Research progress on the regulation of craniofacial development and malformation by fibroblast growth factor 8 / 口腔疾病防治

@#Fibroblast growth factor 8 (FGF8) is a kind of secretory polypeptide that has crucial roles in the development of various tissues and organs. Current studies have found that FGF8 can regulate the differentiation of cranial neural crest cells by activating the mitogen-activated protein kinase (MAPK) signaling pathway and affect the establishment of mandibular arch polarity and the development of craniofacial symmetry by regulating the expression of target genes. Cleft lip with or without cleft palate, ciliopathies, macrostomia and agnathia are four developmental malformations involving the craniofacial region that seriously affect the quality of life of patients. The abnormal FGF8 signal caused by gene mutation, abnormal protein conformation or expression is closely related to the occurrence of craniofacial malformations, but the molecular mechanism and signaling pathway underlying these malformations have not been fully elucidated. Craniofacial development is a complex process mediated by a variety of signaling molecules. In the future, the role of various signaling molecules in craniofacial development and malformations need to be explored to provide a new perspective and vision for the prevention and treatment of these craniofacial malformations.

Macrostomia congênita associada à microtia unilateral: um Relato de Caso / Congenital macrostomia associated with unilateral microtia: a case report

A macrostomia congênita, também denominada fissura facial transversa, horizontal ou lateral, constitui 1,5% de todas as fissuras. A expressão clínica variável envolve desde uma forma discreta até casos graves com malformações desfigurantes. Deformidades da orelha externa podem estar presentes, desde excesso de pele até ausência do pavilhão. A macrostomia congênita deve ser submetida a uma investigação sistemática clínica e de imagem para definir o âmbito das anomalias, uma vez que a doença é rara, complexa e manifesta-se fenotipicamente de maneiras distintas. Este presente artigo relata um caso de macrostomia congênita associada à microtia unilateral.

Congenital macrostomia, also called transverse, horizontal, or lateral facial cleft, constitutes 1.5% of all clefts. The variable clinical expression ranges from mild to severe cases with disfiguring malformations. External ear deformities can be present, from excess skin to the absence of the pinna. Congenital macrostomia must be submitted to a systematic clinical and imaging investigation to define the scope of the anomalies, since the disease is rare, complex and manifests itself phenotypically in different ways. This article reports a case of congenital macrostomia associated with unilateral microtia.

Transverse Facial Cleft, Tessier number 7: Case Report of a Rare Congenital Anomaly

@#Transverse facial cleft (TFC), Tessier number 7, is a rare congenital anomaly commonly associated with other anomalies of the first and second branchial arch with varying severity. Risk factors such as alcohol abuse, folic acid deficiency, and ingestion of herbal concoctions in pregnancy have been implicated in this deformity. We report a case of a bilateral transverse facial cleft in a newborn and review the existing literature on the condition to increase awareness and knowledge.

Surgical correction of unilateral macrostomia with modified square vermilion flap / 中华整形外科杂志

Objective@#To evaluate the outcome of unilateral macrostomia repairment, using modified square vermilion flap for commissuroplasty and straight-line suture for buccal defect repair.@*Methods@#Forty-six patients (29 male, 17 female) with unilateral macrostomia underwent surgical interventions. All cases underwent the same surgical procedures: the commissuroplasty using modified square vermilion flap, cross-over lapping suture to reconstruct orbicularis oris muscle, and straight-line suture to repair buccal defect. Patients had the surgeries at the age of 3 months to 19 years (median age of 6.6 months). The static and dynamic facial appearance were recorded both preoperatively and postoperatively. The appearance of ipsilateral oral commissure, the symmetry of bilateral commissures, the appearance of transferred square vermilion flap, and the recovery of the buccal scar were observed.All patients were followed for more than 6 months (ranging from 6 months to 3 years, with an average of 11.5 months).@*Results@#All 46 patients healed well at stage I. The commissures of 42 cases were basically symmetrical in both horizontal and vertical directions.Forty patients had symmetrical mouth when smiling and mouth opening. The vermilion flap was transferred to the lower lip in 45 cases. Their scars were smooth, and almost invisible. However, 18 patients had different local mucosal protrusion. All the buccal wound showed straight lines, without distorting or deforming the nasofacial grooves, when smiling or mouth opening. The buccal scar of 43 cases is smooth and not obvious.@*Conclusions@#The modified square vermilion flap can effectively reconstruct commissure caused by macrostomia. A small local mucosal protrusion is very common at the site of transferred vermilion flap, which might need secondary surgical correction. The buccal wound can be closed by the straight-line suture method, without obvious scar left, and avoid asymmetrical commissures and distorted nasolabial grooves. The fine muscle reconstruction and stratified sutures are important for a good surgical outcome.

The treatment of 23 patients with macrostomia by modified modiolus reconstruction / 中华整形外科杂志

Objective@#To explore a method for macrostomia repairment, in order to to achieve better physiological and aesthetic outcomes.@*Methods@#23 patients with macrostomia were treated by standard procedure: including orbicularis oris reconstruction, perioral expression muscles fixation, modiolus reconstruction, commissure point shift, and " w" shape incision.@*Results@#22 cases obtained both static and dynamic symmetrical outcomes. One case developed asymmetrically.@*Conclusions@#The macrostomia repairment following present standard procedure, is likely to achieve both static and dynamic satisfactory outcomes, due to balanced perioral muscles.

Tratamento cirúrgico de macrostomia / Surgical Treatment of Macrostomia

A macrostomia é uma rara anomalia congênita, definida como alargamento da boca na região das comissuras orais. Pode-se apresentar na forma bilateral ou unilateral, e ocorre principalmente por uma falha na fusão dos processos maxilar e mandibular do primeiro arco branquial. Pode ocorrer isoladamente ou associada a diversas síndromes. Os principais problemas associados à macrostomia são alterações estéticas e dificuldades na deglutição e fonação. Relato de Caso: O objetivo deste trabalho é mostrar um caso clínico de um paciente de 3 anos de idade com macrostomia bilateral. Foi instituído tratamento cirúrgico sob anestesia geral em ambiente hospitalar. Foram realizadas incisões cutâneas e na mucosa oral, e realizado o fechamento em linha reta. O paciente evolui bem com cicatriz facial satisfatória e funções do esfincter oral reestabelecidas. Conclusão: A macrostomia é uma anomalia congênita que necessita de tratamento cirúrgico. O fechamento em linha reta apresentou bons resultados estéticos e funcionais... (AU)

Macrostomia is a rare congenital anomaly, defined as extending from the mouth in the region of the oral commissure. Can be present in bilateral or unilateral, and occurs mainly by a failure of fusion of the mandibular jaw processes of the first arch. Can occur alone or associated with several syndromes. The main problems associated with macrostomia are cosmetic changes and difficulties in swallowing and speech. Case Report: The objective of this study is to present a clinical case of a 3-year-old patient with bilateral macrostomia. Surgical treatment was instituted under general anesthesia in a hospital setting. They were carried out skin and oral mucosa incisions, and performed the closing straight line. The patient progressed well and satisfactory facial scar and functions of the re-established oral sphincter. Conclusion: Macrostomia is a congenital anomaly that requires surgical treatment. The closing straight line presented good cosmetic and functional results. had experienced some form of UME during their professional practice, of these, 86.2% have felt prepared to intervene when it occurred and 84.2% said they did not have equipment and drugs for emergencies in clinics. Therefore, professionals are not adequately trained and equipped to work in the event of an UME in his office... (AU)

Diabetes mellitus en niños de 7 a 11 años con alto peso al nacer / Diabetes mellitus among 7- to 11-year-old children with high birth weight

INTRODUCCIÓN: la diabetes mellitus es una enfermedad causada por un desorden nutricional que se caracteriza por eliminación excesiva de orina, que frecuente tiene azúcar. La diabetes también puede producir adelgazamiento, sed intensa y otros trastornos. Es una enfermedad que se asocia a un riesgo incrementado de enfermedad coronaria y que en la actualidad ha adquirido el rango de pandemia. OBJETIVO: identificar asociación del alto peso al nacer con la diabetes mellitus en niños de 7 a 11 años. MÉTODOS: se realizó un estudio descriptivo con un diseño de tipo caso-control con los niños nacidos entre enero de 1992 y diciembre de 1995, con el fin de identificar de forma temprana, asociación de la diabetes con el alto peso al nacer en niños de 7 a 11 años. RESULTADOS: se estudiaron los escolares entre 7 y 11 años que se encontraban en el curso de la enseñanza primaria. La población estudiada estuvo representada por 140 y el grupo control por 100. CONCLUSIONES: el alto peso al nacer no constituyó por si solo un factor predictor para la diabetes mellitus.

INTRODUCTION: Diabetes mellitus is a condition caused by a nutrition disorder characterized by excessive discharge of urine, which often contains sugar. Diabetes may also cause weight loss, intense thirst and other disorders. The condition, which is associated with increased risk for coronary heart disease, has currently achieved the rank of pandemic. OBJECTIVE: Identify the association between high birth weight and diabetes mellitus in 7- to 11-year-old children. METHODS: A descriptive case-control study was conducted with children born from January 1992 to December 1995, aimed at early identification of the association between diabetes and birth weight in 7- to 11-year-old children. RESULTS: The children studied were 7- to 11-year-olds attending elementary education. The study population consisted of 140 children, and the control group of 100. CONCLUSIONS: High birth weight of itself was not a predictor of diabetes mellitus.

Correção cirúrgica da macrostomia congênita unilateral e bilateral: relato de casos e revisão da literatura / Surgical correction of unilateral and bilateral congenital macrostomia: a case report and literature review

INTRODUÇÃO: A incidência da microssomia craniofacial é de 1 em 5600 nascidos vivos. É a segunda anomalia craniofacial mais comum após as fissuras labiais e palatinas. A fissura número 7 está associada entre 17 a 62% dos casos de microssomia hemifacial e começa na comissura labial, podendo prolongar-se até a linha capilar pré-auricular. As deformidades da orelha externa vão desde excesso de pele pré-auricular até ausência completa da orelha. A comissuroplastia está indicada em pacientes com macrostomia ou fissura facial lateral verdadeira. O objetivo é demonstrar dois casos de macrostomia e fazer uma revisão da literatura sobre o tema. MÉTODOS: Em nosso estudo descrevemos dois casos de macrostomia tratados com retalhos de mucosa e plástica em Z. RESULTADOS: Obtivemos um ótimo reposicionamento das comissuras nos dois pacientes, com excelente resultado estético. CONCLUSÃO: A técnica utilizada é de fácil reprodutibilidade e corrige a macrostomia estética e funcionalmente.

INTRODUCTION: The incidence of craniofacial microsomia is 1 in 5600 live births. This is the second most common craniofacial anomaly after cleft lip and palate. Tessier cleft 7 is associated with 17% to 62% of cases of hemifacial microsomia. It begins on the labial commissure and may extend to the pre-auricular capillary line. Deformities of the external ear range from excessive pre-auricular skin to complete absence of the ear. Commissuroplasty is indicated in patients with macrostomia or true lateral facial cleft. The objective is to present two cases of macrostomia and perform a review of related literature. METHODS: In this study, we describe two cases of macrostomia treated with mucous flaps and zetaplasty. RESULTS: We obtained optimal repositioning of labial commissures in two patients, with excellent aesthetic results. CONCLUSION: The technique used is easily reproducible, and aesthetically and functionally corrects macrostomia.

Evalution of triangular flap combined orbicularisoris muscles anatomical reduction for repairing macrostomia / 局解手术学杂志

Obstract:Objective To explore a more short and effective surgical treatment for macrostomia. Methods From August 2010 to July 2013,the data of 15 patients with macrostomia were collected. Macrostomia were treated by triangular flap combined orbicularis oris anatomi-cal aeduction. The surgical effect was observed. Results Fifteen cases were treated with satisfactory static and dynamic results. Conclusion The method for macrostomia correction was success,which has the advantange of minimal visible scar with satisfying results in both esthetics and functional aspects.

Alteration in Surgical Technique of Tessier Classification Number 7 Cleft

PURPOSE: A Tessier classification number 7 cleft is an uncommon malformation that results from a failure of mesenchymal fusion within the maxillary and mandibular prominences of the 1st pharyngeal arch. Many operative techniques of the number 7 cleft repair have been proposed to restore function and improve aesthetics. Fifteen patients underwent repair of a number 7 cleft over 13 years by a modification of the surgical Technique, and an appraisal of the operative outcome is reported herein. METHODS: A retrospective review was conducted involving 15 patients with number 7 clefts who underwent surgery from 1996 to 2009. The changes in surgical technique included skin closure, attachment of the orbicularis oris muscle, and position of the repaired commissure; the changes were analysed with a review of the medical records and the outcomes of surgery were analysed via photographs. Specifically, the technique of skin closure was changed from the a Z-plasty to a linear closure, the orbicularis oris muscle overlapped attachment was replaced by a side-to-side approximation with horizontal mattress sutures, and the position of the repaired commissure was changed from 1mm laterally to 1mm medially in reference to the non-cleft side. RESULTS: A Z-plasty caused additional cutaneous scarring, an overlapped attachment of the orbicularis oris muscle caused a thick oral commissure, and the repaired commissure migrated to the lateral side, so a 1mm, laterally-positioned commissure caused asymmetry. The altered procedure included a linear skin closure, a side-to-side orbicularis oris muscle approximation, and a 1mm, medially-positioned commissure, which together resulted in a good outcome. CONCLUSION: The altered procedure for repair of a number 7 cleft as described herein, yields a short scar, no functional problems with the orbicularis oris muscle, a thin oral commissure, and symmetry of the repaired commissure.

Fisura tipo 7 de Tessier: presentación de un caso / Type 7 fissure of Tessier: a case presentation

Fundamento: la fisura tipo 7 de Tessier es una rara deformidad congénita que puede presentarse con diversos grados de severidad; de forma más frecuente unilateral e incompleta. Objetivo: reportar el primer paciente en Cuba con una fisura tipo 7 de Tessier bilateral de considerable severidad. Caso clínico: se describe un paciente gemelar, sexo femenino, raza blanca; nacido el diez de febrero de dos mil diez en el Hospital Universitario Ginebscostétrico de Camagüey, con una malformación severa de la cara y un peso de 1784gr. Se revisó la historia clínica neonatal y pediátrica de la paciente así como los artículos más recientes en base de datos computarizada que abordaron los siguientes tópicos: fisura tipo 7 de Tessier, fisura facial transversa y macrostoma bilateral. Discusión: luego de la revisión bibliográfica se encontró, que solo se han reportado hasta el año dos mil ocho noventa casos de macrostomía congénita bilateral, en nuestro país no se documenta sobre esta deformidad. Se presenta en el artículo un caso diagnosticado en el Hospital Materno de Camagüey con una severa fisura tipo siete de Tessier asociada a un paladar blando fisurado y una hipoplasia con retrusión mandibular, que fallece a los setenta y dos días de nacido, se discuten algunos elementos en su diagnóstico y tratamiento para casos futuros. Conclusiones: se concluye que este es el primer reporte en Cuba con una fisura tipo siete de Tessier de severa magnitud.

Background: type 7 fissure of Tessier is a strange congenital deformity that may be presented with diverse degrees of severity; in a unilateral and incomplete most frequent way. Objective: to report the first patient in Cuba with a bilateral type 7 fissure of Tessier of considerable severity. Clinical case: it is described a gemellary, female sex, white race patient; born on February 10th 2010 at the Maternal Hospital of Camagüey with a severe malformation of the face and a weight of 1784g. The neonatal clinical and pediatric history of the patient was reviewed as well as the most recent articles in on-line database dealt with the following topics: type 7 fissure of Tessier, transverse facial cleft and bilateral macrostomia. Discussion: after the revision was found that have been reported until the year 2008 just 90 cases of bilateral congenital macrostomia and in our country it is not documented on this deformity. A patient diagnosed at the Maternal Hospital of Camagüey with a severe type 7 fissure of Tessier associated to a fissured soft palate and a hypoplasia with mandibular retrusion that dies to the 72 days of been born and some elements in her diagnosis and treatment to further cases are discussed. Conclusions: it is concluded that this is the first report in Cuba with a type 7 fissure of Tessier with such a severe magnitude.

Surgical Considerations and Refinements for Macrostomia Repair

Macrostomia, or lateral facial cleft, is a rare congenital deformity that occurs alone or in combination with other anomalies as a result of a failure of proper fusion of the maxillary and mandibular processes during the fourth week of embryonic life. Although many surgical techniques have been suggested to correct this deformity, the procedures are controversial and no gold standard has yet been established. The purpose of these procedures includes formation of symmetric commissure, restoration of the abnormally positioned orbicularis oris muscles, and an inconspicuous scar. A natural-looking oral commissure is not easily achieved because the commissure is not just a corner but a continuous vermilion web. The purpose of this study is to achieve a more natural-looking commissure using natural anatomical landmarks different from other studies and to divide three anatomical units of the commissure for the proportional surgical repair of congenital macrostomia. Surgical methods include commissuroplasty using mucosal triangular flap, myoplasty of the disarranged orbicularis oris muscle and closure of the cheek cleft with a small Z-plasty. From March, 1999 to Feb, 2003, a total of 12 patients(4 males, 8 females) with congenital macrostomia have been operated. We obtained satisfactory functional and esthetic outcomes in all patients by using these techniques after a long period follow-up. We think the most important aspect of macrostomia repair is a proportional anatomical repair using natural landmarks.

Surgical Correction of the Macrostomia

Macrostomia, also called a transverse or lateral facial cleft, is a relatively rare malformation. Although many surgical procedures have been introduced, and no gold standard has yet been established. Moreover, most papers published in Korea were based on the results of the research conducted on the very limited number of patients, and for this reason its findings do not offer sufficient clinical reliability. We devised a modified commissuroplasty as follows: First, new commissure was placed 1 or 2mm inside when compared with the opposite side so that the commissure may not look longer than usual because of the scar on the side. Second, z-plasty of about 5mm was performed on the nasolabial fold to prevent the displacement of the new commissure on its lower part and avoid a continuation of a scar with the medial flap placed upward. We treated 32 cases of macrostomia from August 1, 1998 to July 1, 2002. We obtained relatively satisfactory clinical results by using this modified commissuroplasty. Based on our experience, we intend to present a clinical analysis and an operation technique of our own derived from the classic commissuroplasty, so that we may contribute to the diagnosis and treatment of the patients in the future.

Surgical Correction of Macrostomia

Congenital macrostomia is a result of defective union between the mandibular and maxillary processes and it is a rare deformity seen in every 100 to 300 facial clefts. Ohnizuka1`classified macrostomia into two groups as congenital and posttraumatic. We experienced two cases of acquired macrostomia due to NOMA sequelae(58/F:Lt & 51/F:Rt) and one case of congenital macrostomia (3 months/M:Rt). Many plastic surgeons have developed surgical procedures for repair of this congenital macrostomia. Among them, McCarthy6,11 described the classic commissuroplasty. We could repaired 1 case of congenital macrostomia and two cases of acquired macrostomia due to NOMA sequelae using modified technique of McCarthy,s classic commissuroplasty. McCarthy described new oral commissure 2-3mm laterally for prevention of postoperative contraction, orbicularis oris muscle transposition to restore labial function and a z- plasty cutaneous closure. But some author raise an objection to new oral commissure 2-3mm laterally, and they made new oral commissure at same distance of opposite side normal commissure. And so, we designed the new oral commissure moved 1mm laterally comparing to original commissuroplasty in a congenital case for the prevention of displacement. In cases of acquired macrostomia due to NOMA sequelae, we reconstructed new oral commissure like congenital case, moved 1mm laterally. Orbicularis oris muscle transposition could not be possible because of destruction of muscle, adhesion and atrophy. And so we dissected muscle and just sutured side by side. Acquired macrostomia following NOMA sequelae manifsted facial deformity variably, and reconstruction of the facial deformity is difficult by using simple approach. Other variable reconstructive procedures were needed with commissuroplasty as like Washio flap, rotation advancement flap, bone graft and free radial forarm flap, etc. Postoperative results were relatively good. We propose that macrostomia due to NOMA sequelae must add to Ohnizuka classification of acquired macrostomia.