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1.
J Craniofac Surg ; 2020 Jul 10.
Artículo en Inglés | MEDLINE | ID: mdl-32657983

RESUMEN

BACKGROUND: Racial disparity in pathological consequences in skull growth may impact the treatment plan for different patient populations. This study attempts to explore the differences between Asian and Caucasian cranial morphology in Crouzon syndrome. METHOD: Ninety-one computed tomographic scans were included (Asian Crouzon syndrome, n = 12; Asian controls, n = 22; Caucasian Crouzon syndrome, n = 16; Caucasian controls, n = 41), and measured using Mimics and 3-matics software. RESULTS: The entire cranial base length was reduced 11.92 mm (P = 0.004) in Asian Crouzon patients, and 14.58 mm (P < 0.001) in Caucasian Crouzon patients, compared to respective controls. The cranial base angle on the facial side of basicranium was more narrowed in Crouzon syndrome in both races, with similar changes of degrees (9.61°, P = 0.002, in Asian Crouzon; 9.20°, P = 0.019, in Caucasian Crouzon). However, the intracranial side was statistically more narrowed only in the Asian group (9.86°, P = 0.003). Both Asian and Caucasian Crouzon patients developed reduced posterior fossa volume, by 15% (P = 0.034) and 17% (P = 0.004), respectively. However, Caucasian Crouzon patients developed a more shortened anterior and middle cranial base, than that of Asian patients. The separation of lateral pterygoids was only significantly increased in Caucasian patients (5.49°, P < 0.001). CONCLUSION: Crouzon syndrome causes a shortened, widened, and kyphotic cranial base across both races. It also restricts the development of the posterior cranial fossa. However, the skull malformation is not the same between populations: Asian Crouzon patients developed more narrowed cranial base angulation on the intracranial side of basicranium, while Caucasian Crouzon patients developed more widened lateral pterygoids.

2.
Cleft Palate Craniofac J ; : 1055665620944781, 2020 Jul 30.
Artículo en Inglés | MEDLINE | ID: mdl-32729337

RESUMEN

OBJECTIVE: Evaluate simulation-based comprehensive cleft care workshops as a reproducible model for education with sustained impact. DESIGN: Cross-sectional survey-based evaluation. SETTING: Simulation-based comprehensive cleft care workshop. PARTICIPANTS: Total of 180 participants. INTERVENTIONS: Three-day simulation-based comprehensive cleft care workshop. MAIN OUTCOME MEASURES: Number of workshop participants stratified by specialty, satisfaction with the workshop, satisfaction with simulation-based workshops as educational tools, impact on cleft surgery procedural confidence, short-term impact on clinical practice, medium-term impact on clinical practice. RESULTS: The workshop included 180 participants from 5 continents. The response rate was 54.5%, with participants reporting high satisfaction with all aspects of the workshop and with simulation-based workshops as educational tools. Participants reported a significant improvement in cleft lip (33.3 ± 5.7 vs 25.7 ± 7.6; P < .001) and palate (32.4 ± 7.1 vs 23.7 ± 6.6; P < .001) surgery procedural confidence following the simulation sessions. Participants also reported a positive short-term and medium-term impact on their clinical practices. CONCLUSION: Simulation-based comprehensive cleft care workshops are well received by participants, lead to improved cleft surgery procedural confidence, and have a sustained positive impact on participants' clinical practices. Future efforts should focus on evaluating and quantifying this perceived positive impact, as well reproducing these efforts in other areas of need.

3.
J Craniofac Surg ; 2020 Jul 14.
Artículo en Inglés | MEDLINE | ID: mdl-32675770

RESUMEN

BACKGROUND: Surgical resection of maxillary tumors can result in defects that can be difficult to reconstruct by conventional means due to the complex functional and anatomic nature of the midface and lack of regional bone flap options in the head and neck. Many reconstructive methods have been used to repair maxillary defects, but the ideal technique for the reconstruction of hemi-maxillectomy defects in growing pediatric patients has yet to be determined. METHODS: The authors present a rare pediatric patient with melanotic neuroectodermal tumor of infancy resulting in a hemi-maxillectomy defect after resection that was reconstructed using a pedicled vascularized composite flap consisting of temporalis muscle, pericranium, and parietal bone. RESULTS: The patient achieved successful long-term bony reconstruction of his right maxilla with this flap. Stable skeletal fixation with adequate orbital support was maintained over a >3-year follow-up period. CONCLUSION: A vascularized composite parietal bone flap is a reliable reconstructive option for reconstruction of large maxillectomy defects providing low donor-site morbidity, adequate globe support, excellent long-term skeletal stability, and malar symmetry in rapidly growing pediatric patients. Successful reconstruction for a rare patient with maxillary melanotic neuroectodermal tumor of infancy requiring hemi-maxillectomy was demonstrated with >3-year follow-up.

4.
Plast Reconstr Surg ; 2020 Jun 23.
Artículo en Inglés | MEDLINE | ID: mdl-32590515

RESUMEN

BACKGROUND: Facial asymmetry due to unilateral condylar hyperplasia (UCH) requires treatment to address facial and occlusal imbalances. There is no definitive evidence to suggest that a single intervention strategy (during either active condylar overgrowth or the burnt-out phase) results in better / more symmetric correction. This study sought to quantify pre- and post-operative facial asymmetry in UCH patients comparing treatment for active versus burnt out disease. METHODS: Pre- and post-operative three-dimensional (3D) photographs were obtained. Images were compared to unaffected controls as a standard for normal facial symmetry. Facial asymmetry was assessed using root mean squared deviation (RMSD). Paired student's t-tests were performed to compare the RMSDs of pre- and post-operative images between the UCH groups and against controls. RESULTS: Forty patients were included (11 active, 9 burnt-out, and 20 controls) and 60 3D images were evaluated. Pre-operatively, patients in the burnt-out group had worse asymmetry than those with active UCH (p = 0.011). Both groups demonstrated significantly improved symmetry post-operatively (active; p = 0.0069 and burnt out; p = 1.74E-4). However, burnt out patients remained with some residual asymmetry (p = 4.75E-4), while their active counterparts showed no significant difference compared to unaffected controls (p = 0.089). CONCLUSION: Patients with end-stage UCH have more severe facial asymmetry that is more difficult to normalize, compared to earlier intervention during active UCH. These findings suggest that, if possible, corrective intervention is preferable during active UCH.

6.
Plast Reconstr Surg ; 145(4): 944-946, 2020 04.
Artículo en Inglés | MEDLINE | ID: mdl-32221210

RESUMEN

Treatment of nasal deformity and obstruction requires analysis, planning, and precise execution of rhinoplasty techniques. When performed well, rhinoplasty is a powerful tool for achieving appealing nasal morphology and optimizing function. This article aims to highlight an open approach to septorhinoplasty using a number of techniques that are preferred by the senior author (D.M.S.) to successfully correct a congenital nasal deformity and deviated septum.


Asunto(s)
Tabique Nasal/cirugía , Nariz/anomalías , Rinoplastia/métodos , Insatisfacción Corporal/psicología , Técnicas Cosméticas , Estética , Femenino , Humanos , Cuidados Intraoperatorios , Modelos Anatómicos , Adulto Joven
7.
Plast Reconstr Surg ; 145(4): 790e-802e, 2020 04.
Artículo en Inglés | MEDLINE | ID: mdl-32221226

RESUMEN

BACKGROUND: Apert syndrome causes normal or enlarged intracranial volume overall as patients grow. This study aimed to trace the segmental anterior, middle, and posterior cranial fossae volume and structural morphology in these patients, to help discern a more focused and individualized surgical treatment plan for patients with Apert syndrome. METHODS: This study included 82 preoperative computed tomographic scans (Apert, n = 32; control, n = 50) divided into five age-related subgroups. The scans were measured using image processing and three-dimensional modeling software. RESULTS: The middle cranial fossa volume was increased and was the earliest change noted. It was increased by 45 percent (p = 0.023) compared with controls before 6 months of age and remained increased into adulthood (161 percent, p = 0.016), with gradually increasing severity. The anterior and posterior cranial fossae volumes also increased, by 35 percent (p = 0.032) and 39 percent (p = 0.007), respectively. Increased depth of cranial fossae contributed most to the increase in volumes of patients with Apert syndrome, with correlation coefficients of 0.799, 0.908, and 0.888 for anterior, middle, and posterior cranial fossa, respectively. The intracranial volume was increased 12 percent (p = 0.098) across the entire test age range (0 to 26 years old), but only had statistical significance during the age range of 6 to 18 years (22 percent, p = 0.001). CONCLUSIONS: Malformation of the middle cranial fossa is an early, perhaps the initial, pivotal cranial morphologic change in Apert syndrome. Increased cranial fossae depth is an inherent characteristic of the maldevelopment. Normalization of cranial volume and circumference overall may not achieve a normal skull structure, as it does not correct regional craniocerebral disproportion.


Asunto(s)
Acrocefalosindactilia/cirugía , Cefalometría/métodos , Desarrollo Infantil , Planificación de Atención al Paciente , Base del Cráneo/patología , Acrocefalosindactilia/diagnóstico por imagen , Acrocefalosindactilia/patología , Adolescente , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Humanos , Procesamiento de Imagen Asistido por Computador , Lactante , Recién Nacido , Masculino , Tamaño de los Órganos , Estudios Retrospectivos , Base del Cráneo/diagnóstico por imagen , Base del Cráneo/crecimiento & desarrollo , Tomografía Computarizada por Rayos X , Adulto Joven
8.
Ann Plast Surg ; 2020 Mar 13.
Artículo en Inglés | MEDLINE | ID: mdl-32187073

RESUMEN

INTRODUCTION: Increased awareness for transgender and gender-nonconforming individuals may lead to increased demand for surgical interventions in gender-confirming care. However, limited literature exists regarding transgender and gender-nonconforming preferences and experiences with medical or surgical care. The authors aim to characterize the medical and surgical care sought by this population, as well as their surgical preferences, motivations, and barriers to care. METHODS: An online questionnaire about opinions and personal experiences with medical and surgical care during gender transition was publicized via regional online social networking forums in Connecticut and surrounding areas catering to transgender communities. RESULTS: Responses were received from 313 participants. Participants were 97% male gender at birth and 92% white with an average (SD) age of 51.6 (13.5) years. Fifty-nine percent identified as male-to-female transgender and 20% as gender nonconforming. Respondents were aware of their gender identity at a mean (SD) age of 9.6 (9.0) years, but did not begin transitioning until a mean (SD) age of 38.9 (20.8) years, with gender-nonconforming respondents choosing to transition at a significantly younger age as compared with transgender respondents (29.8 vs 41.4 years; P = 0.0061, unpaired t test). Only 42% of all respondents, with a significantly greater number of transgender as opposed to gender-nonconforming individuals, had previously met with a physician to discuss transitioning (49% vs 21%, P = 0.002, χ test). Eight percent of the study population had undergone gender confirmation surgery (GCS), 52% were interested in GCS, and 40% were not interested in GCS. Primary motivation for GCS included discomfort in one's current body (28%), and barriers to GCS included cost (40%) and reactions of family (40%), partners (32%), and friends (25%). CONCLUSIONS: Transgender and gender-nonconforming individuals lack medical support for gender transition, with fewer than half of survey respondents reporting a prior meeting with a physician to discuss transitioning. The reported perspectives offer important insight into transgender preferences that should act as the basis of future efforts to improve the efficacy of gender-confirming care.

9.
J Craniofac Surg ; 31(3): 673-677, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32049910

RESUMEN

BACKGROUND: Based on an established classification system of Crouzon syndrome subtypes, detailed regional morphology and volume analysis may be useful, to clarify Crouzon cranial structure characteristics, and the interaction between suture fusion and gene regulated overall growth of the calvarium and basicranium. METHODS: CT scans of 36 unoperated Crouzon syndrome patients and 56 controls were included and subgrouped as: type I. Bilateral coronal synostosis; type II. Sagittal synostosis; type III. Pansynostosis; type IV. Perpendicular combination synostosis. RESULTS: Type I of Crouzon syndrome patients developed a slightly smaller posterior fossa (22%), and increased superior cranial volume (13%), which is the only subtype that develops a greater superior cranial volume. The effect of competing increased and decreased segmental volume is associated with a 24% enlargement of overall cranial volume (P = 0.321). In class III, the anterior fossa volume was increased by 31% (P = 0.007), while the volume of posterior fossa was decreased by 19% (P < 0.001). These resulted in a 7% (P = 0.046) reduction in the overall intracranial volume. Type II and type IV patients developed a trend toward anterior, middle, and posterior fossae, and entire cranial volume reduction. CONCLUSIONS: Pansynostosis is the most often form of associated craniosynostoses of Crouzon syndrome, however bilateral coronal synostosis may not dominate this form of Crouzon syndrome. The anterior, middle and posterior cranial fossae may have simultaneously reduced volume if the midline suture synostosis is involved. Individualized treatment planning for Crouzon syndrome patient, theoretically should include the patient's age and temporal associated maldevelopment suture sequence.

10.
J Craniofac Surg ; 31(3): 678-684, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32068731

RESUMEN

BACKGROUND: Patients with Crouzon syndrome develop various types of anatomic deformities due to different forms of craniosynostosis, yet they have similar craniofacial characteristics. However, exact homology is not evident. Different pathology then may be best treated by different forms of surgical technique. Therefore, precise classification of Crouzon syndrome, based on individual patterns of cranial suture involvement is needed. METHODS: Ninety-five computed tomography (CT) scans (Crouzon, n = 33; control, n = 62) were included in this study. All the CT scans are divided into 4 types based on premature closure of sutures: class I = coronal and lambdoidal synostosis; class II = sagittal synostosis; class III = pansynostosis; and class IV = "Others." The CT scan anatomy was measured by Materialise software. RESULTS: The class III, pansynostosis, is the most prevalent (63.6%). The classes I, III, and IV of Crouzon have significantly shortened entire anteroposterior cranial base length, with the shortest base length in class III. The external cranial measurements in class I show primarily a decreased posterior facial skeleton, while the class III presented with holistic facial skeleton reduction. Class II has the least severe craniofacial malformations, while class III had the most severe. CONCLUSION: The morphology of patients with Crouzon syndrome is not identical in both cranial base and facial characteristics, especially when they associated with different subtypes of cranial suture synostosis. The classification of Crouzon syndrome proposed in this study, summarizes the differences among each subgroup of craniosynostosis suture involvement, which, theoretically, may ultimately influence both the timing and type of surgical intervention.

11.
Plast Reconstr Surg ; 145(2): 518-521, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-31985651

RESUMEN

The mature bilateral cleft nasolabial deformity exhibits prolabial and vermilion deficiency, a broad depressed nasal tip, and short columella. Many strategies attempt to correct these stigmata, with varying degrees of success. The purpose of this communication is to describe a novel sequenced approach, staging an Abbe flap and rhinoplasty, with morphometric analysis of results. CLINICAL QUESTION/LEVEL OF EVIDENCE:: Therapeutic, IV.


Asunto(s)
Labio Leporino/cirugía , Rinoplastia/métodos , Colgajos Quirúrgicos , Adolescente , Adulto , Niño , Femenino , Humanos , Masculino , Satisfacción del Paciente , Resultado del Tratamiento , Adulto Joven
12.
Plast Reconstr Surg ; 145(1): 117e-125e, 2020 01.
Artículo en Inglés | MEDLINE | ID: mdl-31592950

RESUMEN

BACKGROUND: De novo or rare transmitted mutations in the SMAD6 gene affect 7 percent of midline nonsyndromic synostosis patients. This study aimed to determine the neurocognitive sequelae of SMAD6 synostosis. METHODS: Nonsyndromic synostosis patients 6 years or older with SMAD6 mutations and non-SMAD6 nonsyndromic synostosis controls were recruited. All patients completed a double-blinded neurodevelopmental battery (i.e., Wechsler Fundamentals, Wechsler Abbreviated Scale of Intelligence, Beery-Buktenica Developmental test), and parents/guardians completed behavioral surveys (Behavior Rating Inventory of Executive Function and Behavior Rating System for Children). RESULTS: Twenty-eight patients participated: 10 known SMAD6 patients (average age, 10 years; 1 female; eight metopic and two sagittal; nine treated with cranial vault remodeling and one treated with strip craniectomy) and 18 non-SMAD6 controls (age, 9.5 years; three female; 12 metopic and six sagittal; 17 treated with cranial vault remodeling and one treated with strip craniectomy). There were no differences between any demographics. Testing age, surgical age, parental education, and household income correlated with cognition (p < 0.05). After controlling for these factors, SMAD6 patients performed worse on numerical operations (p = 0.046), performance intelligence quotient (p = 0.018), full-scale intelligence quotient (p = 0.010), and motor coordination (p = 0.043) compared to age/race/gender/synostosis/operation-matched controls. On behavioral surveys, SMAD6 patients scored worse on 14 assessments, including aggression, communication, and behavior. CONCLUSIONS: This prospective double-blinded study revealed that neuropsychiatric development of nonsyndromic synostosis may be under genetic control. SMAD6 mutations led to poorer mathematics, performance intelligence quotient, full-scale intelligence quotient, and motor coordination, even after controlling for exogenous factors. Genetic testing may be critical for advocating early adjunctive neurodevelopmental therapy. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, II.

13.
Plast Reconstr Surg ; 144(6): 1371-1383, 2019 12.
Artículo en Inglés | MEDLINE | ID: mdl-31764655

RESUMEN

BACKGROUND: Nonsyndromic craniosynostosis may manifest with complex behavioral, attentional, and emotional sequelae. The authors characterized higher level brain connectivity in adolescent nonsyndromic craniosynostosis patients in response to emotional frustration. METHODS: Surgically corrected patients older than 9 years with nonsyndromic craniosynostosis were age/sex/handedness matched to controls. Patients participated in a "go/no-go" task, structured as win/lose/recovery paradigms. BioImage Suite was used to analyze whole-brain intrinsic connectivity between tasks with cluster-corrected group-level t maps. A value of p < 0.05 was significant. RESULTS: Seven unilateral coronal (average age, 12.2 years), six metopic (average age, 11.5 years), and controls were included. Unilateral coronal had worse emotional regulation scores on the Behavior Rating Inventory of Executive Function survey (p = 0.065) and performed poorly on the go/no-go task (p < 0.001). Metopic had four regions of interest, with the majority having decreased activity compared with controls, and few differences between tasks. Unilateral coronal patients had 11 regions of interest; the majority decreased during the win and lose conditions, but all increased during the recovery condition. Metopic patients had decreased blood oxygenation level- dependent signal in the posterior cingulate (p = 0.017) and middle temporal gyrus (p = 0.042). Unilateral coronal had decreased signal in the posterior cingulate (p = 0.023), middle temporal gyrus (p = 0.027), and thalamus (p = 0.033), but increased signal in the cuneus (p = 0.009) and cerebellum (p = 0.009). Right unilateral coronal, but not metopic/controls, had increased right brain activity in the caudate (p = 0.030), thalamus (p = 0.011), temporal lobe (p = 0.012), and cerebellum (p = 0.029). CONCLUSIONS: Unilateral coronal patients may have emotional dysregulation in response to frustration, whereas metopic patients may have attenuated emotional reactions. Evidence of right unilateral coronal brain laterality suggests that the area of suture fusion may contribute to the mechanism of dysfunction. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, II.


Asunto(s)
Craneosinostosis/psicología , Regulación Emocional/fisiología , Frustación , Estudios de Casos y Controles , Niño , Craneosinostosis/sangre , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Oxígeno/sangre , Estudios Prospectivos , Pruebas Psicológicas
14.
J Craniofac Surg ; 30(8): 2345-2349, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31609946

RESUMEN

BACKGROUND: Based on an established classification system of Apert syndrome subtypes, detailed regional morphology and volume analysis may be useful to provide additional clarification to individual Apert cranial structure characteristics, and treatment planning. METHODS: Computed tomography scans of 32 unoperated Apert syndrome and 50 controls were included and subgrouped as: type I, bilateral coronal synostosis; type II, pansynostosis; type III, perpendicular combination synostosis. Three-dimensional analysis of craniometric points was used to define structural components using Materialise Mimics and 3-Matics software. RESULTS: Occipitofrontal circumference of all subtypes of Apert syndrome patients is normal. Intracranial volumes of types I and II were normal, but type III was 20% greater than controls. Middle cranial fossa volume was increased in all 3 types, with the greatest increase in type II (86%). Type II developed a 69% increase in anterior cranial fossa volume, whereas type III had 39% greater posterior cranial fossa volume. Increased cranial fossa depth contributed most to above increased volume. The anteroposterior lengths of middle and posterior cranial fossae were reduced in type I (15% and 17%, respectively). However, only the anterior cranial fossa was significantly shortened in type III. CONCLUSIONS: Occipitofrontal circumference and overall intracranial volume is not always consistent in individual subunits of Apert syndrome. Detailed and segmental anterior, middle, and posterior cranial fossae volumes and morphology should be analyzed to see what impact this may have related to surgical planning.


Asunto(s)
Acrocefalosindactilia/diagnóstico por imagen , Acrocefalosindactilia/cirugía , Cefalometría , Fosa Craneal Anterior/diagnóstico por imagen , Fosa Craneal Anterior/cirugía , Fosa Craneal Media/diagnóstico por imagen , Fosa Craneal Media/cirugía , Fosa Craneal Posterior/diagnóstico por imagen , Fosa Craneal Posterior/cirugía , Femenino , Humanos , Masculino , Tomografía Computarizada por Rayos X
15.
Plast Reconstr Surg ; 144(5): 772e-780e, 2019 11.
Artículo en Inglés | MEDLINE | ID: mdl-31373990

RESUMEN

BACKGROUND: Control and maintenance of nasal tip position are critical in rhinoplasty. Two frequent methods of exerting tip control are columellar strut and caudal septal extension graft. However, no quantitative data exist comparing the two methods over time. The purpose of this study was to analyze maintenance of tip projection and rotation following either columellar strut or septal extension graft. METHODS: A retrospective cohort study of patients undergoing rhinoplasty was reviewed. Three-dimensional photogrammetric evaluation of patients with either columellar strut or septal extension graft to increase tip projection was performed. Anthropometric points were analyzed in a blinded fashion. Outcome variables were tip projection, nasal length, the Goode ratio, and tip rotation. Results were stratified based on technique and compared statistically. RESULTS: One hundred six patients were included. Overall, 66 percent were female, with an average age of 34.5 years. A columellar strut was used in 42 percent of cases (n = 45), and a septal extension graft was used in 57 percent (n = 61). Analysis showed greater maintenance of tip rotation over time with the septal extension graft compared with the columellar strut [-1.01 percent change (p = not significant versus -5.08 percent change (p = 0.009)]. Tip projection, nasal length, and the Goode ratio decreased over time for both groups, but the differences were not statistically different. CONCLUSIONS: Nasal tip projection and rotation appear to decrease from the immediate postoperative position. In this study, both septal extension graft and columellar strut exhibit similar changes in tip projection with time; however, septal extension graft is better able to preserve tip rotation compared with the columellar strut. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, III.


Asunto(s)
Cartílagos Nasales/trasplante , Tabique Nasal/cirugía , Fotogrametría , Rinoplastia/métodos , Adulto , Estudios de Cohortes , Estética , Estudios de Evaluación como Asunto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Prótesis e Implantes , Estudios Retrospectivos , Medición de Riesgo , Técnicas de Sutura , Resultado del Tratamiento
16.
Plast Reconstr Surg ; 144(3): 704-709, 2019 09.
Artículo en Inglés | MEDLINE | ID: mdl-31461034

RESUMEN

BACKGROUND: Apert syndrome is frequently combined with respiratory insufficiency, because of the midfacial deformity which, in turn, is influenced by the malformation of the skull base. Respiratory impairment resulting from Apert syndrome is caused by multilevel limitations in airway space. Therefore, this study evaluated the segmented nasopharyngeal and laryngopharyngeal anatomy to clarify subcranial anatomy in children with Apert syndrome and its relevance to clinical management. METHODS: Twenty-seven patients (Apert syndrome, n = 10; control, n = 17) were included. All of the computed tomographic scans were obtained from the patients preoperatively, and no patient had confounding disease comorbidity. Computed tomographic scans were analyzed using Surgicase CMF. Craniometric data relating to the midface, airway, and subcranial structures were collected. Statistical significance was determined using t test analysis. RESULTS: Although all of the nasal measurements were consistent with those of the controls, the nasion-to-posterior nasal spine, sphenethmoid-to-posterior nasal spine, sella-to-posterior nasal spine, and basion-to-posterior nasal spine distances were decreased 20 (p < 0.001), 23 (p = 0.001), 29 (p < 0.001), and 22 percent (p < 0.001), respectively. The distance between bilateral gonions and condylions was decreased 17 (p = 0.017) and 18 percent (p = 0.004), respectively. The pharyngeal airway volume was reduced by 40 percent (p = 0.01). CONCLUSION: The airway compromise seen in patients with Apert syndrome is attributable more to the pharyngeal region than to the nasal cavity, with a gradually worsening trend from the anterior to the posterior airway, resulting in a significantly reduced volume in the hypopharynx.


Asunto(s)
Acrocefalosindactilia/patología , Laringe/anomalías , Nasofaringe/anomalías , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Estudios Retrospectivos
17.
Plast Reconstr Surg ; 144(3): 713-715, 2019 09.
Artículo en Inglés | MEDLINE | ID: mdl-31461036

RESUMEN

There are several approaches to correct sagittal synostosis. Regardless of technique, the goals are to (1) release the fused suture and (2) impart a normocephalic head shape with resultant functional and aesthetic benefits. This article and video detail the authors' preferred technique for the treatment of sagittal synostosis. This novel method involves three-dimensional planning and an open approach to focus on immediate correction of the anteroposterior, mediolateral, and vertex dimensions, using vault remodeling, pedicled osseous ("Maltese") crosses, and corset pericranial flaps.


Asunto(s)
Trasplante Óseo/métodos , Craneosinostosis/cirugía , Procedimientos Quirúrgicos Reconstructivos/métodos , Cirugía Asistida por Computador/métodos , Humanos , Imagenología Tridimensional , Lactante , Masculino , Resultado del Tratamiento
19.
Proc Natl Acad Sci U S A ; 116(30): 15116-15121, 2019 07 23.
Artículo en Inglés | MEDLINE | ID: mdl-31292255

RESUMEN

Craniosynostosis (CS) is a frequent congenital anomaly featuring the premature fusion of 1 or more sutures of the cranial vault. Syndromic cases, featuring additional congenital anomalies, make up 15% of CS. While many genes underlying syndromic CS have been identified, the cause of many syndromic cases remains unknown. We performed exome sequencing of 12 syndromic CS cases and their parents, in whom previous genetic evaluations were unrevealing. Damaging de novo or transmitted loss of function (LOF) mutations were found in 8 genes that are highly intolerant to LOF mutation (P = 4.0 × 10-8); additionally, a rare damaging mutation in SOX11, which has a lower level of intolerance, was identified. Four probands had rare damaging mutations (2 de novo) in TFAP2B, a transcription factor that orchestrates neural crest cell migration and differentiation; this mutation burden is highly significant (P = 8.2 × 10-12). Three probands had rare damaging mutations in GLI2, SOX11, or GPC4, which function in the Hedgehog, BMP, and Wnt signaling pathways; other genes in these pathways have previously been implicated in syndromic CS. Similarly, damaging de novo mutations were identified in genes encoding the chromatin modifier KAT6A, and CTNNA1, encoding catenin α-1. These findings establish TFAP2B as a CS gene, have implications for assessing risk to subsequent children in these families, and provide evidence implicating other genes in syndromic CS. This high yield indicates the value of performing exome sequencing of syndromic CS patients when sequencing of known disease loci is unrevealing.


Asunto(s)
Craneosinostosis/genética , Glipicanos/genética , Histona Acetiltransferasas/genética , Mutación , Proteínas Nucleares/genética , Factores de Transcripción SOXC/genética , Factor de Transcripción AP-2/genética , Proteína Gli2 con Dedos de Zinc/genética , alfa Catenina/genética , Adolescente , Niño , Preescolar , Craneosinostosis/diagnóstico , Craneosinostosis/patología , Exoma , Femenino , Expresión Génica , Humanos , Masculino , Linaje , Medición de Riesgo , Transducción de Señal , Cráneo/anomalías , Cráneo/crecimiento & desarrollo , Cráneo/metabolismo , Secuenciación del Exoma Completo
20.
J Craniomaxillofac Surg ; 47(9): 1426-1435, 2019 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31331854

RESUMEN

Crouzon syndrome patients develop normal intracranial volume and potential restricted posterior cranial fossa volume with growth. This study aims to trace the segmental anterior, middle and posterior cranial fossae volume, and structural morphology in these patients, in order to help discern more focused and individualized surgical treatment plan. Ninety-two preoperative CT scans (Crouzon, n = 36; control, n = 56) were included, and divided into 5 age related subgroups. CT scans were measured using Mimics and 3-matics software. Overall, Crouzon syndrome patients grew to a 27% (p = 0.011) increased anterior cranial fossa volume and a 20% (p = 0.001) decreased posterior cranial fossa volume, with normal middle cranial fossa and entire intracranial volume measurement. The posterior cranial fossa of Crouzon syndrome initially developed significantly reduced volume (19%, p = 0.032), compared to normals, from 6 months of age, and remained reduced thereafter. The 7.63 mm shortening of posterior cranial fossa length contributed most to the shortened entire cranial length (9.30 mm, p = 0.046). Although the entire cranial volume of Crouzon syndrome is normal overall, the segmental anterior, middle and posterior cranial fossae developed disproportionately. The early significant and lifelong restricted posterior cranial fossa addresses the importance of early posterior cranial expansion. Ideally expansion would have vectors in all three dimensions.


Asunto(s)
Fosa Craneal Anterior , Disostosis Craneofacial , Fosa Craneal Media , Fosa Craneal Posterior , Humanos , Base del Cráneo
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