The airway management and treatment of newborns with micrognathia and laryngomalacia / 临床耳鼻咽喉头颈外科杂志

Objective:To explore the perioperative airway management and treatment of newborns with micrognathia and laryngomalacia. Methods:From January to December 2022, a total of 6 newborns with micrognathia and laryngomalacia were included. Preoperative laryngoscopy revealed concomitant laryngomalacia. These micrognathia were diagnosed as Pierre Robin sequences. All patients had grade Ⅱ or higher symptoms of laryngeal obstruction and required oxygen therapy or non-invasive ventilatory support. All patients underwent simultaneous laryngomalacia surgery and mandibular distraction osteogenesis. The shortened aryepiglottic folds were ablated using a low-temperature plasma radiofrequency during the operation. Tracheal intubation was maintained for 3-5 days postoperatively. Polysomnography（PSG） and airway CT examination were performed before and 3 months after the surgery. Results:Among the 6 patients, 4 required oxygen therapy preoperatively and 2 required non-invasiveventilatory support. The mean age of patients was 40 days at surgery. The inferior alveolar nerve bundle was not damaged during the operation, and there were no signs of mandibular branch injury such as facial asymmetry after the surgery. Laryngomalacia presented as mixed type: type Ⅱ+ type Ⅲ. The maximum mandibular distraction distance was 20 mm, the minimum was 12 mm, and the mean was 16 mm. The posterior airway space increased from a preoperative average of 3.5 mm to a postoperative average of 9.5 mm. The AHI decreased from a mean of 5.65 to 0.85, and the lowest oxygen saturation increased from a mean of 78% to 95%. All patients were successfully extubated after the surgery, and symptoms of laryngeal obstruction such as hypoxia and feeding difficulties disappeared. Conclusion:Newborns with micrognathia and laryngomalacia have multi-planar airway obstruction. Simultaneous laryngomalacia surgery and mandibular distraction osteogenesis are safe and feasible, and can effectively alleviate symptoms of laryngeal obstruction such as hypoxia and feeding difficulties, while significantly improving the appearance of micrognathia.

Pierre Robin sequence: airway management via mandibular distraction: case report / Secuencia de Pierre Robin: manejo de vía aérea mediante distracción ósea mandibular: reporte de caso

Pierre Robin sequence is a set of congenital conditions characterized by the presence of micrognathia, glossoptosis, cleft palate and obstruction of the airways. The latter can lead to many other complications such as respiratory difficulties, apnea, weight loss and even death. Currently, mandibular distraction, or the lengthening of the mandibular bone, is the most common surgical procedure used to correct a retracted tongue and the airway obstruction it produces in patients with mandibular hypoplasia. The present paper reports the case of a 26-day-old male patient, who presented obstruction on the upper respiratory tract, mandibular retromicrognathia, and retracted tongue and cleft palate, all conditions characteristic to Pierre Robin sequence. The patient also had a medical record of orotracheal intubation due to respiratory difficulties. The subject underwent mandibular distraction surgery with a horizontal vector, which resulted in a satisfactorily cleared airway.

La secuencia de Pierre Robin es una afección congénita caracterizada por la presencia de micrognatia, glosoptosis, paladar hendido y obstrucción de la vía aérea, siendo ésta una de las principales características de la cual derivan varias complicaciones, entre ellas, dificultad respiratoria, apnea, pérdida de peso y hasta la muerte. En la actualidad la distracción ósea mandibular es la técnica quirúrgica de elección, que tiene como finalidad el alargamiento mandibular corrigiendo la posición posterior de la lengua, con la consecuente desobstrucción de la vía aérea en pacientes con hipoplasia mandibular. Se reporta caso clínico de paciente masculino con 26 días de nacido, que presentó obstrucción de la vía aérea superior, retromicrognatismo mandibular, retracción de la lengua y hendidura palatina, relacionado con la secuencia de Pierre Robin, con antecedentes de intubación orotraqueal por dificultad respiratoria, al cual se le realizó distracción ósea mandibular con vector horizontal, destacando resultados satisfactorios en la resolución de la obstrucción de la vía aérea.

"Ortoglossopelveplastia" e o algoritmo de sua utilização na sequência de Pierre-Robin / "Orthoglossopelveplasty" and the algorithm for its use in the Pierre Robin sequence

Introdução: Muitos pacientes portadores de sequência de Pierre Robin (micrognatia, glossoptose e obstrução de via aérea) apresentam o músculo genioglosso alterado, encurtado e retrátil, que impede a protração lingual, mantendo a parte anterior da língua verticalizada e seu volume deslocado em direção posterior. Isso pode corroborar para obstrução supraglótica, dificuldade alimentar e inversão das forças de estímulo do crescimento do corpo mandibular. Métodos: Estudo retrospectivo de pacientes com Pierre Robin tratados entre 2012 e 2017 pela equipe, com descrição da "ortoglossopelveplastia", que propõe uma modificação na glossopexia, soltando o genioglosso anômalo da sua inserção, liberando a língua para elevar seu terço anterior e avançar o volume de sua base, sendo auxiliada por ponto de tração da base lingual à sínfise mandibular. Apresentamos um algoritmo de tratamento proposto que prioriza a necessidade desta cirurgia, associada ou não à distração mandibular, de acordo com a gravidade da dificuldade respiratória e/ou alimentar. Resultados: São apresentados 12 casos de obstrução da orofaringe atendidos de 2012 a 2017, discutem-se suas prioridades, a ortoglossopelveplastia e se aplica o algoritmo proposto. Conclusão: A reorganização anatômica da musculatura em uma posição anteriorizada correta proporciona protração e funcionalidade à língua, com desobstrução da via aérea na orofaringe, melhora da função alimentar e do desenvolvimento mandibular, com baixa morbidade cirúrgica e poucas complicações.

Introduction: Several patients with the Pierre Robin sequence (micrognathia, glossoptosis, and airway obstruction) have an altered, shortened, and retractable genioglossus muscle that prevents protraction of the tongue and keeps the anterior part of the tongue vertical and its volume posteriorly displaced. This can contribute to supraglottic obstruction, feeding difficulty, and inversion of the growth stimulation forces of the mandibular body. Methods: A retrospective study of patients with the Pierre Robin sequence treated between 2012 and 2017 with "orthoglossopelveplasty," which includes modification of glossopexy, releasing the anomalous genioglossus of its insertion and releasing the tongue to raise its anterior third and advance the volume of its base using a traction suture of the tongue base to the mandible symphysis. We present a treatment algorithm that prioritizes the need for surgery associated, or not, with mandibular distraction in accordance with respiratory and/or feeding difficulty severity. Results: Twelve cases of oropharyngeal obstruction treated from 2012 to 2017 are presented, their priorities and orthoglossopleoplasty are discussed, and the proposed algorithm is applied. Conclusion: Anatomical reorganization of the musculature in a correct anterior position provides protraction and functionality to the tongue, clears the airway in the oropharynx, and improves the feeding function and mandibular development, with low surgical morbidity rates and few complications.

Jaws can be referred to as narrow or hypoplastic, but the term "atresia" is inaccurate!

ABSTRACT In order to lead to insights and discussion on proper use of Orthodontics and Pathology-related terminology, particularly in cases of smaller-than-usual maxilla and mandible - that is, anomalous ones -, this study compared the conceptual meaning of the term "atresia." It is considered improper when referring to maxilla and mandible with deficient growth compared to development that is satisfactory enough to reach normal size. To identify smaller maxilla and mandible, the most proper and accurate term is hypoplastic maxilla or mandible. This is because "atresia" stands for an anomaly related to lumen blockage in hollow organs, which is not the case for neither maxilla nor mandible. Hypoplastic maxilla or mandible can be properly and specifically referred to as micrognathia.

RESUMO Para induzir reflexões e discussões sobre o uso adequado da nomenclatura em Ortodontia e Patologia, para os casos em que a maxila e a mandíbula apresentam-se pequenas ou menores do que o habitual, ou seja, anômalas, comparou-se o significado conceitual do termo "atrésica". Esse termo não é adequado quando aplicado à maxila e à mandíbula para identificar situações em que houve um desenvolvimento com crescimento insuficiente para se chegar ao tamanho normal. Para identificar maxila e mandíbula menores, é mais adequado e preciso o uso do termo maxila ou mandíbula hipoplásica. Isso porque atresia representa uma anomalia por obstrução da luz ou lume em órgãos ocos, o que não ocorre na maxila ou na mandíbula. Maxila ou mandíbula hipoplásica também podem ser chamadas, apropriada e especificamente, de micrognatia.

Tratamiento de anquilosis temporomandibular con materiales aloplásticos en niños: reporte de 3 casos / Treatment of temporomandibular joint ankylosis with alloplastic materials in children: report of 3 cases

La anquilosis de la articulación temporomandibular en niños continúa siendo una patología presente a pesar de los avances médicos y sociales. El tratamiento de esta patología en niños tiene como objetivos restablecer la apertura bucal y mejorar la estética facial, cuando se presentan hipoplasias o micrognatias asociadas. El objetivo del uso de materiales aloplásticos para el tratamiento de esta patología en niños es evitar la morbilidad y los gastos que ocasiona la toma y aplicación de injertos, para esto, durante 15 años, en la Unidad Médica de Alta Especialidad del Instituto Mexicano del Seguro Social, Torreón, Coahuila, México, Departamento de Cirugía Maxilofacial, se ha establecido el protocolo de tratar esta patología en niños con el uso de prótesis metálicas de cavidad glenoidea, en lugar de injertos costales o de otro tipo, además de tratar las hipoplasias o micrognatias en un mismo tiempo quirúrgico con el uso de aparatos distractores óseos, teniendo excelentes resultados a mediano plazo, sin daño a estructuras anatómicas ni a los procesos de crecimiento y desarrollo de los pacientes. Se utilizan prótesis prediseñadas de cromo, cobalto, molibdeno, que se adaptan adecuadamente a las estructuras óseas, siendo un material utilizado ya en otras áreas de la ortopedia en niños, concluyendo que se trata de una buena opción de tratamiento que disminuye el riesgo, frecuencia y costos de cirugías de mayor complejidad y que puede llevarse a cabo de manera segura y predecible. En este artículo se reportan tres casos de niños con anquilosis temporomandibular tratados con este método con buenos resultados (AU)

Temporomandibular joint ankylosis in children is actually a pathology still present despite the medical and social advances. The treatment of this pathology in children has restored the buccal opening and improve the facial aesthetics when hypoplasia and micrognathia are present. The purpose of using alloplastic material for treatment of this disease in children is to prevent morbidity and expenses related to making and implementing grafts, for this, for 15 years in the Medical Unit of High Specialty the Mexican Institute of Social Security, Torreon, Coahuila, Mexico, Department of Maxillofacial Surgery, has been established protocol to treatment this pathology in children with the use of metal glenoid prosthesis instead of rib grafts or otherwise in addition to treating hypoplasias or micrognatias in the same surgical time with the use of distracting devices bone, having excellent results in the medium term without damage to anatomical structures or processes of growth and development of patients. The prosthesis used predesigned chromium, cobalt, molybdenum, which are suitably adapted to the bone structures, with a material already used in other areas of orthopedics in children, concluding that this is a good treatment option that reduces the risk, and surgeries often cost more complex and can be performed safely and predictably. In this paper, three cases of children with temporomandibular ankylosis treated with this method with good results are reported (AU)

Secuencia malformativa de Pierre Robin: informe de un caso y revisión de la literatura / Pierre Robin sequence: case report and literature review

Durante la infancia es muy frecuente encontrar alteraciones del desarrollo,las cuales derivan de una defi ciente formación de las estructurasanatómicas durante la embriogénesis. Puede encontrarse un sinnúmerode alteraciones del desarrollo que afectan la región bucal y maxilofacial.La gran mayoría de estas alteraciones han sido catalogadas como síndromes de orden genético; sin embargo, no todas pueden describirse como tales, pues existen anomalías del desarrollo que aparecen como consecuencia de una deficiente embriogénesis de la región facial, provocando alteraciones anatómicas y funcionales, pero que se apartan de componentes genéticos y cromosómicos específi cos. La secuencia malformativa de Pierre Robin es una de ellas, ya que esta condición es producida por una afección inicial, de la cual derivarán otras afeccionesadicionales a nivel del paladar y de la mandíbula que ocasionarán en elpaciente dificultad para la alimentación y respiración. Debido a que las alteraciones de esta condición afectan directamente la cavidad bucal,es crucial que el odontólogo se encuentre familiarizado con esta anomalía. El objetivo del presente artículo es describir las característicasque configuran esta entidad nosológica mediante la exposición de un caso clínico y revisión de la literatura.

During childhood, it is frequent to find development disorders whichare linked to the weak formation of anatomic structures duringembryogenesis. It is possible to find a plethora of developmentdisorders that aff ect the oral and maxillofacial region. The majorityof these disorders has been classifi ed as genetic malformations butnot all can be described as such. That is because some developmentdisorders appear as a result of a defi cient embryogenesis of the face,producing thus anatomic and functional malformations but that standapart from genetic and chromosomic specifi c components. The Pierre Robin sequence is one of them, given that this condition is producedby an initial disorder, followed by other disorders in the palate andjaw; provoking alimentary and breathing disabilities in the patient.Due to these disorders and their impact on the mouth, it is crucial thatdentists be familiarized with such anomalies. The aim of this article isto describe the key characteristics that defi ne this disease through thepresentation of a clinical case and a literature review.

Clinical efficacy of EH composite material combined with CAD/CAM technique in plastic treatment of unilateral micrognathia / 中华医学美学美容杂志

Objective To evaluate the clinical efficacy in the treatment of unilateral micrognath ia by using EAM medical resin and hydroxyapatite (EH) composite material combined with the CAD/ CAM technique.Methods From July 2011 to October 2015,12 cases of unilateral micrognathia caused by different reasons were treated,based on the representative traits and requirements,refering to the unsymmetric counter part by right of CAD/CAM technique.By the 3-dimensional design and reconstruction,we reformed the EH composite material into purposed shape,and insert it in the operative area.Results All the materials were closely suitable to the mandible surfaces.1 case failed because the wound was torn apart;the other 11 patients recovered more than 6 months and were satisfied with the external appearance.Conclusions The EH composite materials combined with CAD/ CAM techniques could be a potential characterized remedy for the unilateral micrognathia.

Pierre Robin syndrome: a case report.

Pierre Robin syndrome is characterized by micrognathia, glossoptosis and palatal malformation. We report a case of a 6 day neonate who presented with complaints of feeding and respiratory difficulty and was later diagnosed as case of Pierre Robin syndrome.

Establishment and preliminary analysis of fluid dynamics model of the subjects with micrognathia / 实用口腔医学杂志

Objective:To establish a fluid dynamics model of upper airway before and after surgery and explore the changes of three-dimensional fluid dynamics in patients with micrognathia.Methods:A patient with micrognathia and severe obstructive sleep apnea-hypopnea syndrome(OSAHS)accepted CT scan before and six months after mandibular advancement operation.Computation-al fluid dynamics model was built on the base of CT scan by Mimics 1 0.01 and ANSYS ICEMCFD1 4.0.The internal flow of upper respiratory tract was simulated by ANSYS-FLUENT 1 4.0 and the results were analyzed by Tecplot.Results:Fluid dynamics model of upper airway was constructed before and after the surgery respectively.The volume of the upper airway of the patient increased from 37.284 cm3 to 44.498 cm3;the most narrow area of upper airway was located in the lower bound of pharyngopalatiae,and it was augmented from 1 .1 35 cm2 to 2.297 cm2;the minimum pressure was decreased from1 01 308 Pa to 1 01 272 Pa;the maximum air velocity increased from 3.476 m/s to 4.978 m/s.Conclusion:Mandibular advancement may correct the occlusal deformity,ex-panse the upper respiratory tract,decrease the negative pressure and maintain the patency of the airflow in the treatment of patients with micrognathia and OSAHS.

3p Deletion Syndrome.

3p deletion is a rare cytogenetic finding. Here we describe a 3 months old male with congenital malformations. His karyotype revealed 3p deletion 46,XY,del(3)(p25-pter). The child had flexion deformity of wrist and elbow which has never been reported before.

Wolf–Hirschhorn syndrome: A case demonstrated by a cytogenetic study.

We present a case with a 4p terminal deletion, evidenced in GTG-banded chromosome study. Phenotypic signs described in the classical Wolf–Hirschhorn syndrome were found on clinical examination of our patient.

Síndrome de Richner-Hanhart e suas manifestações otorrinolaringológicas: relato de caso / Richner-Hanhart Syndrome and its otorhinolaryngologic manifestations: case report

INTRODUÇÃO: A Síndrome de Richner-Hanhart se caracteriza pela ausência em grau variável de porções distais de uma ou mais extremidades, associada à micrognasia e microglossia severa. A etiologia desta rara síndrome permanece desconhecida. RELATO DE CASO: Neste artigo relatamos o caso de um paciente com Síndrome de Richner-Hanhart que apresentava ausência de terço anterior da língua, micrognatia, malformações dos pododáctilos e quirodáctilos, de pés e mãos, além de desvio de septo nasal para esquerda. COMENTÁRIOS FINAIS: O tratamento consiste em dieta com restrição de tirosina e acompanhamento contínuo com otorrinolaringologista e fisioterapeuta.

INTRODUCTION: Richner-Hanhart Syndrome is characterized by the absence in a variable degree of distal portions of one or more extremities, in association with micrognathia and severe microglossia. The etiology of this infrequent syndrome remains unknown. CASE REPORT: In this article, we report the case of a patient with Richner-Hanhart Syndrome, who showed an absence of the back third of the tongue, micrognathia, malformation of fingers and toes, as well as nasal septum deviation to the left. FINAL COMMENTS: The treatment comprises a tyrosine-restricted diet together with a continuous follow-up with an otorhinolaryngologist and a physiotherapist.

Genioplasty and Orthognathic Surgery in Skeletal Class II

Although 'small chin' is not a medical terminology, it is widely used between non-medical persons and even between medical doctors. But there are two kinds of diagnosis which look small chin. One is microgenia and another is micrognathia and because they called as a same name 'small chin', sometimes they are confused and result in suboptimal operation result. Microgenia can be treated by advancing sliding genioplasty, implant insertion and sometime by fat grafting. And micrognathia must be treated by orthognathic surgery theoretically. But many times advancing sliding genioplasty, implant insertion or fat grafting are applied to micrognathia. Sometime it was done by misdiagnosis but sometimes it is done intentionally to avoid orthognathic sugery which is considered as a complicated operation to the peoples who are unfamiliar to it. Sometimes it results in somewhat acceptable result, but it is not the best. So in this article, the author is going to discuss about the different results of orthgnathic surgery and camouflage sliding advancing genioplasty.

An anesthetic experience in a patient with Stickler sydrome: A case report

Stickler syndrome is a connective tissue dysplasia disorder with characteristic midface hypoplasia, retromicrognathia, cleft palate, and a moon-shaped appearance. Incidence of the syndrome is estimated at around 1/10000 and the disorder is considered to be caused by mutations in the COL2A1, COL11A1, COL11A2, COL9A1 procollagen genes of type 2 and 11 collagen. Patients with a mandibular hypoplasia like Stickler syndrome present the anesthesiologist with considerable problems when mask ventilation or endotracheal intubation is attempted. We report a successful anesthetic experience, including blind endotracheal intubation with rigid laryngoscope without neuromuscular blockade, in a 9-year-old boy with Stickler syndrome for scleral buckling with cryotherapy.

Polymorphisms of the noggin gene and mandibular micrognathia: a first approximation

Mandibular micrognathia is a deficiency in mandibular growth that prevents tooth contact during mastication, interferes with phonation and even causes sleep apnea. Studies show that mutant mice for chd (chordin) and nog (noggin) genes, which are modulators of the Bone Morphogenic Protein (BMP), had mandibular defects ranging from mandibular hypoplasia to micrognathia and agnathia. The human NOG gene was the first BMP antagonist identified and it is essential for various late events in mandibular development, which require modulation of the BMP activity. The aim of this work was to determine the presence of NOG gene polymorphisms in families with mandibular micrognathia and analyze its phenotype. Four families with mandibular micrognathia were included in this study. Blood samples were taken from the participating individuals through venipuncture and DNA was extracted. The fragments of interest were amplified using the Polymerase Chain Reaction (PCR) and the Single Nucleotide Polymorphisms (SNPs) of the NOG gene reported in the NCBI data base were analyzed through direct sequencing. The SNP rs1348322 was present in homozygote form in the subjects from all the families, where Cytosine is changed to Adenine in position 112 of the exon of the NOG gene. The SNP rs 1236187 did not show any clear result. This result suggests that there may be population polymorphism, or markers that are seldom polymorphic for our population. It is therefore necessary to continue with the search for the relationship of the NOG gene with mandibular micrognathia.

El micrognatismo mandibular, deficiencia en el crecimiento de la mandibula, no permite que los dientes entren en contacto durante la masticacion, interfiriendo con la fonacion y produciendo inclusive apnea del sueno. Estudios con ratones mutantes para el gen chordin (chd) o noggin (nog) moduladores de las proteinas morfogenicas oseas (BMP) presentaron defectos mandibulares, que van desde hipoplasia mandibular, pasando por micrognatia hasta agnatia. El gen NOG humano fue el primer antagonista de BMP identificado y es esencial para varios eventos tardios del desarrollo mandibular, que requieren modulacion de la actividad de las BMP. El objetivo del trabajo fue determinar la presencia de polimorfismos del gen NOG en pacientes con micrognatismo mandibular y analizar su fenotipo. Se tomaron 4 familias con micrognatismo mandibular, muestras de sangre fueron tomadas por venopuncion a los individuos participantes, el ADN fue extraido, se realizo la amplificacion de los fragmentos correspondientes a los polimorfismos rs 1236187 y rs 1348322 mediante PCR (Reaccion en Cadena de la Polimerasa) y se analizaron los SNPs del gen NOG reportados en la base de datos NCBI, mediante secuenciacion directa. El SNP rs 1348322, se presento en forma homocigota en los individuos de todas las familias, donde se da el cambio de una Citosina por una Adenina en la posicion 112 del exon del gen NOG. El SNP rs 1236187, no arrojo ningun resultado en forma clara. Este resultado sugiere que posiblemente pueden tratarse de polimorfismos poblacionales, o de marcadores poco polimorficos para nuestra poblacion, por lo tanto es necesario continuar en la busqueda de la relacion del gen NOG con el micrognatismo mandibular.

The successful intubation using Shikani Optical Stylet(TM) on difficult intubation patients: A report of 2 cases

The Shikani Optical Stylet(TM) (SOS, Clarus Medical, USA) is another tool to facilitate tracheal intubation. It combines the benefits of a lightwand and a fiberoptic bronchoscope. We report the application of SOS in facilitating the tracheal intubation of two-person with history of difficult airway management. A 25-year-old woman with micrognathia was scheduled to undergo an exploratory laparotomy. Intubation attemps failed with a direct laryngoscope because of difficulty in her mouth opening. Although airway management was re-attempted by a laryngeal mask airway, it also failed for the same reason. Airway management was successfully performed using the SOS instead of a laryngeal mask airway. The second case was a 38-year-old woman with ankylosing spondylitis, scheduled for spinal fusion. She had difficulty in extending her neck. Intubation was successfully performed via the SOS. We believe that intubation by the SOS is a useful and readily available alternative technique for patients with difficult airways.

The review of Pierre Robin sequence / 国际儿科学杂志

The Pierre Robin sequence (PRS)is a congenital abnormality which is not only causally heterogeneous but also with a group of physical findings, characterized by the presence of the combination of underdeveloped(micrognathia) or retropositioned(retrognathia) mandible,glossoptosis that leads to respiratory tract obstruction with or without cleft palate. PRS is clinically defined by obstruction of the upper airways, feeding difficulties, inspiration pneumonia and some accompany with multiple -anomalies that are more frequent and more severe during the immediate postnatal and neonatal period. Diagnosis of PRS may be made immediately when a neonate presents in respiratory distress with micrognathia. Further examination may show the posterior placement of the tongue and possibly a cleft palate. Now that the strong association of PRS with many multiple - anomaly syndromes is recognized, treatment must be individualized to optimize the outcome. Most PRS children have failure to thrive,and long -term outcomes vary greatly,depending on whether the PRS is an isolated occurrence or part of an associated syndrome and on whether the infant experienced any obstructive-hypoxic episodes.

Síndrome de pirrre robín / Pierre Robin Syndrome

Se presenta el caso de una lactante menor de 5 meses de edad, internada en el Servicio de Medicina Hospital del Niñ@ Manuel Ascencio Villarroel con el diagnóstico de Síndrome de Pierre Robin y diversas malformaciones concomitantes: mucocele lingual, colpocefalia, hipoplasia de fosa posterior, nistagmus, paraparesia espástica, retraso del desarrollo, displasia bilateral de cadera, 6º ortejo en miembro inferior derecho, desnutrición crónica y reiterativos cuadros de neumonía intersticial.

A case of an infant under 5 months of age, admitted to the Medicine Service in the Hospital Manuel Ascencio Villarroel, diagnosed with Pierre Robin Syndrome and various malformations concomitant lingual mucocele, colpocephaly, hypoplastic posterior fossa, nystagmus, spastic paraparesis, developmental delay, bilateral hip dysplasia, 6th toe in the right leg, chronic malnutrition and repetitive tables interstitial pneumonía.

A Case of Hypoglossia-Hypodactylia with t(3q;19p)

Hypoglossia-hypodactylia syndrome is a congenital disease which is characterized by severe micrognathia, hypoglossia and various anomalies of extremities. This was first reported as 'aglossia congenita' back in 1932 by Rosenthal, and has been reported many times ever since, but has never been reported in Korea. Hall first used the term 'hypoglossia-hypodactylia syndrome', and classified it as one of the oromandibular-limb hypogenesis syndromes. According to the studies, most of the cases are sporadic, and this is known to be due to the dominant mutant gene. Etiology is still unknown, but a number of theories have been proposed, such as intrauterine damage and vascular distruptive mechanism. We report a case on hypoglossia-hypodactylia syndrome in a male neonate with karyotype showing 46,XY,t(3;19)(q22;p12) with the review of the associated literatures.

Anatomical Factors to Discriminate Difficult Tracheal Intubation in Micrognathia / 대한마취과학회지

BACKGROUND: Micrognathia is the prime, constant bony finding that signals trouble for access to the airway. Anatomical factors of difficult tracheal intubation in micrognathia have been evaluated. METHOD: Forty one patients with micrognathia were divided into 3 groups based on modified Mallampati classification. Lateral cephalometric view taken preoperatively was used to measure 13 anatomical factors. Kruskal-Wallis test and discriminant analysis were used to select the most predictable factors for distinguishing between the difficult and easy groups. RESULTS: The most discriminating factors are mandibulo-hyoid distance(V12), atlanto-occipital distance(V10) and mentum-hyoid distance(V11). The discriminant analysis using above 3 factors gives the following discriminant functions(Y1= 0.7924(V12) - 0.2154(V10) - 0.3531(V11) (discriminant function 1), Y2= -0.2177(V12) + 0.8221(V10) -0.6304(V11) (discriminent fuction 2)) and the discriminating power of difficult intubation is 72.9%. CONCLUSIONS: Modified Mallampati classification and lateral cephalometric assessment of 3 anatomical factors can predict the difficult intubation.