñanza-aprendizaje del diagnóstico de anomalías dentomaxilofaciales en Sancti Spíritus. Metodología: Se realizó un estudio descriptivo transversal en la Universidad de Ciencias Médicas de Sancti Spíritus, se seleccionó una población de 6 profesores y 32 estudiantes de cuarto año de la carrera Estomatología en el curso 2014-2015. Se emplearon métodos del nivel teórico, empírico y estadístico con procedimientos matemáticos. Resultados: Predominó el reconocimiento por parte de estudiantes y profesores de la importancia de este contenido en la asignatura Ortodoncia de la carrera Estomatología, existe experiencia de los profesores, prevaleció la educación en el trabajo entre las formas organizativas del trabajo docente, concurren limitaciones para utilizar el diagnóstico pedagógico, precisar los objetivos, estructurar y controlar los contenidos en correspondencia con el método clínico, aplicar alternativas, lograr la implicación activa de los estudiantes durante las tareas docentes y, no siempre se realiza en relación con el contexto laboral del futuro profesional. Conclusiones: A pesar de haber fortalezas para la enseñanza-aprendizaje del diagnóstico de anomalías dentomaxilofaciales, se identificaron limitaciones que la alejan del enfoque desarrollador que debe caracterizar la didáctica contemporánea. Palabras clave: Ortodoncia, diagnóstico clínico, anomalías maxilofaciales, anomalías dentarias, educación en odontología

Maxillofacial features and systemic malformations in expanded spectrum Hemifacial Microsomia.

Hemifacial microsomia (HFM) is a rare, multisystemic congenital disease with estimated frequency of 1/26370 births in Europe. Most cases are sporadic and caused by unilateral abnormal morphogenesis of the first and second pharyngeal arches. The aim of this study is to define the types and frequency of maxillofacial and systemic malformations in HFM patients. This is a case series study of patients with HFM evaluated at a single institution. Data were acquired through history, physical examination, photographs, diagnostic radiology, and laboratory and analyzed by the FileMakerPro database on 95 patients (54F; 41M) of which 89 met the inclusion criteria. Mandibular hypoplasia was observed in 86 patients with right-side preponderance (50). One patient had bilateral mandibular hypoplasia. Seventy-four had external ear anomalies (anotia or microtia). Eleven had bilateral malformed ears. Hearing impairment, associated with stenosis or atresia of the external ear canal, was found in 69 patients (eight with bilateral canal defects). Ocular anomalies were seen in 41 (23 with dermoid cysts) and 39 had orbital malformations. Facial nerve paralysis was observed in 38 patients. Cleft lip/palate (10), preauricular tags (55), and macrostomia (41) were also described. A total of 73/86 had systemic malformations, mainly vertebral (40), genitourinary (25), and cardiovascular (28). Sixteen had cerebral anomalies (four with intellectual disability). All patients suspected of HFM should undergo a complete systematic clinical and imaging investigation to define the full scope of anomalies. Since the disease is rare and complex, affected patients should be monitored by specialized multidisciplinary team centers.