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.

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)

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.

Staged reconstruction of a tessier number 4 facial cleft

Tessier number 4 cleft is an extremely rare facial cleft. We report a case of Tessier number 4 facial cleft recently managed in our center. The approach to facial clefts is multi-disciplinary and may differ between centers. Multiple surgical interventions are required as well as a good psychosocial support. The child underwent a craniofacial reconstruction at 6 months of age, followed by a left macrostomia repair 9 months later and transcranial correction of the right orbital dystopia with eyelid reconstruction

A case series of Tessier 3, 4, 7 and combined 4, 7 craniofacial clefts

@#<p style="text-align: justify;"><strong>OBJECTIVE:</strong> To report a case series of Tessier 3, 4, 7 and combined 4,7 craniofacial clefts, their clinical presentations, surgical approaches and outcomes in light of the current literature.<br /><strong>METHODS:</strong><br /><strong>Design:</strong> Case series<br /><strong>Setting:</strong> Tertiary Government Hospital<br /><strong>Subjects:</strong> Five patients<br /><strong>RESULTS:</strong> Five  patients aged 3 to 14-years-old with Tessier 3, 4 (2  cases), 7  and combined 4,7 were included in this study: Tessier 3 - medial orbitomaxillary cleft extending through the bony skeleton traversing obliquely across the lacrimal groove, Tessier 4 - median orbitomaxillary cleft traversing  vertically  through  the  inferior  eyelid,  infraorbital rim and  orbital  floor extending  to the lip between the philtral crest and the oral commissure  (2 cases), Tessier 7 - macrostomia and cleft oral commissure and combined Tessier 4 and 7, combining features described above. Four underwent 2- or 3-stage surgeries while one declined.<br /><strong>CONCLUSION:</strong> Five  craniofacial  clefts  were  presented.  Because  of  the  varying  patterns of craniofacial  deformities,  a  series of surgical  procedures,  tailor-made  for  each  individual  were performed  on  four. Otolaryngologists who perform maxillofacial and cosmetic surgery  should have good background knowledge about craniofacial defects and be familiar with the  surgical approaches at their disposal to yield favorable results that are appropriate to their local contexts.</p>

A Novel Insertion in Exon 23 of the TCOF1 Gene in a Newborn Infant with Treacher Collins Syndrome

Treacher Collins syndrome (TCS) is the most common and well known mandibulofacial dysostosis with characteristic clinical features including downward slanting of palpebral fissures, coloboma of the lower eyelid, hypoplastic zygomatic arches, micrognathia, macrostomia, microtia, and other deformities of the ears. TCS is caused by mutations in at least 3 genes involved in pre-rRNA transcription: TCOF1, POLR1D and POLR1C. We experienced a 1-day-old female infant with characteristic clinical features of TCS. A novel, heterozygotic mutation within the TCOF1 gene (c.3874_3875insG, p.Ala1292Glyfs*30) was identified to cause a premature stop codon.

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.

Emergency Airway Management using a Laryngeal Mask Airway (LMA) Following Extubation in an Infant with a Congenital Facial Anomaly: A case report / 대한마취과학회지

A female infant (4 months-old) with Goldenhar syndrome was scheduled for cheiloplasty to treat a transverse facial cleft and congenital macrostomia. There was no past history of difficulty during feeding or airway obstruction. Following induction of anesthesia using an inhalational anesthetic technique, conventional oro-tracheal intubation was possible. However, following extubation of the endotracheal tube she developed an upper airway obstruction. Her lungs could not be ventilated using a facial mask and oxygen saturation was decreased. A #1 laryngeal mask airway (LMA) was inserted immediately, which allowed us to ventilate her lungs and restore the oxygen saturation. Here we describe the use of a LMA for emergency airway management in an infant.

vrk1 gene mutation test in two Chinese pedigrees of the first and second branchial arch syndrome / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To explore the role of vrk1 gene in two Chinese pedigrees of the first and second branchial arch syndrome.@*METHOD@#Sixty members in 2 Chinese pedigrees were recruited. The exon 2 -13 were analyzed by polymerase chain reaction and direct sequencing.@*RESULT@#We found a new SNP in proband of Shandong pedigree.@*CONCLUSION@#vrk1 gene mutation can be excluded in 2 Chinese pedigrees of the first and second branchial arch syndrome.

Isolated bilateral macrostomia : case series and review of literature

Macrostomia is a rare congenital anomaly of the face; especially the isolated type. This report aims to document our experience inmanaging this rare pathology. All consecutive cases of children managed for isolated bilateral macrostomia at the Jos University Teaching Hospital were retrospectively reviewed. Five patients; aged between 10 weeks and 30 months were managed. They were all females and presented with bilateral symmetrical transverse lateral facial cleft (macrostomia). There were no associated anomalies; and no family history of facial clefts or any other congenital anomaly. All the patients had repair of the defect under a general anaesthesia with satisfactory outcome. Macrostomia can present as an isolated entity. The final outcome of the repair depends on the technique of repair; function of the orbicularis oris muscle and the quality of scar

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.

Periareolar Reduction Mammoplasty

The goals of the reduction mammoplasty are to reduce the volume of the breast, to create aesthetic shape that is stable over time, to maintain blood supply and innervation to the nipple-areolar complex, and to make fine limited scars. There are 3 rationales in our reduction mammoplasty. To reduce the scar, we perform the periareolar incision. To make effective reduction of the breast volume, and to preserve blood supply and innervation to the nipple-areolar complex, we use a central or an inferior pedicle technique. To prevent areolar widening, we use a purse-string suture. We performed the periareolar reduction mammoplasty to 36 breasts in 18 patients from Jul. 1998 to Jun. 2000. The mean follow up period was 8 months. The mean age was 41 and mean resection amount was 420 gm per breast. Most patients satisfied with their fine periareolar scars, adequate size of breasts and the innervation of the nipple-areolar complex. We applied this procedure to all kinds of macrostomia. The greatest advantage of the periareolar reduction mammoplasty is the inconspicuous limited scar. Other advantages over conventional technique include preservation of sensitivity to the nipple-areolar complex and shorter operative time. As disadvantages, 10 breasts(28%) showed areolar widening. In 8 of 10 breasts with areolar widening, purse-string suture was not applied in the skin flap margin of the outer circle and reoperation was executed to reduce the areolar size by excision of the widened areola. The application of the purse-string suture was carried out in 6 breasts. Two breasts with purse-string suture showed areolar widening possibly due to loosening of the purse-string suture knot. There were persistent periareolar wrinkles in 4 breasts and poor sensitivity to the nipple-areolar complex in 6 breasts in which more than 500 gm of breast tissue per breast was resected. Periareolar reduction mammoplasty is optimal for patients who require reduction of lesser than 500 grams per breast. In the severe macromastia with or without ptosis, inverted T-incision is preferable to the periareolar incision, and periareolar incision can be modified by adding wedge resection of the outer excess skin flap inferiorly which results in a periareolar and vertical scar below the nipple-areolar complex.

Barber-Say syndrome: further delineation of the clinical spectrum

Apresentamos uma paciente de 14 anos, de sexo feminino, portadora de um quadro de múltiplas anomalias congênitas: hipertelorismo, telecanto, macrostomia, agenesia da hélice em ambos os pavilhöes auriculares, pele grossa e redundante e hirsutismo severo, que corresponde ao 5º caso reportado de síndrome de Barber-Say. Esta paciente tem praticamente o mesmo fenótipo que a paciente descrita por Martínez Santana et al. (Am. J. Med. Genet. 47:20-23, 1992), incluindo o mesmo padräo dermatoglífico que näo havia sido descrito até entäo.

Teratoma orofaríngeo congénito: revisión a propósito de un caso / Teratoma oropharyngeal: review of purpose of one case

Se presenta el caso de una recién nacida femenina que ingresa al Hospital de Niños "J.M. de Los Ríos" a los 24 días de vida, con tumoración orofaríngea que impedía oclusión bucal, aunado a hendidura palatina completa, pequeña tumoración pediculada en dorso lingual, macrostomía derecha, hipoplasia coanal izquierda y dos fístulas labiales inferiores. Se realiza TC y RMN, así como marcadores tumorales; se practica exéresis total de la masa, implantada en esfenoides, que confirma el diagnóstico clínico y radiológico de TERATOMA MADURO, con elementos de las tres capas germinales. Revisamos la literatura sobre teratoma orofaríngeo congénito, dado lo infrecuente de esta localización

Straight Line Closure for Macrostomia Repair

Macrostomia is a relatively rare malformation. There have been many surgical methods for the correction of macrostomia. The old method, a simple straight line closure , did not include reconstruction of the orbicularis oris muscle. Postoperatively, a depressed scar and severe contraction on the cheek were found, especially with animation. As a result, many authors have known that reconstruction of the orbicularis oris muscle was very important to avoid a depressed scar for the correction of macrostomia. The tendency toward lateral displacement of the reconstructed commissure has been attributed to linear scar contraction, and Z-plasty is advocated to prevent this deformity. However, we found that the Z-plasty scar may be conspicuous when the patient smiles. So we performed reconstruction of the orbicularis oris muscle to avoid a depressed scar, and straight line closure to avoid a conspicuous scar. In order to prevent linear scar contracture due to straight line closure, we overcorrected the new commissure. We treated 6 cases of macrostomia form May 1, 1996 to April 30, 1999 using straight line closure and reconstruction of the orbicularis oris muscle. Periods of follow-up were from 12 months to 35 months, with an average of 20,2 months. Every patient was analyzed clinically by ordinary scale method and anthropometrically by the ratio of abnormal distances to normal distances between cheilion and crista philtri. In 3 clinical assessments : symmetry of the commissure was excellent: degree of the scar at rest was good: and degree of depression with animation was excellent. The anthropometrical ratio was 1:1.05. Despite the fact that the linear scars were perpendicular to the minimal skin tension lines, the scars were inconspicuous. The muscle repair provided reconstruction to the modiolus and gave a natural appearance to the commissure, however it did not seem to provide sufficient bulkiness around the commissure. The straight line skin closure and repair of the orbicularis oris muscle provide effective functional and aesthetic reconstruction.

A clinical study on the tessier classification No.7 cleft patient

Tessier classification No. 7 cleft is a rare form of facial cleft, that is believed to be a fusional failure between the maxillary process and the mandibular process at the fetal stage. The synonyms of No. 7 cleft were lateral cleft lip and macrostomia. In Korea, only few clinical researches were reported and prolonged follow-up studies after surgery on No. 7 cleft were seldom reported. The significances of this study were clinical analysis of No. 7 cleft and to give basic information for diagnosis and treatment of No. 7 cleft. The author investigated 16 patients (10 males and 6 females) who had received corrective surgeries for No. 7 cleft in the Pusan National University Hospital from February. 1987 to April. 1997. The author examined pregnancy history, birth history, clinical manifestation, operative method and operative result through patient charts and interview. Periods of follow-up were from 4 months to 9 years and 11 months with average of 5 years. Among 1086 facial clefts, 16 cases were No. 7 clefts, which give the frequency of 1.5%. Among them 9 cases were right side and 6 cases were left side and 1 case was bilateral. As for acommpanying facial deformities, 9 cases had skin tags, 3 cases had hemifacial microsomia and 2 cases had incomplete cleft plates. As for acommpanying other region deformities, one case had spina bifida and the other case had dextrocardia. As for corrective surgeries, Z-plasty surgeries were chosen mostly. Medially, overcorrection was done at the oral commissure on cleft side during corrective surgery. When surveyed during followups, in 10 cases (62.5%), the patients and their parents replied very satisfied, and in 4 cases (25%), they replied satisfied. However, Only in one case (6.3%), the parent expressed dissatisfaction, and in another case, they were considered reoperation.

Surgical Correction of Rare Craniofacial Clefts

Facial clefts are uncommon congenital deformities in comparison to the clefts of the lip and palate. the clinical expression of the craniofacial clefts is highly variable. the face can be marred by a faint expression of the cleft or be disfigured by a full representation of the defect. the extent of the soft tissue and skeletal components is also variable, and they are seldom affected to an equal degree. Generally, discription of the clefts are based on the bony malformation, since the skeletal landmarks tend to be more constant. I report six cases of rare craniofacial clefts that I recently experienced. the soft tissue repair was accomplished with local flaps from cheek, eyelid and nose. Additional vertical length was obtained from the lower Z-plasty flaps in the sutures. the coloboma was corrected with local flaps and a cartilage graft, the depression of cheek with a dermofat graft, and the macrostomia with the repositioning of orbicularls oris muscle and a Z-plasty. the results were cosmetically acceptable.