RESUMO
Ablepharon-macrostomia syndrome is a rare disorder characterized by TWIST2 mutations and anterior lamellar dysgenesis. Timely intervention is critical to prevent exposure keratopathy, corneal ulceration, and permanent vision loss. We report a novel approach to multiplanar eyelid reconstruction in ablepharon-macrostomia syndrome involving use of a modified reverse hatchet flap in 1 lower eyelid along with division at the eyelid margin, recession of the eyelid retractors in conjunction with preputial skin grafting for anterior lamellar restoration in the other 3 eyelids.
Assuntos
Blefaroplastia , Anormalidades do Olho , Pálpebras , Macrostomia , Retalhos Cirúrgicos , Humanos , Macrostomia/cirurgia , Pálpebras/cirurgia , Pálpebras/anormalidades , Anormalidades do Olho/cirurgia , Blefaroplastia/métodos , Masculino , Anormalidades Múltiplas/cirurgia , Feminino , Procedimentos de Cirurgia Plástica/métodosRESUMO
Barber-Say syndrome (BSS) is a rare congenital ectodermal dysplasia with few cases reported in the literature. We describe a 9-year-old boy with congenital generalized hypertrichosis and multiple rhabdomyomatous mesenchymal hamartomas (RMHs) on his nose and periocular region. Next-generation sequencing, performed in DNA from a blood sample, and RMH tissue, revealed a pathogenic variant in the TWIST2 gene, which was not detected in a salivary sample of the patient, nor in his parents. Therefore, we consider this variant as de novo mosaicism. To our knowledge, this is the first case of multiple RMHs associated with BSS.
Assuntos
Anormalidades Múltiplas , Doenças Palpebrais , Hamartoma , Hipertelorismo , Hipertricose , Macrostomia , Anormalidades da Pele , Masculino , Humanos , Criança , Hipertricose/genética , Hipertricose/congênito , Anormalidades Múltiplas/genética , Hirsutismo/genética , Hamartoma/complicações , Hamartoma/diagnóstico , Hamartoma/genéticaRESUMO
AIM: Macrostomia, or lateral cleft lip, which is known as Tessier cleft type 7, is one of the rarest facial anomalies. The purpose of this review is to describe the main characteristics, epidemiology, aetiology and treatment of this anomaly. METHODS: We present an overview of surgical techniques as well as a review of all 36 cases of bilateral asyndromic macrostomia reported to this da in the literature. Furthermore, we report the case of a 4-month male infant with bilateral transverse cleft lip and analyse the treatment decision and the procedure itself. CONCLUSION: Early diagnosis and surgical intervention are crucial in treating children with these malformations. Adequate timely reconstruction plays a main role in both physical and psychological rehabilitation.
Assuntos
Fenda Labial , Macrostomia , Criança , Lactente , Humanos , Masculino , Macrostomia/cirurgiaRESUMO
ABSTRACT: Macrostomia is arare congenital craniofacial deformity that influences the appearance and function of patients. In most cases, it coexists with craniomaxillofacial deformities such as craniofacial microsomia (CFM). This study aimed to analyze the relationship between macrostomia and mandibular hypoplasia so as to facilitate the early detection and diagnosis of children with CFM. It included 236 patients diagnosed with CFM. All underwent facial expression analysis, multi-angle photography, computed tomography, and three-dimensional reconstruction of soft and hard tissues. The clinical classification was performed according to OMENS+. Spearman (rank) correlation analysis was used to analyze the relationship between the severity of macrostomia (C1 and C2) and the degree of mandibular involvement (M1, M2a, M2b, and M3), and the correlation among the components of OMENS+. Of the 80 cases of macrostomia (34%) reported, 72 cases (90%) were C1 and 8 (10%) were C2. The analysis of OMENS+ revealed significant correlations among OMENS+ components. Also, a high correlation was observed between macrostomia (C) and hypoplasia of the mandible (M) ( P â=â0.002). Macrostomia was closely related to mandibular hypoplasia among children diagnosed with CFM. These results suggested that patients with macrostomia, who might also have craniofacial malformations caused by other first branchial arch anomalies, should be comprehensively physically examined for other syndromes.
Assuntos
Síndrome de Goldenhar , Macrostomia , Micrognatismo , Criança , China/epidemiologia , Síndrome de Goldenhar/complicações , Síndrome de Goldenhar/diagnóstico , Humanos , Macrostomia/diagnóstico , Mandíbula/anormalidades , Mandíbula/diagnóstico por imagemRESUMO
Background: Most of the characteristic facial features of patients with unilateral macrostomia are attributed to the malformation of commissure muscles. This study aimed to evaluate a modified surgical treatment for such patients that focuses on both appearance and symmetry. Methods: Twenty-seven patients with macrostomia underwent surgery using the proposed method. Facial measurements were analyzed preoperatively, 1 week postoperatively, and during a long-term follow-up using statistical software. Results: The overall length ratio of the healthy and affected sides of the vermillion preoperatively, 1 week postoperatively, and during the long-term follow-up was 1:1.61, 1:1.01, and 1:1.00, respectively (all, p > 0.05). The overall angle between the pupil line and the commissure line was 9.90° preoperatively, 2.34° postoperatively, and 3.31° during the long-term follow-up. There was no statistically significant difference in the covering relation of the upper and lower lips between the affected and healthy sides postoperatively (p > 0.05). 3dMD Dynamic Surface Imaging System (3dMD, Atlanta, GA, USA) showed a symmetrical three-dimensional commissure structure during long-term follow-up measurements. Conclusions: The symmetry and appearance of patients with macrostomia commissure significantly improved following this modified surgical method.
Assuntos
Macrostomia , Procedimentos de Cirurgia Plástica , Humanos , Lábio/cirurgia , Macrostomia/cirurgia , Músculos/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Retalhos Cirúrgicos/cirurgiaRESUMO
Ablepharon-macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are congenital ectodermal dysplasias associated with mutations in the TWIST2 gene. Among the ophthalmic anomalies that occur in these syndromes, underdevelopment of the anterior lamella of the eyelid is a defining feature. Reports of mosaic expression of TWIST2 mutations are extremely rare, with only five confirmed or suspected cases described to date. Mosaic expression of TWIST2 variants is correlated with a less severe phenotype than that reported for the typical expression of TWIST2 variants associated with BSS or AMS. Abnormal development of the anterior lamella appears to be a common feature in all cases of AMS with mosaic expression. Here, we describe the phenotype of a patient with mosaic expression of a TWIST2 mutation that is typically associated with AMS. We additionally describe the surgical approach employed in the treatment of this patient.
Assuntos
Macrostomia , Humanos , Macrostomia/complicações , Macrostomia/genética , Macrostomia/cirurgia , Mutação , Fenótipo , Proteínas Repressoras/genética , Proteína 1 Relacionada a Twist/genéticaRESUMO
BACKGROUND: Macrostomia or lateral cleft lip is a rare congenital deformity. In this article we describe a surgical technique of macrostomia repair developed. The objective of this article is to assess the results of our surgical technique and to validate a method for macrostomia surgical result evaluation. METHODS: We included retrospectively patients with unilateral and bilateral macrostomia, operated from 1995 to 2014 in our department. First part of the study was a satisfaction questionnaire completed by patients. The second part was subjective evaluation of frontal photography (closed mouth, wide open and smiling) by surgeons and lay people with a questionnaire. Both group completed a second questionnaire within one to six months. RESULTS: Eighteen patients answered the questionnaire. The satisfaction for all patients were considered as very good for 38.9% (n = 7) of patients and good for 44.4% (n = 8). 21 patients were photographed, 5 isolated macrostomia, 13 macrostomia with minor facial asymmetry and 3 with a major asymmetry. Surgeons evaluated the result as very good for isolated macrostomia and good for syndromic macrostomia. Layperson evaluated the result as good in isolated macrostomia and macrostomia with minor facial asymmetry and average with major facial asymmetry. P < 0.0001. The evolution of the results between medical and non-medical assessors in our two questionnaires, were non-significant. CONCLUSION: In this study, we propose a new methodology to assess commissuroplasty surgical results, with a 3 type of evaluator: patients, surgeons and laypeople. We present a simple surgical technique, that allows good results in syndromic and isolated macrostomia.
Assuntos
Fenda Labial , Macrostomia , Estética , Assimetria Facial , Humanos , Macrostomia/cirurgia , Estudos RetrospectivosRESUMO
Ablepharon macrostomia syndrome (AMS) is an extremely rare congenital ectodermal dysplastic disease characterised by craniofacial, skin, skeletal and genital abnormalities. Very few cases have been reported since the first case report in 1977. We report the case of a 6-day-old male delivered to unrelated parents. He was dysmorphic with absent eyelids, eyelashes and eyebrows, large fish-shaped mouth, hyperpigmented thick anterior abdominal wall, absent prepuce amongst other features. Skull X-ray showed poorly developed zygomatic bones. The patient is being managed as a case of AMS in a multidisciplinary fashion. There is no agreement on the mode of inheritance, but authors have suggested autosomal recessive, autosomal dominant, sporadic and familial occurrences. The absence of the prepuce and hyperpigmentation of the anterior abdominal wall as was seen in our patient has not been reported. More case reports are needed to delineate the spectrum of clinical features in AMS.
Assuntos
Anormalidades Múltiplas , Anormalidades do Olho , Macrostomia , Anormalidades Múltiplas/diagnóstico , Humanos , Macrostomia/diagnóstico por imagem , Macrostomia/cirurgia , Masculino , NigériaRESUMO
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.
Assuntos
Humanos , Adulto , Microtia Congênita , Fissura , MacrostomiaRESUMO
OBJECTIVE: The authors present findings and techniques to address hemipalatal discrepancy in patients with Tessier 7 cleft and associated cleft palate during cleft palatoplasty. DESIGN: The authors report 2 cases of pediatric patients with Tessier 7 facial clefts and associated cleft palate. One patient presents on the broader oculo-auriculo-vertebral spectrum and the other is has isolated Tessier cleft 7. Additionally, a PubMed search was performed using the MeSH terms "tessier 7," "cleft palate", "macrostomia," "tessier 7 AND cleft palate," "macrostomia AND cleft palate," AND "hemipalatal discrepancy." All relevant literature was identified and underwent full review for qualitative analysis. RESULTS: Two patients met criteria for inclusion in this article. The surgical techniques utilized to mitigate the hemipalatal length discrepancy are detailed, and intraoperative photographs are provided. The results of the literature review are also presented. Tessier 7 craniofacial cleft and palatal clefts, when occurring in combination, is noted to result in discrepant hemipalatal length with short maxillary palate length on the affected side as well hypoplasia of the associated speech musculature. The postoperative palatal length after palatoplasty in both patients was longer than the preoperative hypoplastic palatal length. CONCLUSIONS: When occurring in combination, Tessier 7 craniofacial cleft and concomitant palatal cleft results in discrepant hemipalatal length, and deficiency of the bony maxillary palatal shelves, and associated speech musculature and soft tissues. The techniques described in this article may assist in maximizing postoperative palatal length.
Assuntos
Fissura Palatina , Macrostomia , Procedimentos de Cirurgia Plástica , Criança , Fissura Palatina/diagnóstico por imagem , Fissura Palatina/cirurgia , Humanos , Macrostomia/cirurgia , MaxilaRESUMO
ABSTRACT: In principle, reconstruction in macrostomia requires symmetry and accurate positioning of the newly reconstructed commissure. The proper position of the new commissure can be determined by several methods. In the determination of the new commissure of bilateral cases, generally the average length of the lips or the distance from anatomical landmarks other than the lips, such as the pupils or tragi, has been used. A new approach was reported by Tse et al in 2018: the anatomic approximation approach. Macrostomia repair refers to anatomical landmarks in the lips to determine the new commissure. The authors performed surgery using this anatomic approximation approach for bilateral macrostomia and achieved the good results.
Assuntos
Macrostomia , Cabelo , Humanos , Lábio/cirurgia , Pupila , Couro CabeludoRESUMO
ABSTRACT: Ablepharon macrostomia syndrome (AMS) is a rare condition with fewer than 20 cases being reported in the literature. Features of AMS include ablepharon, hypertelorism, macrostomia, dysplastic ears, sparse body hair, and ambiguous genitalia. The most significant phenotypic presentation is rudimentary eyelids resulting in exposure keratopathy, corneal abrasions, and potential blindness. Numerous methods including primary full thickness skin grafting, conjunctival sutures followed by full thickness skin grafting, and a combination of skin grafting and local flaps have been described for definitive eyelid reconstruction in these patients. The authors report the first case of autologous rib cartilage grafting and fat grafting for lower eyelid reconstruction in a patient with AMS.
Assuntos
Cartilagem Costal , Macrostomia , Anormalidades Múltiplas , Tecido Adiposo , Anormalidades do Olho , Humanos , Macrostomia/cirurgia , CostelasRESUMO
ABSTRACT: Unilateral oral macrostomia can present in isolation or conjunction with other craniofacial abnormalities. Common associations include cartilaginous tags and accessory tragi, while the facial nerve is rarely involved. Our work is the first of its kind to report depressor anguli oris paralysis in the setting of oral macrostomia. The authors present 2 cases of unilateral oral macrostomia, with and without contralateral pre-operative depressor anguli oris paralysis, to highlight this often overlooked finding. Furthermore, these cases illustrate the impact of depressor anguli oris paralysis on postoperative outcomes and patient expectations. Depressor anguli oris function can be detected preoperatively and therefore should be weaved into surgical decision-making and used to manage expectations for symmetric facial animation following repair. Further work is required to evaluate the long-term benefits of electromyography and botulinum toxin injections as diagnostic and therapeutic modalities for DAO paralysis.
Assuntos
Paralisia Facial , Macrostomia , Face , Músculos Faciais , Nervo Facial , HumanosRESUMO
BACKGROUND: Zebrafish is a model organism widely used for the understanding of gene function, including the fundamental basis of human disease, enabled by the presence in its genome of a high number of orthologs to human genes. CRISPR/Cas9 and next-generation gene-editing techniques using cytidine deaminase fused with Cas9 nickase provide fast and efficient tools able to induce sequence-specific single base mutations in various organisms and have also been used to generate genetically modified zebrafish for modeling pathogenic mutations. However, the editing efficiency in zebrafish of currently available base editors is lower than other model organisms, frequently inducing indel formation, which limits the applicability of these tools and calls for the search of more accurate and efficient editors. RESULTS: Here, we generated a new base editor (zAncBE4max) with a length of 5560 bp following a strategy based on the optimization of codon preference in zebrafish. Our new editor effectively created C-to-T base substitution while maintaining a high product purity at multiple target sites. Moreover, zAncBE4max successfully generated the Twist2 p.E78K mutation in zebrafish, recapitulating pathological features of human ablepharon macrostomia syndrome (AMS). CONCLUSIONS: Overall, the zAncBE4max system provides a promising tool to perform efficient base editing in zebrafish and enhances its capacity to precisely model human diseases.
Assuntos
Edição de Genes/instrumentação , Mutação , Peixe-Zebra/genética , Anormalidades Múltiplas/genética , Animais , Sequência de Bases , Anormalidades do Olho/genética , Humanos , Macrostomia/genéticaRESUMO
PURPOSE: To describe the late results of the placement of skin graft over conjunctiva-Müller muscle complex in 3 patients with ablepharon-macrostomia syndrome (AMS) and to review the procedures used to manage the upper eyelids in AMS. METHODS: The authors searched the Pubmed database for all articles that used the term "ablepharon-macrostomia syndrome" in any field. Data collection included description of eyelid changes, age at surgery, status of the cornea before surgery, type of eyelid repair, and final outcome. Two previously reported siblings were reevaluated 10 and 15 years after a single reconstructive operation. A new case from Peru is also described. RESULTS: Only 15 patients with AMS have been described in 12 articles. In 60% of the cases, the lids were described as absent. The surgical modalities employed to reconstruct the upper eyelids were quite variable, including local flaps, lid sharing procedures, and even a masquerade flap. At long-term follow-up, all 3 cases who underwent upper eyelid lengthening with full thickness skin grafts placed over Müller muscle had clear corneas with a small amount of lagophthalmos. CONCLUSIONS: The lids in AMS are not absent and should not be managed with complex reconstructive techniques. Full thickness skin grafts placed over the inner aspect of the palpebral conjunctiva allow permanent eye protection.The upper eyelids in ablepharon-macrostomia syndrome can be permanently lengthened with full thickness skin grafts over Müller muscle.
Assuntos
Anormalidades Múltiplas , Anormalidades do Olho , Macrostomia , Procedimentos de Cirurgia Plástica , Anormalidades Múltiplas/cirurgia , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/cirurgia , Pálpebras/cirurgia , Humanos , Macrostomia/cirurgiaRESUMO
OBJECTIVE: Outcomes from surgical repair of transverse facial cleft (macrostomia) may not be very satisfactory when conventional methods are used to position the oral commissure to be repaired. To improve patient outcomes, we developed a modified oral commissure positioning and reconstruction method for transverse facial cleft repair. METHOD: In the modified positioning method, the oral commissure at the abnormal side was positioned precisely and reconstructed by a combination of two conventional methods, namely, the distance measurement method and the anatomical charateristics method. The function of the orbicularis oris muscle was preserved. Postoperative surgical scar score and oral commissure symmetry score were determined and compared between patients and healthy controls. The scores ranged from one to five, with one representing the best and five indicating the worst results. RESULTS: Nine patients aged 4-31 months (7 girls) underwent the modified transverse facial cleft repair surgery. All the patients had unilateral transverse facial cleft with or without microsomia and/or complete cleft lip. The patients were followed up for one to five years. Although average surgical scar scores of patients (close-mouth: 1.8 ± 0.8, range: 1.0-2.8; open-mouth: 1.8 ± 0.9, range 1.0-3.6) remained significantly higher (P < 0.05) than those of the healthy controls (Nâ¯=â¯8, close-mouth 1.1 ± 0.4, range: 1.0-1.4, open-mouth: 1.1 ± 0.3, range: 1.0-1.2) 6 months after the surgery, their average close-mouth oral commissure symmetry score (1.9 ± 0.7, range: 1.6-2.8) was similar (Pâ¯=â¯0.381) to those of the healthy controls (1.8 ± 0.8, range: 1.0-2.6). CONCLUSIONS: The modified procedure appears to lead to promising long-term benefit on restoring oral commissure symmetry.
Assuntos
Macrostomia/cirurgia , Boca/cirurgia , Estudos de Casos e Controles , Pré-Escolar , Cicatriz/etiologia , Feminino , Humanos , Lactente , Masculino , Complicações Pós-Operatórias/etiologia , Estudos Retrospectivos , Técnicas de Sutura , Resultado do TratamentoRESUMO
BACKGROUND: Ablepharon macrostomia syndrome (AMS) is a rare congenital malformation disorder caused by the autosomal-dominant mutations in gene TWIST2. Patients affected by the disease present abnormalities in ectoderm-derived structures mainly consisting in major facial dysmorphic features and rarely in visceral anomalies. The only laryngo-tracheal defect reported is malacia, with no reference to any anatomical stenosis. We describe a unique case of laryngo-tracheal stenosis in a woman, with genetically confirmed AMS currently followed at our Department. CASE PRESENTATION: A 37-year-old Caucasian woman was admitted to the intensive care unit for acute dyspnea that required orotracheal intubation followed by tracheostomy. The bronchoscopy revealed abnormal tracheal tissue at the level of the cricoid and the first three tracheal rings reducing airway caliber by 80% (grade III according to the Cotton-Meyer classification). Treatment of the stenosis by means of temporary tracheostomy and corticosteroids therapy resulted in airway patency restoration and patient's return to her normal activities. Bronchoscopy at four and five months showed disappearance of the abnormal tissue and a residual anatomical laryngo-tracheal stenosis of about 20% (grade I according to the Cotton-Meyer classification) of the normal airway caliber. CONCLUSIONS: To our knowledge, this is the first patient affected by AMS presenting with laryngo-tracheal stenosis.