Anaplastic lymphoma associated with breast implants-Early diagnosis and treatment.

Anaplastic large cell lymphoma associated with breast implants is a relatively new disease that deserves attention from the academic community. Brazil figures as one of the protagonists in plastic surgery, however publications are insufficient and very few cases are reported in comparison to other countries. It is a disease with excellent prognosis when diagnosed early and treated effectively, but for this to happen, it is essential that health care professionals and the patient understand its pathology. We reported two cases in a small town during a short period of time. In both cases reported by this study, the patients presented late seroma, associated with pain as a clinical presentation, at 13 and 9 years after the placement of silicone implants with textured polyurethane surfaces. After the procedure, the patients were screened for cancer. Further research with more robust samples is still needed to fully determine the risks and benefits of using textured versus smooth implants.

Onfalopagus parasitic fusioned twin: A case report.

INTRODUCTION AND IMPORTANCE: The parasitic fetus is a kind of siamese twin, in which one of the twins is reabsorbed and some parts of the body can remain attached to the other twin. It is a very rare event, with a birth incidence that varies from 0.05 to 1.47 cases per 100,000. CASE PRESENTATION: This paper reports the case of a parasitic twin diagnosed at 34 weeks of gestational age. Preoperative ultrasonography was performed and the absence of communication between vital organs and the parasite was observed, and surgery was scheduled at 10 days of life. A multidisciplinary team performed the surgical procedure and the child was discharged from the intensive care unit after 3 months. CLINICAL DISCUSSION: After diagnosis and birth, it is essential to investigate the anomalies found for future surgical programming, and cases of twins who do not share vital organs, for example, heart or brain, have higher survival rates. The treatment is surgical and the objective of the surgery must be resection of the parasite. CONCLUSION: The diagnosis still in the gestational period is essential to plan the best mode of delivery and neonatal care, as well as define the surgical schedule. The hospital must be tertiary and the presence of a multidisciplinary team is necessary to perform the surgery in order to present the highest success rates.

Comparative Study of Maxillary Growth in Patients With Unilateral Cleft Treated With and Without Pre-Surgical Orthopedics.

Compare the maxillary growth of patients with Unilateral Cleft treated with pre-surgical Functional Maxillary Orthopedic (FMO) and that of who underwent a surgical procedure with no previous use of appliances.Prospective study, the patients were divided into 2 groups. G1, was composed of 12 patients who received no pre-surgical intervention and cheilorhinoplasty at 6 months of age and G2, included 12 patients treated using Pre-Surgical Funtional Maxilary Orthopedic; they underwent no surgery during the study. Measurements were taken at three times: before the first month of life, at 6 months and between 9-12 months of age. Cleft distance (anterior, medium and posterior), maxillary width (anterior, medium and posterior) and minor and major segment width were analyzed.Alveolar Cleft decrease was 79.82% in G1 and 52% in G2. Posterior Cleft decrease was 24.1% in G1 and 41.77% in G2. Greater Segment Width increase was 24.53% for the patients in G1, and 37.47% for the patients in G2. As for Inter Canine Width, a decrease of 5.16% in G1 and an increase of 9.19% in G2 were found. Medium Arch Width only increased in a statistically significant manner in G2 9.02%.Surgery allowed for the closure of the alveolar cleft. FMO made it possible to close the anterior and the posterior clefts through the growth of the maxillary segments, increased the transverse growth of the maxilla and could prevent maxillary collapse. Each team must individually evaluate whether to indicate or not the use of preoperative orthopedics.

Tessier's Cleft Number 6 Revisited: A Series of 26 new Cases and Literature Review of 44.

OBJECTIVE: To fix a gray zone left in Tessier's classification of rare clefts with cleft 6 and to give a more comprehensive description of cleft 6 anatomy. DESIGN: The material used for the research was a series of 26 clinical cases of patients with assessed cleft 6 and 44 cases found out of a literature review with enough data to be useful. The 70 cases were cross-examined by the authors. STUDY SETTING: The authors are senior craniofacial surgeons working in high-case load department from university centers where the patients are documented and receive primary as well as secondary treatment and follow-up. PATIENTS: The patients were selected out of the series of craniofacial deformities taken care of by the authors' department as rare clefts. MAIN OUTCOME: We describe the full spectrum of cleft 6 as an autonomous entity that could present itself in three subtypes: 6a is the most proximal and could be associated with cleft 8. The subtype 6b is medial toward the zygomatic arch and frequently associated with a bone and teeth appendage (frequently described as a "maxillary duplication"). The subtype 6C goes toward the external ear between the helix crus and the auditory meatus. CONCLUSIONS: The Tessier's opinion is that Treacher Collins syndrome was the association of clefts 6, 7, and 8 and is no longer sustainable in the light of modern genetics. Most of the cleft 6 are misdiagnosed in the literature.

Giant idiopathic penoscrotal lymphedema - Surgical approach with skin graft: A case report.

Lymphedema is originated from the reduced lymphatic flow, causing a volumetric increase in the affected region and is physically and emotionally uncomfortable. Surgical intervention is considered the best treatment option as it brings both functional and aesthetic benefits. This is a report from the case of a previously healthy 45-year-old man who developed idiopathic penoscrotal giant lymphedema. A surgical approach was proposed. There was resection of scrotal lymphedema followed by a classic postectomy, suprapubic advancement flaps, and use of a partial skin graft from the right thigh. The results of the therapeutic approach were aesthetically and functionally satisfactory.

Patient-perceived barriers to surgical treatment of cleft lip and palate in Brazil: A multi-region study.

INTRODUCTION: Many patients worldwide are unable to access timely primary repair of cleft lip and palate. The aim of this study was to assess patient-perceived barriers to accessing timely cleft lip and palate repair across Brazil. METHODS: A 29-item questionnaire was applied to patients undergoing surgery for cleft lip and/or palate across five contrasting sites in Brazil from February 2016 to November 2017. Differences in patient timelines, demographics, and patient-reported barriers were compared by region. A multivariate logistic regression was used to determine predictors of delayed care. RESULTS: Of 181 patients, 42% of patients received timely primary surgical repair. The age of the patient at the interview was 82 months (standard deviation [SD] 107) and 52% were male. The majority of delays occurred between diagnosis and primary surgical repair. The mean number of barriers to accessing timely surgical care cited by each patient was 3.77. The most common barrier was perceived "lack of hospitals that provided the surgery in my area" (48% (n = 86)). Univariate logistic regression showed increased odds of receiving late care in the state of Amazonas (odds ratio [OR] 2.91; 95% confidence interval [CI] 1.07-7.96; P = 0.037) or Para (OR 4.46; 95% CI 1.09-19.70; P = 0.037). Multivariate logistic regression determined predictors of delayed care to be female sex (OR = 2.05; 95% CI 1.05-3.99; P = 0.035) and perceived poor availability of care (OR = 0.045; 95% CI 1.02-4.37; P = 0.045). CONCLUSION: The majority of patients in Brazil are not receiving timely primary repair of their clefts. Improvements in the coordination of care, patient education and patient empowerment are required.

BRPF1-associated syndrome: A patient with congenital ptosis, neurological findings, and normal intellectual development.

In 2017, Mattiolli et al. and Yan et al. described a series of patients with clinical findings essentially characterized by intellectual disabilities, ptosis, hypotonia, epilepsy, and weakness. They also found in these patients distinct heterozygous mutations in the BRPF1 gene, which plays a role in epigenetic regulation by promoting histone acetylation. The disease is known as Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP, OMIM #617333). Later, another 20 patients were also described by distinct reports, suggesting IDDDFP could be a more frequent cause of intellectual disability as it was thought before. Here, we describe a patient with normal intellectual development who had congenital ptosis, hypotonia, muscular weakness, atlanto-axial malformation, and pyramidal at the neurological examination. The patient has a rare nonsense variant on exon 3 of BRPF1 gene. We also describe a phenotypic amplification for conditions related to deficiency in histone modifications.

Determination of Extra Craniofacial Abnormalities in Patients With Craniofacial Microsomia.

INTRODUCTION: Craniofacial microsomia (CFM) is caused by abnormalities in the development of the first and second pharyngeal arches. One-third to half of the patients with CFM also present with extra craniofacial (ECF) malformations. The knowledge of the visceral alteration related to CFM is vital for optimized care and a better prognosis. AIM: To describe the incidence of ECF malformations in patients with CFM and to infer if there was a correlation between CFM and ECF malformations. MATERIALS AND METHODS: The authors analyzed medical records of patients diagnosed with CFM from 1996 to 2006. The data collected included age, gender, category of craniofacial alteration, and the type of ECF malformation when present. The sample was inspected to find possible correlations between craniofacial abnormalities and ECF malformations. RESULTS: The sample included 102 patients, with a mean age of 7 years and a predominance of males (61.8%). Ear malformations (93.1%) followed by mandible (59.8%) and facial nerve (10.8%) abnormalities were the most common CFM. Among patients with CFM, 37.2% had ECF involvement, mainly in vertebrae (20%), heart (11%), and limbs (9.8%). Multivariate analysis revealed that the presence of ear malformations was related to a higher incidence of nonspecific visceral malformations (P = 0.034) and that mandible malformation was related to an increased incidence of vertebral malformations (P = 0.008). CONCLUSION: A significant percentage of patients with CFM presented associated ECF impairment. Ear and mandible involvement may be predictors of nonspecific visceral malformation and vertebral malformations, respectively.

Should Cleft Surgery Always be Performed During the Matutine Time? Analysis of Early and Late Postoperative Complications in a Cleft Center.

OBJECTIVE: Surgeries performed in the afternoon schedule were discouraged by Smile Train Foundation for patients younger than 2 years. The aim of this study is to present the incidence of complications discriminating time of surgery (morning/afternoon) in a reference center in Curitiba (Brazil) during 2017. DESIGN: Retrospective study that evaluated all cleft surgeries that were performed at Assistance Center for Cleft Lip and Palate during 2017. Complications correlated with surgery period (morning/afternoon), type of surgery, and operating surgeon were studied. Statistical analysis was performed to find any association between discrete variables. SETTING: Tertiary, institutional. PARTICIPANTS: One hundred eighty-seven patients with cleft lip and/or cleft palate/cleft lip and palate, who were evaluated and submitted to surgery in the center and had less than 24 months of age, were included in the study. INTERVENTIONS: One hundred twenty-four cheiloplasties and 63 palatoplasties were performed. MAIN OUTCOME MEASURE: Incidence of complications. RESULTS: From the total of cheiloplasties, the number of complications was 2 (1.6%) and from the total of palatoplasties the number of complications was 11 (17%); 8.1% of surgeries that were performed in the morning had any complication compared to 5.1% of surgeries performed in the afternoon. Statistical analysis of discrete variables with χ2 test showed no correlation between surgery schedule and complications (χ2 = 0.62). CONCLUSION: The number of complications was not higher in the afternoon scheduled surgeries. Surgeon expertise had a statistically significant correlation with the absence of complications (χ2 = 20.57).

Inframammary fold subcutaneous cushion assessment using MRI (magnetic resonance imaging).

BACKGROUND: The inframammary fold (IMF) is one of the most important elements in the determination of the aesthetic of the female breast. During mastectomies, it is important to preserve the subcutaneous portion nearby the IMF, attempting that, this preservation will greatly facilitate reconstruction allowing more satisfying aesthetic results. The aim of the present study is to evaluate the thickness of the subcutaneous IMF cushion using magnetic resonance imaging (MRI) acquisition images. METHODS: We have gauged the right breast IMF subcutaneous cushion from patients (all the cases without previous surgery in this topography) who were submitted to MRI in a diagnosis radiology center, between January and February of 2017. MRI images were analyzed in T1 fat saturated sequences. The assessment of the fold cushion was realized in the projection of axial measurements in sagittal plane. RESULTS: Among the 50 evaluated patients, the median measure of breast base was 9.91 cm. The median measure of the subcutaneous IMF cushion assessment in the sagittal projection of the breast base meridian was 2.40 cm (varying from 1.34 to 4.05 cm, with percentile 5% of 1.51 cm and percentile 95% of 3.55 cm). CONCLUSIONS: Other studies indicate the negligible amount of breast tissue and the low incidence of neoplasia in this topography, the preservation of the IMF seems feasible. The measurements of the IMF thickness, evaluated by MRI in this study, provide reference values for maintaining a desirable inframammary crease.

Is There a Breast Augmentation Outcome Difference Between Subfascial and Subglandular Implant Placement? A Prospective Randomized Double-Blinded Study.

INTRODUCTION: Subfascial breast augmentation is gaining popularity because of no distortion when the pectoral muscle is contracted and minimizing visualization of the edges of the implant. Although some studies have reported a satisfactory outcome with subfascial technique, it still is controversial the influence of the pectoral fascia and outcome compared to the subglandular technique. Therefore, this prospective randomized study aimed to investigate whether there are clinical/radiological differences between subfascial and subglandular pockets following primary breast augmentation. METHODS: Twenty patient candidates for primary breast augmentation were recruited. Each patient was selected for subfascial or subglandular pockets in a randomized fashion. Both patient and surgeon were blinded. Clinical and radiological differences were evaluated through five independent surgeons and MRI (capsule, folds, fluids, base and projection). Median follow-up was 12 months. RESULTS: Breast consistency (p = 0.24), implant pocket (p = 0.52), symmetry (p = 1), contour, and shape (p = 0.09) demonstrated no statistically significant difference after the surgeons' assessments at 3 and 12 months after surgery. MRIs demonstrated a larger implant base in the subfascial group (p = 0.024). No differences were observed in capsule thickness (p = 0.42), folds (p = 0.51), fluids (p = 0.28), or projection (0.20). CONCLUSION: The choice between subfascial and subglandular planes shows no clinical differences and can be selected according to individual professional experience, not evidencing any advantages of one over the other. LEVEL OF EVIDENCE II: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266.

Influence of the Pectoralis Major Muscle Sling in Chest Wall-Based Flap Suspension After Vertical Mammaplasty: Ten-Year Follow-Up.

BACKGROUND: The pectoralis muscle sling has proven to be a suitable alternative technique for long-term results in breast parenchyma suspension. Although the pectoralis muscle sling has been subjectively observed to reduce the bottoming-out effect with a bipedicled muscle flap (muscular loop), there has not been a study to objectively or numerically prove it. OBJECTIVES: This study aimed to radiologically evaluate the influence of a pectoralis muscle sling in supporting the chest wall-based flap after a vertical breast-reduction technique. METHODS: Twenty-one female patients underwent a vertical breast reduction with the chest wall-based flap and were randomly divided into two subgroups. Ten patients were in subgroup (S), which consisted of patients with a muscle sling. Eleven patients without the muscle sling technique were assigned as a control group (C). Periodic radiological examinations were performed at 1, 3, 6, and 12 months and then at 10 years postoperatively to analyze the breast flap and any migration with respect to three titanium clips placed intraoperatively on the chest wall parenchyma flap. RESULTS: Patients in subgroup S had a significantly higher difference in migration of the chest wall-based flaps between the first day and 10 years postoperatively when compared with patients in subgroup C (P < .001), as shown by the distances measured between titanium clip locations. CONCLUSIONS: After 10 years of follow-up, there were changes in chest wall-based flap bottoming-out in patients in whom a pectoralis major muscle sling was utilized compared with those patients without it. Thus, a pectoralis major muscle sling seems to provide greater and longer-lasting support to the flap position on the patient's chest. LEVEL OF EVIDENCE: 2 Therapeutic.

Surgical Technique of Hemi-Face Transplant: A New Model of Training.

OBJECTIVE: Face transplantation from cadaveric donors is an alternative that has been explored as a way to overcome the disadvantages of reconstructive plastic surgery for patients with severe facial deformities, when its approaches are not able to offer good aesthetic and functional results. In this study, the authors describe the surgical technique of face transplantation in swine, investigating the reproducibility of the methods as an experimental model in transplantation. METHODS: Seven swines were operated upon. After euthanasia, the left hemifacial area was removed and implanted onto the same location on the same animal from which it was removed. The vascular pedicle was based on the facial artery, the caudal auricular artery, and the external jugular vein. The ventral buccal and dorsal buccal branches of the facial nerve and the transverse facial branch of the auricular nerve were taken into the flap. RESULTS: The mean time of the procedure was 4.5 hours. Differences in vascularization were found as the vessel that provides blood supply to auricular region can be the caudal auricular artery, instead of the temporal artery, as described in the literature. Operative difficulty increases if the animal is more obese. The medical student had training in microsurgical procedures to be able to perform the entire procedure. CONCLUSION: This study describes an experimental model of face transplantation in swine, providing a good model for training of the surgical technique. The method is reproducible in any setting that offers resources in experimental surgery and microsurgery.

Assessment of Labionasal Structures in Patients With Unilateral Cleft Lip.

INTRODUCTION: Unilateral cleft lip (UCL) patients have lip and nose deformities that must be addressed during lip repair. Currently, devices to achieve lip and nose improvements have been developed. The most researched presurgical molding device is the nasoalveolar molding (NAM), which has shown favorable results. However, clinical observation shows that unilateral cleft patients, even without molding devices, achieve spontaneous improvements. The aim of this study is to compare morphological and symmetry changes in nose and lip, between patients less than 30-day old and those submitted to cheiloplasty, at 6 months of age. MATERIALS AND METHODS: A total of 27 UCL patients with 2 photographs were selected. The pictures were taken from frontal view and nasal base view at 2 distinct moments: before 30 days of life (t1) and at 6 months of age, during cheiloplasty surgery (T2). Images were analyzed with indirect measurement to assess lip and nose dimensions and nasal symmetry. ImageJ software was used to perform the analyses. RESULTS: A total of 20 patients (P < 0.05) had an average cleft width reduction of 15% [standard deviation (SD) ± 11%]. A 55% average increase (SD ± 29%) was observed in nostril height of cleft side in 16 of patients (P < 0.05). There was an reduction in facial asymmetry of nostril width (P < 0.05), from 95% (SD ± 90%) (t1) to 59% (SD ± 50) (T2). Also, nasal base width asymmetry (P < 0.05) was decreased from 64% (SD ± 66%) (t1) to 40% (SD ± 29%) (T2). CONCLUSION: Facial growth causes a natural improvement on cleft morphological changes and nasal symmetry.

Autologous Fat Grafting for Treatment of Breast Implant Capsular Contracture: A Study in Pigs.

BACKGROUND: Capsular contracture (CC) is a common complication after breast augmentation. Autologous fat grafting may be effective for restoring tissue vascularization and function. OBJECTIVE: The authors evaluated the efficacy of autologous fat grafting in a porcine model as a treatment for CC after breast augmentation. METHODS: This prospective study was performed in 20 female 30-day-old pigs. Each animal was implanted with three 30-cc textured silicone implants (stage 1 of the experiment). Group A served as the untreated control group. To induce CC, 2 mL of autologous fibrin glue was applied to the pericapsular space in group B and C animals at implantation. Three months after implantation (stage 2), the CCs of all groups were assessed by Baker classification and applanation tonometry (AT). Liposuction was performed in group B to harvest fat for these animals. Three months after group B underwent fat grafting, all 3 groups were reevaluated. Reassessments included Baker classification, AT, histologic analysis, and tensiometry (stage 3). RESULTS: The deposition of mature and immature collagen was similar for the 3 groups. The amount of fat remaining around the implanted capsules did not differ significantly between the groups. At stage 3, group B exhibited significantly larger tonometry areas than did group C. The CCs in groups B and C were significantly thicker than those of group A, but the difference between groups B and C was not significant. Capsule rupture forces did not differ significantly between groups A and B but were significantly higher in group C compared with the other groups. CONCLUSIONS: Results in this animal model indicate that pericapsular lipoinjection may be a promising treatment for CC in humans.

Closed reduction and percutaneous Kirschner wire fixation in the treatment of simple zygoma fractures: orbital volumetric outcomes.

INTRODUCTION: The primary goal of treatment of fractures of the zygoma is the perfect restoration of function and aesthetic appearance. An adequate surgical treatment must combine adequate fracture reduction with the lowest possible morbidity of the surrounding soft tissues. This is the principle that guides the use of closed method for the treatment of simple fractures of the zygomatic bone. For a long-term evaluation, it is necessary to develop a method of volumetric orbitometry using tomography and use it for the evaluation of recent and late outcomes of patients treated with the closed technique. METHODS: We present a study consisting of 3 consecutive phases that aimed to evaluate the orbital volume in late postoperative patients with simple fractures of the zygomatic bone treated with closed reduction. In the first phase, examinations of 21 patients were selected and a method was developed for volumetric orbitometry. This method was tested by 3 averiguadores (certified radiologists). After defining the volumetric method, the second stage was started, when 10 examinations of the patients who had been diagnosed with simple fractures of the zygomatic bone were selected. These examinations were from the patients who underwent conservative treatment and who also had a computed tomographic scan in a maximum period of 7 days postoperatively. In the third phase of the study, we selected 10 other examinations of the patients who had been operated on with the closed method in over 12 months. Orbital volumetry analysis of late results was performed. RESULTS: In the first phase, the method for orbital volumetry by helical computed tomographic scan showed adequate precision and accuracy. Furthermore, it was able to set the possibility of using an orbit control volume at each other. In the second phase, the statistical analysis of the mean orbital volumetry showed that zygomatic fractures alter the orbital volume and that the closed technique is able to restore these volumes. In the third phase, the volumetry of the orbits of the patients with late follow-up of unilateral closed reduction of fractures of the zygoma also showed the maintenance of the results. CONCLUSIONS: The current study was able to develop a reliable method of volumetry and use it to the evaluation of patients in recent and late postoperative period who were treated with closed technique.

Evaluation of maxillary growth: is there any difference using relief incision during palatoplasty?

INTRODUCTION: Scar retraction due to exposed bone in palatoplasty is the leading cause of constricted maxilla. Modern techniques have focused on minimizing the effects of scarring by reducing the exposure of the bone area. OBJECTIVE: The objective of the study was to compare the palatal mucoperiosteal detachment with minimal lateral incision, followed by their synthesis, with the maintenance of lateral areas for relaxation (similar to the von Langenbeck technique) and evaluate the transversal development of the maxilla. METHODS: A prospective, randomized study was conducted, in which the molding of the dental arch of 14 pigs in 2 stages (at 1 month and 5 months) was performed. The pigs were divided into 3 groups: group 1 underwent lateral incision of the palate for mucoperiosteal detachment and maintenance of bone exposure; group 2 underwent mucoperiosteal palatal detachment with lateral access and no bone exposure; and group 3, the control animals, did not undergo any surgical procedures. Measurements of the dental arches were compared between the groups to assess differences in the development of the maxillary transverse diameter. RESULTS: There were no animals lost during the study. Group 1 showed greater growth restriction of the transverse diameter of the maxilla (36%) when compared with groups 2 (56%) and 3 (59%). Groups 2 and 3 showed similar transverse maxillary development, with no statistical difference. CONCLUSIONS: The technique of mucoperiosteal detachment without lateral relief incision has the advantage of reducing future morbidity of a constricted maxilla. This study demonstrated that the technique described can reduce rates of maxillary underdevelopment, a significant complication inherent in the procedure for palatoplasty. The lateral incisions reduce maxillary growth by approximately 20% as compared with this technique. Level II of evidence.

Mandibular distraction in hemifacial microsomia is not a permanent treatment: a long-term evaluation.

BACKGROUND: Hemifacial microsomia presents with abnormalities including short ramus, absence of condyle, abnormal canting, deviated chin, and facial asymmetry. Many studies about distraction osteogenesis have been published over the last 20 years, but without long-term follow-up. The aim of this study was to evaluate patients with unilateral craniofacial microsomia who were treated with mandible distraction and with follow-up of more than 5 years. METHODS: The following retrospective study was evaluated and approved by the Assistance Center for Cleft Lip and Palate. Data were compiled from the charts of 33 patients with hemifacial microsomia who underwent unilateral mandible distraction. RESULTS: Average age at time of procedure was 7.3 years, with an average degree of distraction of 20 mm. Seventy percent of cases were treated with internal distraction, 30% external. Follow-up varied between 5 and 15 years, with a mean follow-up of 9 years. Ninety percent of the 33 patients in the study had recurrence of their asymmetry. Mean time to postsurgical recurrence was 44 months. Thirty patients were referred for orthognathic surgery. Six patients have already undergone corrective bimaxillary surgery. One patient underwent genioplasty only, and 1 patient underwent genioplasty with orthognathic jaw surgery. Twenty-two patients are awaiting orthognathic surgery, including one with temporomandibular joint ankylosis. Only 3 subjects had good outcomes, without signs of recurrence. CONCLUSIONS: Bone distraction once seemed a promising long-term option for treatment of craniofacial microsomia. However, this has not proven effective for all cases, and most patients needed subsequent orthognathic surgery.

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.