OMENS+ Classification Correlations Analysis of Craniofacial Microsomia in China: The Relationship Between Macrostomia and Mandibular Hypoplasia.

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  = 0.002). 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.

Laryngo-tracheal stenosis in a woman with ablepharon macrostomia syndrome.

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.

Macrostomia: The defining feature of the oculo-auriculo-vertebral spectrum / Macrostomia: la característica definitoria del espectro oculo-auriculo-vertebral

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Surgical Alternative for Repair of Bilateral Macrostomia.

The transverse or lateral cleft is the second most common type of craniofacial cleft. The authors report a case of bilateral macrostomia in a male newborn and the authors present a refined method of Kaplan technique for correcting macrostomia. The authors' method is characterized by the creation of a single Z-plasty with the transposed central limb placed in the nasogenian crease.

Isolated Bilateral Macrostomia.

Macrostomia (Tessier's 7 cleft) is a rare congenital lip deformity. Macrostomia can occur unilateral or bilateral, isolated or associated with other syndromes. Isolated bilateral macrostomia is exceedingly rare with only a few cases reported to date. The authors report 6 cases of isolated bilateral macrostomia surgically repaired in 4-layered approaches. The traditional method was improved and the result obtained was satisfactory after longest follow-up of 3 years. The technique is easy to imitate, simple in design, aesthetically and functionally corrects the deformity.

Unilateral macrostomia in the newborn: a rare congenital anomaly of the oral commissure.

Macrostomia is a rare medical condition, defined as an enlargement of the mouth at the oral commissure. The incidence varies between 1 in 60 000 to 1 in 300 000 live births. Macrostomia is a form of a facial cleft. Macrostomia can present as a unilateral or bilateral anomaly with a partial or complete cleft. Associated anomalies of the surrounding bone, muscle and soft tissue can also be present with or without the presence of a syndrome. Macrostomia results in aesthetic disharmony and also in functional problems. In both cases surgery is the treatment of choice. In cases of macrostomia, additional investigations should be performed to rule out accompanying cardiac and renal anomalies and associated syndromes. A multidisciplinary approach and good collaboration between healthcare providers is essential for optimal care of these patients.

Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview.

Barber-Say syndrome (BSS) and Ablepharon-Macrostomia syndrome (AMS) are congenital malformation syndromes caused by heterozygous mutations in TWIST2. Here we provide a critical review of all patients published with these syndromes. We excluded several earlier reports due to misdiagnosis or insufficient data for reliable confirmation of the diagnosis. There remain 16 reliably diagnosed individuals with BSS and 16 with AMS. Major facial characteristics present in both entities, albeit often in differing frequencies, are excessive facial creases, hypertelorism, underdevelopment of the anterior part of the eyelids (anterior lamella), ectropion, broad nasal ridge and tip, thick and flaring alae nasi, protruding maxilla, wide mouth, thin upper vermillion, and attached ear lobes. In BSS a remarkable extension of the columella on the philtrum can be seen, and in both the medial parts of the cheeks bulge towards the corners of the mouth (cheek pads). Scalp hair is sparse in AMS only, but sparse eyebrows and eyelashes occur in both entities, and general hypertrichosis occurs in BSS. We compare these characteristics with those in Setleis syndrome which can also be caused by TWIST2 mutations. The resemblance between the three syndromes is considerable, and likely differences seem larger than they actually are due to insufficiently complete evaluation for all characteristics of the three entities in the past. It is likely that with time it can be concluded that BSS. AMS and Setleis syndrome form a continuum. © 2016 Wiley Periodicals, Inc.

Macrostomia: A Practical Guide for Plastic and Reconstructive Surgeons.

Macrostomia is a rare and debilitating congenital anomaly with incompletely understood etiopathogenesis. Despite the phenotypic variability in macrostomia, plastic surgeons should demonstrate competence in the diagnosis and management of this condition. The anatomy, embryology, classification, and clinical presentation of macrostomia are reviewed in this manuscript. A historical overview of surgical repair is presented that forms the basis for understanding modern techniques of repair. Finally, an effective method of macrostomia repair is presented along with review of 5-year results. It is our intent that this guide serve as a reference for plastic and reconstructive surgeons to accomplish safe, functional, and aesthetic macrostomia reconstruction.

Distinguishing Goldenhar Syndrome from Craniofacial Microsomia.

Goldenhar syndrome is characterized by the typical features of craniofacial microsomia (CFM) with the addition of epibulbar dermoids and vertebral anomalies. The aim of this study is to examine the objective differences between patients carrying a diagnosis of Goldenhar syndrome to those diagnosed with CFM. Thus, we performed an Institutional Review Board-approved retrospective chart review on all patients who presented with a diagnosis of CFM or Goldenhar syndrome from January 1990 to December 2012. Demographic, diagnosis, OMENS+ classification, accompanying diagnoses, and radiographic data were collected. For subjective analysis, subgroups were designed based on the diagnosis Goldenhar syndrome or CFM per history. For objective analysis, subgroups were designed based on the presence of epibulbar dermoids and/or vertebral anomalies. The cohorts were compared with respect to associated medical abnormalities and severity of CFM features. One hundred thirty eight patients met inclusion criteria. Epibulbar dermoids and vertebral anomalies were seen in 17% and 34% of the patients, respectively. Only 10 patients (7.2%) had both epibulbar dermoids and vertebral anomalies. The subjective "Goldenhar" group (N = 44, 32%) was found to have a higher percentage of bilaterally affected patients (P = 0.001), a more severe mandibular deformity (P = <0.001), a more severe soft tissue deformity (P = 0.01), and a higher incidence of macrostomia (P = 0.003). In the objective subgroup analysis, the only significant difference was found in the degree of soft tissue deficiency (P = 0.049). The diagnostic criteria of Goldenhar syndrome remain unclear, thereby making clinical use of the term "Goldenhar" inconsequential. Goldenhar syndrome is over diagnosed subjectively in patients who show more severe CFM features.

Clinical and oral findings of a patient with Simpson-Golabi-Behmel syndrome.

BACKGROUND: The Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth condition characterised by macrosomia, mental deficiency, large head, prominent skull sutures, midface deficiency, hypertelorism, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and limb abnormalities. The aim of this case report is to present clinical and oral findings of an 8-year-old boy who had been diagnosed with SGBS. CASE REPORT: This patient had supernumerary nipples on the right side, cubitus valgus webbed fingers, scoliosis, umbilical hernia, a coarse face, macrocephaly, hypertelorism, a short broad nose, a wide mouth, a straight facial profile and hearing loss. The patient also had macroglossia, diastemas, over-retained primary tooth, absent mandibular permanent central incisors, and highly arched palate. Lateral cephalometric analysis revealed a large anterior cranial base, a large maxilla and mandible, a large inferior face height, and skeletal Class III jaw relationship. FOLLOW-UP: After extraction of the over-retained primary central tooth, a partial prosthesis was fabricated in order to maintain function. The patient has been recalled regularly at 6-month intervals for 2 years. Over the following years the prosthesis was replaced due to facial growth. CONCLUSION: Long term follow-up is essential for the patient with SGBS. Preventive dental care, including oral hygiene instructions, diet counselling and the use of fluoride has been implemented.

Macrostomia: a spectrum of deformity.

BACKGROUND: Macrostomia is a rare facial cleft, with an incompletely described pathogenesis. This series highlights cases of isolated macrostomia presenting with several distinct phenotypes. We examine phenotypic differences in macrostomia patients, to further elucidate the etiopathogenesis. MATERIALS AND METHODS: We performed a retrospective review of macrostomia patients evaluated during a 10-year period. Patient demographics and clinical features are reported. RESULTS: We identified 25 macrostomia patients (13M/12F). Right-sided macrostomia occurred in 15, left-sided macrostomia occurred in 6, and bilateral macrostomia occurred in 4 patients. Of the bilateral cases, 100% existed in isolation of craniofacial microsomia (CFM) or other craniofacial abnormalities. Twelve patients presented with macrostomia in isolation of CFM; in this subgroup, the male-to-female ratio was 1:1. Bilateral macrostomia was present in 33% of patients. Unilateral macrostomia occurred more often on the right (5:2). Phenotypes included simple unilateral or bilateral macrostomia (67%), macrostomia associated with severe diastasis of the cheek musculature (8%), macrostomia associated with lateral facial clefts (17%), and diastasis of cheek musculature without significant macrostomia (8%). CONCLUSIONS: Macrostomia seen in isolation of CFM presents in phenotypically distinct forms. It is unlikely that a single mechanism is responsible for this range of phenotypes. We believe that both intrauterine trauma and failure of fusion of the mandibular and maxillary processes secondary to an aberration in FGF8 function are responsible. Additionally, diastasis of facial musculature may result from delayed fusion and subsequent decreased mesodermal penetration of the mandibular and maxillary processes.

Partial midfacial duplication.

A case of craniofacial duplication is presented. Details on this rare form are described, and its treatment is discussed with brief review of the pertinent literature. We excised the duplicate maxilla and also discovered bilateral macrostomia. A year later, a mass appeared again. By CT scan, we found that there was a mass in the skull base extruding to the superior wall of cavitas pharyngis. The mass below the sphenoid bone and the ethmoid bone connected with the skull base. CT scan also showed malformation of the first cervical vertebra and odontoid process had bifurcated. Once again, we excised the mass and found a cranial meningocele on the skull base, repaired the palate cleft, and closed the cerebral meningocele. The patient had a palate fistula after operation. A year later, the palate fistula and macrostomia were repaired. We think the patient should be operated on immediately after she was born so that we could relieve the dyspnea; furthermore, by one well-planned operation, we could repair the palate cleft and other deformity just after we excised the mass.

A rare case of accessory maxilla and bilateral Tessier no. 7 clefts, a 10-year follow-up.

A Tessier no. 7 cleft is a lateral facial cleft which originates from the oral cavity and extends towards the tragus, involving both soft-tissue and skeletal components. A male patient presenting with both maxillary jaw duplication and bilateral Tessier no. 7 clefts, which has been reported only twice in the literature, is described. Bilateral facial clefts, macrostomia and chondro-cutaneous remnants were noted, which were repaired and resected. With further growth, facial asymmetry and asymmetric facial nerve dysfunction became apparent. Radiographic examination showed an accessory maxillary jaw and a flattened and hypoplastic right coronoid process. A maxillary alveolar cleft was also present between the left second bicuspid and the second permanent molar. This case may represent an under-recognized phenotype with an unusual combination of maxillary jaw duplication, macrostomia, Tessier no. 7 clefts, and chondro-cutaneous remnants. A long-term follow-up of these patients is recommended as they often develop craniofacial deformities later in life.

Ablepharon-Macrostomia syndrome--extension of the phenotype.

Ablepharon-Macrostomia syndrome (AMS) is a rare collection of findings characterized by absent or hypoplastic eyelids, fusion defects of the mouth with unfused lateral commissures, abnormal ears, ambiguous genitalia, skin differences including dry and coarse skin or redundant folds of skin, and developmental delay. Fewer than 20 patients have been reported to date. These include a parent and two children and a recent report of a father and daughter, therefore suggesting autosomal dominant inheritance. Here we present one additional sporadic case with an expanded phenotype. This patient has more significant hand and foot anomalies than previously reported.

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

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 (AU)

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 (AU)

Surgical repair for macrostomia: significance of Z-plasty limb directions.

The objective of this study was to determine whether the direction of Z-plasty limbs incorporated into the surgical repair for macrostomia had a significant influence on the quality of the resultant scar. A total of 41 patients who underwent macrostomia repair by means of the same technique, and who had a follow up period of at least 2 years, were retrospectively reviewed through postoperative photographs and medical records. Quality of scar, lip symmetry, and commissure shape and thickness were recorded. Our results showed that a more favorable scar would be achieved in the medial limb of the Z-plasty if it was planned parallel to relaxed skin tension lines (P < 0.05). An unfavorable scar would be more likely if the medial limb of the Z-plasty was made in a horizontal direction or perpendicular to relaxed skin tension lines (P < 0.05). The quality of scar in both the central and lateral limbs of the Z-plasty was not significantly influenced by their direction.

Macrostomía bilateral aislada congénita / Congenital isolated bilateral macrostomia

Introducción. Dentro de las malformaciones craneofaciales, la macrostomía bilateral aislada es una de las malformaciones más inhabituales, con una frecuencia del 0,3% de los niños con fisuras faciales. Consiste en una hendidura orofacial entre el maxilar superior y el inferior derivada de una alteración del primer arco branquial. Su etiología es desconocida, pero una de las teorías más establecidas es el error de fusión entre el maxilar superior y el inferior durante el desarrollo embrionario. Suele aparecer de manera aislada, sin estar asociada a otros defectos, en contraposición a la macrostomía unilateral, que normalmente forma parte de un síndrome específico. Observación clínica. Exponemos el caso de un recién nacido de sexo femenino que presenta a la exploración un alargamiento bilateral de la comisura bucal de un centímetro de longitud mostrando una apertura amplia, sin otra malformación externa asociada. Todas las exploraciones complementarias que se realizaron para detectar malformaciones asociadas fueron normales. La evolución el periodo neonatal fue correcta, salvo una succión débil en las primeras horas de vida que desapareció progresivamente. Comentarios. Es importante realizar una minuciosa exploración física y diferentes exploraciones complementarias, como ecografía transfontanelar y abdominal, serie ósea y ecocardiograma para encontrar otras anormalidades, en especial si es de presentación unilateral. El tratamiento es quirúrgico con una evolución favorable y donde el proceso de deglución y fonación está conservado(AU)

Introduction. Isolated bilateral macrostomia is one of the rarest malformations within the craniofacial defects, with a frequency of 0.3% of children with facial clefts. It is defined by the presence of an orofacial cleft between the upper and lower jawbone caused by an alteration of the first branchial arch. Its etiology is unknown but one of the most established theories is the error of fusion between upper and lower jaw during embryonic development. Usually it appears isolated, without being associated with other defects, in contrast to unilateral macrostomia, which most often presents in the context of a specific syndrome. Case report. We describe the case of a female newborn that presented a bilateral one-centimeter elongation of the mouth, showing a large opening without other associated external malformations. Imaging studies excluded internal malformations. The evolution was optimal in the neonatal period except for a weak suction in the first hours of life that gradually improved. Comments. In the presence of macrostomia, it is important to perform a thorough evaluation, including physical examination and imaging studies such as transfontanellar and abdominal ultrasound, echocardiography and skeletal series to evaluate for other abnormalities, especially in cases of unilateral presentation. Surgical treatment usually results in successful outcome with preservation of swallowing and phonation(AU)

Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.

We report on a 7-year-old girl with unequivocal features of Barber-Say syndrome (BSS): generalized hypertrichosis especially at the back, dry lax skin, macrostomia, thin lips, cup-shaped ears, bulbous nose, hypoplastic nipples, and abnormal external genitalia. She also demonstrated conductive hearing impairment and microblepharon. BSS has been reported with ectropion (not present in our patient), but ablepharon and microblepharon (i.e., absent or hypoplastic eyelids) have always been considered as hallmarks of ablepharon macrostomia syndrome (AMS). This is the first report of microblepharon in BSS. Other authors have discussed that BSS and AMS could possibly represent one syndrome, and our report supports this hypothesis.