Caracterización de pacientes operados de craneosinostosis no sindrómica. Villa Clara, 2018-2022

Fundamento la craneosinostosis es una de las patologías neuroquirúrgicas más frecuentes en la edad pediátrica. Los conocimientos sobre su manejo son de vital importancia para intervenir con el tratamiento de manera oportuna. Objetivo caracterizar los pacientes operados de craneosinostosis no sindrómica. Métodos se realizó un estudio descriptivo y de corte transversal, en el período enero/2018- diciembre/2022, con la totalidad de pacientes intervenidos de craneosinostosis en el Hospital Pediátrico José Luis Miranda, de Villa Clara (N=28). Las variables analizadas fueron: sexo, color de la piel, clasificación de la malformación según sutura afectada, síntomas y signos asociados a la malformación, edad al realizar la intervención quirúrgica, técnica quirúrgica y complicaciones. Resultados se observó predominio del sexo masculino y de pacientes con color blanco de la piel. La forma de presentación más frecuente fue la escafocefalia, y se asoció a síntomas como el retardo en el desarrollo psicomotor y estrabismo. Las técnicas quirúrgicas realizadas fueron de remodelado total de la bóveda craneal, que en la mayoría de los niños se realizó antes de los 23 meses. La complicación más frecuente fue la infección de la herida quirúrgica. Conclusiones la craneosinostosis es una patología neuroquirúrgica frecuente en el sexo masculino. La forma de presentación más frecuente es la escafocefalia y se puede asociar a síntomas y signos neurológicos. Las técnicas quirúrgicas realizadas para remodelado de la bóveda craneal se deben realizar antes del primer año de vida, con vistas a disminuir el índice de complicaciones.

Background craniosynostosis is one of the most frequent neurosurgical pathologies in the pediatric age. Knowledge about its management is of vital importance to intervene with treatment in a timely manner. Objective to characterize the patients operated on for non-syndromic craniosynostosis. Methods a descriptive and cross-sectional study was carried out, from January/2018 to December/2022, with all the patients operated on for craniosynostosis at the José Luis Miranda Pediatric Hospital, in Villa Clara (N=28). The analyzed variables were: sex, skin color, classification of the malformation according to the affected suture, symptoms and signs associated with the malformation, age at surgery, surgical technique, and complications. Results a predominance of the male sex and patients with white skin color was observed. The most frequent form of presentation was scaphocephaly, and it was associated with symptoms such as delayed psychomotor development and strabismus. The surgical techniques performed were total remodeling of the cranial vault, which in most children was performed before 23 months old. The most frequent complication was infection of the surgical wound. Conclusions craniosynostosis is a frequent neurosurgical pathology in the male sex. The most frequent form of presentation is scaphocephaly and it can be associated with neurological symptoms and signs. Surgical techniques performed for remodeling of the cranial vault must be performed before the first year of life, in order to reduce the complications rate.

Técnica de clonación 3D aplicada en planificación quirúrgica para craneosinostosis sagital en Latinoamérica-Perú: reporte de caso

La craneosinostosis sagital es el cierre prematuro de la sutura sagital, ocasionando alteraciones funcionales y estructurales. El tratamiento es quirúrgico, y actualmente se cuenta con diversas técnicas, las cuales requieren de una planificación y entrenamiento para lograr óptimos resultados. Se presenta el caso de un varón de 1 año presenta crecimiento anteroposterior anormal del cráneo, indicándose tomografía cerebral sin contraste evidenciando una sinostosis sagital. Se realiza la planificación quirúrgica de la técnica a desarrollar mediante modelo 3D personalizado a escala real. Paciente cursa con buena evolución y es dado de alta. Finalmente, la tecnología de clonación 3D esencial para la educación y desarrollo neuroquirúrgico permitiendo acceder a modelos táctiles de alta precisión y bajo costo que mejoran la calidad del manejo de craneosinostosis.

Sagittal craniosynostosis is the premature closure of the sagittal suture, causing functional and structural alterations. The treatment is surgical, and there are currently various techniques, which require planning and training to achieve optimal results. We present the case of a 1-year-old male with abnormal anteroposterior growth of the skull, indicating brain tomography without contrast, showing sagittal synostosis. Surgical planning of the technique to be developed is carried out using a real-scale personalized 3D model. The patient progresses well and is discharged. Finally, essential 3D cloning technology for neurosurgical education and development allows access to high-precision, low-cost tactile models that improve the quality of craniosynostosis management.

Síndrome de Saethre-Chotzen: a propósito de un caso / Saethre-Chotzen syndrome: a case report

El síndrome de Saethre-Chotzen es un síndrome malformativo craneofacial caracterizado por una sinostosis de las suturas coronales y alteraciones de extremidades. Tiene una prevalencia de 1 de cada 25 000-50 000 recién nacidos vivos. Se presenta el caso de un neonato sin antecedentes de interés con alteraciones craneofaciales al nacer. Ante los rasgos fenotípicos del paciente, se realizó una tomografía axial computada craneal, que mostró la fusión parcial de la sutura coronal y evidenció la presencia de huesos wormianos en localización metópica y lambdoidea derecha. Con la sospecha clínica de síndrome malformativo craneofacial, se solicitó análisis del exoma dirigido, que confirmó que el paciente era portador heterocigoto de la variante patogénica c.415C>A, que inducía un cambio de prolina a treonina en la posición 139 del gen TWIST1, responsable del síndrome. La presencia de huesos wormianos, hallazgo no descrito hasta ahora en la literatura, amplía la variabilidad fenotípica conocida de este síndrome.

The Saethre-Chotzen syndrome is a craniofacial malformation syndrome characterized by synostosis of coronal sutures and limb anomalies. The estimated prevalence of this syndrome is 1 in 25 000-50 000 live births. We present a case report of a neonate, without relevant family history, who presented craniofacial alterations at birth. Given the phenotypic features, a cranial computed tomography scan was performed, showing partial fusion of the coronal suture, evidencing the presence of wormian bones in the metopic and right lambdoid location. With the clinical suspicion of craniofacial malformation syndrome, an analysis of the directed exome was requested confirming that the patient is a heterozygous carrier of the pathogenic variant c.415C>A, which induces a change of proline to threonine at position 139 of the TWIST1 gene, responsible for Saethre-Chotzen syndrome.The presence of wormian bones, a finding not described so far in the literature, extends the well-known phenotypic variability of this syndrome.

Síndrome de Apert. Reporte de caso / Apert syndrome. Case report

RESUMEN Fundamento: El síndrome de Apert consiste en una enfermedad genética con anomalía craneofacial denominada acrocefalosindactilia; produce malformaciones en el cráneo como craneosinostosis, además de alteraciones en cara, manos y pies, puede ser hereditaria, secundaria a mutaciones esporádicas del gen FGFR2 y otros genes. Debido a los programas de pesquisaje genético el diagnóstico prenatal de este síndrome posibilita el asesoramiento genético y la asistencia médica multidisciplinaria. Objetivo: Ilustrar la importancia del diagnóstico prenatal del síndrome de Apert como elemento esencial para la atención multidisciplinaria posnatal del futuro niño. Reporte de caso: Se presenta un neonato de sexo masculino, nacido a las 39 semanas de gestación por parto eutócico, con signos de craneosinostosis y sindactilia en las manos y los pies por lo que se le realizó el diagnóstico posnatal de síndrome de Apert. Conclusiones: Los pacientes con el síndrome de Apert deben ser diagnosticados oportunamente durante la pesquisa prenatal, considerando el conjunto de sus signos y alteraciones y no como anomalías aisladas, como puede ocurrir de realizarse el diagnóstico en el período posnatal. De efectuarse el diagnóstico prenatal se lograría el tratamiento de forma multidisciplinaria y se podría garantizar al paciente una calidad de vida superior.

ABSTRACT Background: Apert syndrome consists of a genetic disease with craniofacial anomaly called acrocephalosyndactyly; it produces malformations in the skull such as craniosynostoses, in addition to alterations in the face, hands and feet, it can be inherited, secondary to sporadic mutations of the FGFR2 gene and some other genes. Due to genetic screening programs, the prenatal diagnosis of this syndrome enables genetic counseling and multidisciplinary medical assistance. Objective: To illustrate the importance of prenatal diagnosis of Apert syndrome as an essential element for the postnatal multidisciplinary care of the future child. Case report: A male neonate, born at 39 weeks of gestation by eutocic delivery, with signs of craniosynostoses and syndactyly on the hands and feet, so he was made the postnatal diagnosis of Apert syndrome. Conclusions: Patients with Apert syndrome should be diagnosed appropriately in time during prenatal screening, considering all their signs and alterations and not as isolated abnormalities, as may occur if the diagnosis is made in the postnatal period. If the prenatal diagnosis was made, the treatment would be achieved in a multidisciplinary way and a better quality of life could be guaranteed to the patient.

Baller-Gerold Syndrome in a Premature Infant with a Mutation in the RECQL4 Gene

Baller-Gerold syndrome is a rare autosomal recessive disorder characterized by premature fusion of the cranial sutures and malformation of the upper limb extremities at birth. Although the pathogenesis of Baller-Gerold Syndrome is not fully understood, it is mainly caused by mutations in the RecQ like helicase 4 (RECQL4) gene located on chromosome 8q24.3, which encodes the RECQL4 protein involved in normal DNA replication and repair. This study reports the case of a female premature infant with craniosynostosis of bilateral coronal sutures, resulting in a dysmorphic face and hypoplastic thumbs on both hands at birth, which are consistent with the core characteristics of Baller-Gerold syndrome. Diagnostic whole exome sequencing of the patient revealed a homozygous deletion from exon 13 to 18 in the RECQL4 gene. To the best of my knowledge, this is the first reported case of Baller-Gerold syndrome with RECQL4 gene mutation confirmed by diagnostic whole exome sequencing in Korea.

Volumetric lipoinjection of the fronto-orbital and temporal complex with adipose stem cells for the aesthetic restoration of sequelae of craniosynostosis

BACKGROUND: Non-syndromic craniosynostosis causes craniofacial asymmetry and may persist after cranioplasty. These postoperative asymmetries are primarily depressions. In some cases, patients may be subjected to pranks and harassment by their peers, affecting their psychosocial development. We propose lipoinjection enriched with adipose stem cells (ASCs) to treat the sequelae of craniosynostosis in the fronto-orbital and temporal complex in cranioplasty patients, with the goal of improving the appearance of the upper third of the face. METHODS: Twelve children (four boys and eight girls) between 4 and 8 years of age (mean age, 6 years) in the postoperative period after treatment for plagiocephaly, brachycephaly, and trigonocephaly were included, with a follow-up period of 1 to 18 months. Fat tissue was obtained from the lower abdomen, and ASCs were isolated using the Yoshimura technique. Lipoinjection was performed using several mini-approaches to ensure adequate distribution. RESULTS: Two different scales were used to evaluate the aesthetic outcomes. At 6 months, three plastic surgeons independent of the study classified the results using a Likert scale. The patients’ parents categorized the results using a visual analog scale at 6, 9, and 18 months. R esults were favorable on both scales, as the patients’ facial appearance improved and they reported increased happiness and self-esteem due to their remodeled facial appearance. CONCLUSIONS: We suggest that lipoinjection enriched with ASCs is a good alternative for correcting asymmetry of the fronto-orbital and temporal contour in patients with sequelae of craniosynostosis. This treatment will help boost patients’ self-esteem starting at an early age.

Craneosinostosis y deformidades posicionales del cráneo: revisión crítica acerca del manejo / Craniosynostosis and cranial positional deformities: a critical review on its management

RESUMEN OBJETIVO: Revisar la fisiopatología de las craneosinostosis y las deformidades posicionales del cráneo y analizar los tipos de tratamiento, especialmente las ortesis de moldeamiento craneal. MÉTODOS: Revisión de la literatura de estudios observacionales, ensayos clínicos y de revisión en la base de datos PubMed desde 1980 a 2018 y manual de los artículos no referenciados. Se utilizaron las palabras clave: craniosynostosis, plagiocephaly, nonsynostotic, skull, cranial, asociadas a: surgical treatment, pathophysiology, cognition, orthotic devices, head protective devices. El título y el resumen fueron analizados antes de solicitar el artículo completo. En el caso de que fueran ambiguos, se analizaron los artículos en su totalidad para determinar su pertinencia. RESULTADOS: El tratamiento de las craneosinostosis es quirúrgico, mediante reconstrucción craneal, pero existe controversia respecto al manejo de deformidades posicionales: cambios de posición supervisados u ortesis de moldeamiento craneal. Aunque la corrección del defecto estético es recomendación principal de las ortesis, se discute la influencia que puede haber sobre el desarrollo cognitivo y motor, trastornos visuales, hipertensión endocraneana y defectos ortognáticos. No existen diferencias con el manejo de cambios de posición supervisada en la modificación del índice craneal. Algunos pacientes mejoran espontáneamente cuando adquieren el sostén cefálico y empiezan a incorporarse. Existen además complicaciones con las ortesis que pueden llegar a ser serias. CONCLUSIÓN: No se recomienda la utilización de medidas restrictivas como las ortesis de moldeamiento craneal para el tratamiento de estos pacientes con deformidades posicionales craneanas. La cirugía reconstructiva es el manejo de elección para las craneosinostosis.

SUMMARY OBJECTIVE: to review the pathophysiology of craniosynostosis and positional deformities of the skull, and analyze the types of treatment, especially cranial orthoses. METHODS: Review of the literature on observational studies, clinical trials and reviews in the PubMed database from 1980 to 2018 and manual search of non-referenced articles. The following keywords were used: craniosynostosis, plagiocephaly, nonsynostotic, skull, cranial, associated with: surgical treatment, pathophysio-logy, cognition, orthotic devices, head protective devices. We analyzed the title and abstract before requesting the full article. If they were ambiguous, we analyzed the whole article to determine its relevance. RESULTS: Treatment of craniosynostosis is surgical by cranial reconstruction. On the other hand, there is controversy over supervised position changes and use of cranial orthosis to manage positional deformities. Although correcting the esthetic defect is the main purpose of orthoses, their potential influence on cognitive and motor development, visual disorders, endocranial hypertension and orthognathic defects is discussed. There are no differences between conservative management with changes of supervised position and orthoses, in the modification of the cranial index. In addition, some patients improve spontaneously when they acquire cephalic support and begin to incorporate. On the other hand, there are complications with orthoses that can become serious. CONCLUSION: There is no recommendation for the use of restrictive measures such as cranial orthotics devices to treat patients with cranial positional deformities. reconstructive surgery is the treatment of choice for craniosynostosis.

Management of syndromic craniosynostosis using posterior cranial vault distraction osteogenesis: preliminary findings / 中华整形外科杂志

Objective@#To explore the effect of managing syndromic craniosynostosis using posterior vault distraction osteogenesis.@*Methods@#The authors conducted a retrospective cohort study of four children with syndromic craniosynostosis treated between 2015 January to 2016 March using posterior vault distraction osteogenesis. The posterior craniotomy was performed from vertex, biparietally to a point above the occipital protuberance. Two distraction devices were fixed in the parasagittal, collinear position. After a latency of 3 days, the device was activated at 0.5 mm/day. After the distraction, the consolidation period was about 6 months.@*Results@#The average distraction distance was 27.3 mm(range, 25 to 30 mm). Cerebrospinal fluid leak happened in one patient. After taken the 3D CT scan, all of them were undertaken the second operation of removing the distraction devices. All the patients were followed up at a mean of 12.8 months (range, 7 to 20 months).@*Conclusions@#It is effective to enlarge the posterior cranial vault using distraction osteogenesis for the syndromic craniosynostosis.

Impacto de la hipotermia durante la intervención quirúrgica de craneosinostosis / Impact of hypothermia during craniosynostosis repair surgery

Introduction: Hypotherrma is recognized as a risk factor for perioperative complications in paediatric patients. High surgical risk procedures serve as a model of exposure to that risk factor. In particular, surgical correction of craniosynostosis serves as a model for measuring the impact of hypothermia. Objective: To assess hypothermia-related morbidity and mortality in paediatric patients taken to craniosynostosis correction. Methodology: Historical cohort study of patients taken to craniosynostosis correction and exposed to hypothermia. Results: With prior approval of the Ethics Committee of the institution, 54 records were included in the analysis. No statistically significant differences were found between hypothermia and its impact in terms of morbidity and mortality (death, major bleeding, massive haemorrhage massive transfusion, disseminated intravascular coagulation, need for vasopressor support, mechanical ventilation time and length of stay, including admission to the intensive care unit). A clinically significant increase in bleeding (severe and massive) and severe hypothermia was found (28.6% vs. 40% and 14.3% vs. 40%, respectively). Conclusions: No statistical differences were found in terms of morbidity and mortality with severe hypothermia (and moderate/severe hypothermia).

Introducción: La hipotermia es un reconocido factor de riesgo de complicaciones peri-operatorias en pacientes pediátricos. Para el estudio de sus impactos, las cirugias de alto riesgo quirúrgico se comportan como un modelo de exposición a dicho factor de riesgo. En este punto, la correcion quirurgica de Craneosinostosis se comporta como un modelo para la medición de los impactos de la hipotermia. Objetivo: Evaluar morbilidad y mortalidad relacionada a hipotermia en pacientes pediátricos llevados a corrección de Craneosinostosis. Metodologia: Estudio de Cohorte Histórico en pacientes pediátricos llevados a corrección de Craneosinostosis expuestos a hipotermia. Resultados: Previa aprobación del Comité de Ética Institucional, incluimos 54 registros en el análisis. No encontramos diferencias estadisticamente significativas entre Hipotermia e Impactos en terminos de morbimortalidad (Mortalidad, Hemorragia Severa, Hemorragia Masiva, Trasfusión Masiva, Coagulación Intravascular Diseminada, Necesidad de Soporte Vasopresor y Tiempos de Ventilacion Mecanica, y Hospitalización, incluso en Cuidado Intensivo). Hallamos un aumento clinicamente significativo en la hemorragia (severa y masiva) e Hipotermia Severa, (28.6% Vs. 40% y 14.3% Vs. 40%, respectivamente). Conclusiones: La hipotermia severa (y moderada a severa) no demostro en nuestros pacientes diferencias estadisticas para morbilidad y mortalidad.

Two cases of Antley-Bixler syndrome caused by mutations in different genes, FGFR2 and POR

Antley-Bixler syndrome (ABS) is a rare form of syndromic craniosynostosis with additional systemic synostosis, including radiohumeral or radioulnar synostosis. Another characteristic feature of ABS is mid-facial hypoplasia that leads to airway narrowing after birth. ABS is associated with mutations in the FGFR2 and POR genes. Patients with POR mutations present with either skeletal manifestations or congenital adrenal hyperplasia with ambiguous genitalia. We report here two cases of ABS caused by mutations in FGFR2 and POR. Although the patients had craniosynostosis and radiohumeral synostosis in common and cranioplasty was performed in both cases, the male with POR mutations showed an elevated level of 17α-hydroxyprogesterone during newborn screening and was diagnosed with congenital adrenal hyperplasia by adrenocorticotropic hormone stimulation. This patient has been treated with hydrocortisone and fludrocortisone. He had no ambiguous genitalia but had bilateral cryptorchidism. On the other hand, the female with the FGFR2 mutation showed severe clinical manifestations: upper airway narrowing leading to tracheostomy, kyphosis of the cervical spine, and coccyx deformity. ABS shows locus heterogeneity, and mutations in two different genes can cause similar craniofacial and skeletal phenotypes. Because the long-term outcomes and inheritance patterns of the disease differ markedly, depending on the causative mutation, early molecular genetic testing is helpful.

Treatment of Nonsyndromic Craniosynostosis Using Multi-Split Osteotomy and Rigid Fixation with Absorbable Plates

BACKGROUND: Nonsyndromic craniosynostosis is a relatively common craniofacial anomaly and various techniques were introduced to achieve its operative goals. Authors found that by using smaller bone fragments than that used in conventional cranioplasty, sufficiently rigid bone union and effective regeneration capacity could be achieved with better postoperative outcome, only if their stable fixation was ensured. METHODS: Through bicoronal incisional approach, involved synostotic cranial bone together with its surrounding areas were removed. The resected bone flap was split into as many pieces as possible. The extent of this ‘multi-split osteotomy’ depends on the degree of dysmorphology, expectative volume increment after surgery and probable dead space caused by bony gap between bone segments. Rigid interosseous fixation was performed with variable types of absorbable plate and screw. In all cases, the pre-operational three-dimensional computed tomography (3D CT) was checked and brain CT was taken immediately after the surgery. Also about 12 months after the operation, 3D CT was checked again to see postoperative morphology improvement, bone union, regeneration and intracranial volume change. RESULTS: The bony gaps seen in the immediate postoperative brain CT were all improved as seen in the 3D CT after 12 months from the surgery. No small bone fragment resorption was observed. Brain volume increase was found to be made gradually, leaving no case of remaining epidural dead space. CONCLUSION: We conclude that it is meaningful in presenting a new possibility to be applied to not only nonsyndromic craniosynostosis but also other reconstructive cranial vault surgeries.

Nautilus: craniotomia dinâmica - nova técnica cirúrgica e resultados preliminares / Nautilus-shaped dynamic craniotomy: a new surgical technique and preliminary results

INTRODUÇÃO: Considerando-se que as craniossinostoses são afecções basicamente suturais, o fato de o cérebro estar aprisionado em um compartimento fechado, que não possui a complacência necessária para acompanhar seu crescimento, se constitui no desafio principal de seu tratamento. O objetivo do tratamento é restabelecer a complacência da sutura estenótica e corrigir a deformidade craniana compensatória. Este trabalho propõe a associação de osteotomia helicoide à distração osteogênica proporcionada pelo uso das molas distratoras para remodelar defeitos craniofaciais causados por craniossinostoses. MÉTODO: Entre julho de 2010 e julho de 2012, foram tratados 10 pacientes portadores de craniossinostoses, sendo 5 oxicefalias, 3 escafocefalias, 1 turricefalia e 1 trigonocefalia. O tratamento consistiu na aplicação de molas de Lauritzen, para corrigir a deformidade primária da craniossinostose, com a associação de craniotomia helicoide em forma de Nautilus nos sítios de deformação secundária do crânio, sem descolamento dural. RESULTADOS: Foi observada resolução da deformidade craniana e remissão dos sinais clínicos de hipertensão intracraniana. Nenhum paciente apresentou complicações, como fístula liquórica, infecção local, seroma ou hematoma. CONCLUSÕES: A associação da osteotomia helicoide com a distração ou contração promovida pelas molas permitiu remodelar ativamente o crânio, facilitando a acomodação do conteúdo cerebral no continente craniano.

INTRODUCTION: Considering that craniosynostosis is a suture-related condition, the main challenge for its treatment is the fact that the brain is located in a closed compartment that does not have the required adaptability to accommodate its growth. The goal of treatment is to restore stenotic suture adaptability and correct the compensatory cranial deformity. This paper proposes the combined use of spiral osteotomy with distraction osteogenesis by the use of distracting springs to remodel craniofacial defects caused by craniosynostosis. METHODS: Between July 2010 and July 2012, 10 patients with craniosynostosis were treated: 5 with oxycephaly, 3 with scaphocephaly, 1 with turricephaly, and 1 with trigonocephaly. The treatment consisted of the application of Lauritzen springs to correct the primary craniosynostosis defect in combination with a nautilus-shaped spiral craniotomy at the secondary deformation sites without dural detachment. RESULTS: Resolution of cranial deformity and remission of the clinical signs of intracranial hypertension were observed. None of the patients had complications such as cerebrospinal fluid fistula, local infection, seroma, or hematoma. CONCLUSIONS: The combined use of spiral osteotomy with spring-mediated distraction or contraction enables active reshaping of the skull and facilitates accommodation of the brain by the cranial cavity.

Idade e indicações de osteotomias para avanço frontofacial em pacientes com craniossinostoses sindrômicas / Age and indications for osteotomy for frontofacial advancement in patienets with syndromic craniosynostosis", "_e": "n

INTRODUÇÃO: Desde o início da Cirurgia Craniofacial, muitos desafios foram ultrapassados. Problemas operatórios técnicos e de infraestrutura básica de atendimento especializado foram solucionados. Agora, 25 anos após as publicações iniciais dos avanços frontofaciais, há ainda algumas dúvidas quanto às indicações precisas da idade e do tipo de cirurgia a ser realizada. O objetivo deste estudo foi avaliar a evolução de pacientes submetidos a tratamento de craniossinostoses sindrômicas operados nos últimos 10 anos em nossa instituição. MÉTODO: Todos os pacientes sindrômicos submetidos a avanço frontofacial em monobloco ou somente facial isolado foram selecionados no período de 2001 a 2011. Foram selecionados 70 pacientes, 56 submetidos a avanço frontofacial em monobloco e 14, a avanço facial após remodelagem frontorbitária prévia. Todos os dados referentes a esses pacientes foram correlacionados, avaliando a idade e o resultado final. Os pacientes foram selecionados de acordo com idade à época da cirurgia, complicações existentes e resultados finais correlacionados com os principais problemas existentes previamente. RESULTADOS: Os pacientes sindrômicos apresentaram graus variados de resultados finais, dependendo da síndrome e da idade de realização do procedimento. Os avanços frontofaciais em monobloco apresentaram baixo índice de complicações pós-operatórias imediatas, porém ficou demonstrada a necessidade de procedimentos futuros ao final do crescimento facial. Nos pacientes submetidos a cirurgias mais tardiamente, o índice de resultados positivos foi maior. CONCLUSÕES: Nos casos de craniossinostoses graves, com problemas funcionais, a indicação de avanço frontofacial em monobloco continua sendo a melhor opção terapêutica.

BACKGROUND: Craniofacial surgery has overcome many challenges since its initiation into clinical practice. Several technical issues have been addressed and the basic infrastructure of the specialty has now been developed. At present, 25 years after the first publications on frontofacial advancement, questions still remain as to the appropriate age for surgery and the appropriate type of surgery that should be performed. The aim of this study was to evaluate patients surgically treated for syndromic craniosynostosis over the last 10 years at our institution. METHODS: All syndromic patients who underwent monobloc frontofacial advancement or only isolated facial advancement from 2001 to 2011were selected. Out of 70 patients in total, 56 underwent monobloc frontofacial advancement and 14 underwent facial advancement after fronto-orbital remodeling. All data concerning these patients were correlated with patient age and final result. Moreover, age at surgery, complications, and final results were correlated with the main preexisting problems. RESULTS: Final results for syndromic patients varied, depending on the syndrome and the age at which the procedure was performed. Monobloc frontofacial advancements had a low index of immediate postoperative complications, but there was a clear need for further procedures at the time of final facial growth. The index of positive outcome was higher in patients who underwent surgery at an older age. CONCLUSIONS: In cases of severe craniosynostosis with functional problems, monobloc frontofacial advancement is still the best therapeutic option.

Craniofacial malformation treatment: craniosynostosis and positional plagiocephaly

After the publication of the modern Virchow's suture fusion hypothesis regarding craniosynostosis, various types of linear craniotomy have been developed. However, after the Moss's functional matrix hypothesis became known, extensive cranial remodeling surgical procedures have emerged. However, a recent view that the cause of craniosynostosis may be due to gene mutation has led to a tendency toward treating craniosynostosis with minimally invasive surgery including endoscopic surgery and distraction procedures that utilize springs or distractors. As nonsyndromic craniosynostoses are accompanied by unilateral coronal or lambdoid craniosynostosis, and syndromic craniosynostoses are accompanied by facial anomalies, it is presumed that cranial anomalies are accompanied by facial anomalies. However, the "back to sleep" campaign that was initiated in the 1990's in order to prevent infantile death syndrome led to research in the dramatic increase in the incidence of craniofacial anomalies, which resulted in the establishment of the positional plagiocephaly concept, which has also been ascertained in animal experiments. Despite these advances, the basic problem of whether craniosynostosis is simply a cosmetic anomaly or whether it is a neurological disease that is accompanied by complications such as increased intracranial pressure has not been resolved. The consequent confusion has prevented establishment of the optimal timing for surgery and the type of surgical procedure. The authors of this study review the history of craniosynostosis treatment and attempt to clarify the situation pertaining to the surgical treatment concepts and limitations.

Estudo antropométrico das assimetrias craniofaciais na craniossinostose coronal unilateral / Anthropometric study of craniofacial asymmetry in unilateral coronal synostosis

INTRODUÇÃO: A craniossinostose coronal unilateral (CCU) é a ossificação prematura da sutura coronal unilateralmente e provoca uma deformidade em 3 dimensões, que pode afetar o crânio e as órbitas. O objetivo do presente trabalho foi aferir e comparar a assimetria do crânio e face dos pacientes portadores de CCU no período pré e pós-operatório. MÉTODO: Nove pacientes foram submetidos à correção da craniossinostose coronal unilateral, entre janeiro de 2007 a dezembro de 2010. Quatro pacientes foram do sexo feminino e cinco do sexo masculino. Foram aferidas medidas da região craniofacial para quantificar o índice de assimetria craniofacial no período pré-operatório e compará-lo com o período pós-operatório. O índice de assimetria craniofacial (IAC) foi determinado pela diferença entre as medidas craniofaciais diagonais obtidas com o goniômetro. RESULTADOS: A idade média dos pacientes submetidos à correção de CCU foi de 2 anos e 1 mês. O tempo médio de cirurgia foi de 2 horas e 46 minutos. O volume médio de sangue transfundido foi de 280 ml. A média das diferenças das medidas diagonais obtidas com o goniômetro no período pré-operatório (IAC) foi de 1,045 e do pós-operatório de 1,009 (p=0,0109), indicando forte tendência à simetria craniofacial após o ato cirúrgico. CONCLUSÃO: O tratamento proposto para as CCU foi eficiente na obtenção de simetria craniofacial. Foi necessária a sobrecorreção das estruturas ósseas para obtenção de simetria óssea no período pós-operatório.

INTRODUCTION: Unilateral coronal synostosis (UCS) is a premature fusion of the coronal suture and leads to a three-dimensional deformity that affects the cranium and orbits. The aim of this study was to compare craniofacial skeleton asymmetry preoperatively and postoperatively. METHODS: This is a retrospective study with nine patients who underwent treatment of unilateral coronal synostosis, between January 2007 and December 2010. Four patients were female and five male. The craniofacial measurements were done to quantify an index of craniofacial asymmetry preoperatively and compare to those obtained postoperatively. The craniofacial index (CI) was obtained by calculating the difference between the higher oblique measurement of the craniofacial skeleton and lower oblique measurement of the craniofacial skeleton. RESULTS: The average age of the patients who had undergone to unilateral coronal synostosis correction was 2 years and 1 month. The average time of surgery was 2 hours and 46 minutes. The blood volume transfused was 280 cc. The CI preoperatively was 1.045 and postoperatively was 1.009 (p=0.0109), indicating a tendency to craniofacial symmetry. CONCLUSION: The treatment of UCS was efficient. Bone over correction was necessary to achieve its goal of symmetry in the postoperative period.

Effects of uterine cervix constriction on Wistar rats / Efeitos da constrição do cérvix uterino em ratos Wistar

PURPOSE: To verify if uterine cerclage can induce craniosynostosis or any cranial deformity in new born Wistar rats. METHODS: One pregnant female Wistar rat underwent laparotomy on day 18 of gestation and the uterus cervix was closed with a 3-0 nylon suture to avoid delivery, that occurs normally on the 21 day. The suture was released after 48 hours beyond the normal gestation period. The female rat delivered 11 pups. Six surviving rats from the delivery (group A - constrained group). Two rats were born from another mother and in the same age were used as control group (group B - 2 nonconstrained controls) were allowed to grow. They were sacrificed 1.2 years after their birth all the eight animals. Linear measurement, routine histology and computed tomography of the skull were performed at the time of their death to evaluate the cranial asymmetries by mesurements of the anatomical landmarks of the craniofacial skeleton of the rats on the two groups and compared then. RESULTS: We did not observe statistically significant differences in any of the compared measurements (p>0.05) obtained through the morphologic and radiologic methods. Histologic examinations did not reveal any sign of premature fusion or suture imbrications. Critical decrease in longitudinal body size was noticed as the limbs too in all the animals of group A. CONCLUSION: Constriction of uterine cervix leads to fetus suffering, even death for a few animals, associated to small body size, but not to craniosynostosis.

OBJETIVO: Verificar se a cerclagem intra-uterina pode induzir, ao nascimento de ratos Wistar, craniossinostose ou qualquer outra deformidade craniana. MÉTODOS: Uma rata Wistar prenhe foi submetida à laparotomia no 18º dia de gestação e o cérvix uterino foi suturado com 3-0 nylon, impedindo o parto normal que normalmente ocorre no 21º dia de gestação. A sutura foi liberada 48 horas após o período gestacional normal. A rata gestante deu à luz 11 animais. Seis ratos sobreviveram ao parto (grupo A com restrição). Dois ratos nascidos de outra mãe e com a mesma idade foram utilizados como controle (grupo B sem restrição controle) durante o seu crescimento. Os oito animais foram sacrificados após 1,2 ano. Medidas lineares, histologia e tomografia computadorizada foram utilizadas para a aferição de assimetrias cranianas através da mensuração de pontos anatômicos do esqueleto craniofacial dos ratos dos dois grupos. RESULTADOS: Não foi observada diferença estatisticamente significante entre as medidas obtidas nos ratos dos dois grupos (p>0,05) obtidas através de métodos morfológicos e radiológicos. As análises histológicas não revelaram sinais de fusão prematura da suturas do crânio. Diminuição do segmento corpóreo, bem como do tamanho dos membros foi evidenciado em todos os animais do grupo A. CONCLUSÃO: A restrição do cérvix uterino levou ao sofrimento fetal, morte de alguns animais e diminuição do tamanho do corpo de todos os animais, mas não craniossinostose.

Anomalías craneofaciales / Craniofacial abnormalities

Las malformaciones craneofaciales son algunas de las patologías más prevalentes en la edad pediátrica. Podemos distinguir dos grandes grupos: las producidas por un cierre precoz de las suturas del esqueleto craneofacial, las craneosinostosis y faciocraneosinostosis; y las que actualmente se pueden considerar neurocrestopatías, como los síndromes de primer y segundo arcos branquiales y las fisuras orofaciales como la fisura labiopalatina. Se describen las principales características de los síndromes más frecuentes y los tratamientos, desde los más empleados a los más innovadores, como las técnicas endoscópicas y las de distracción ósea.

Craniofacial abnormalities are some of the most prevalent malformations in children. We can distinguish two groups: those caused by an early closure of the sutures of the craniofacial skeleton, as craniosynostoses and faciocranioynostosis; and those that are considered neural crest anomalies, like the first and second brachial arch syndromes, and cleft lift and palate. The authors discuss the major characteristics of the most frequent syndromes, as well as treatment modalities, including the most popular and the most recent ones, like endoscopic and bone distraction techniques.

Materiais absorvíveis na cirurgia da cranioestenose: revisão de 72 casos operados com 2 anos de acompanhamento / Resorbable internal fixation in 72 craniosynostosis surgery in a 2 year follow-up

A cranioestenose ou craniosinostose é o fechamentoprecoce das suturas cranianas, que pode restringir o crescimentoencefálico, levando a seqüelas como hipertensão intracraniana,distúrbios de desenvolvimento e alterações morfológicas doesqueleto craniofacial. Nos últimos dez anos, o tratamento cirúrgicoda cranioestenose evoluiu muito em decorrência da introdução denovos materiais para osteossíntese e fixação da barra supra-orbitária.Objetivo: Avaliar a incidência de complicações e intercorrências nosítio operatório associadas ao uso de materiais absorvíveis empacientes submetidos a tratamento cirúrgico de cranioestenoses(co-polímero polilacticoglicólico 82-18%). Método: Estudo retrospectivoque avaliou 72 pacientes, no período de março de 2002 adezembro de 2005, comparando dois grupos: grupo controle, quenão utilizou o material; e grupo de estudo, que utilizou. As variáveis dedesfecho foram clínicas: presença de deiscência de ferida operatória,seroma e reintervenção cirúrgica no sítio operatório. Resultados: Nãohouve diferença estatisticamente significativa na freqüência dasvariáveis estudadas à comparação dos dois grupos. Conclusão: Aosteossíntese com sistemas absorvíveis em cirurgia craniofacialpediátrica é segura e proporciona maior estabilidade de resultados,sem correlação com intercorrências pós-operatórias relacionadas àincidência de reações em sítio operatório.

The craniostenose or craniosynostose is the earlyclosure of cranial sutures that can limit encephalic growth withsequelas like cranial hypertension, growth disturbs andmorphologic alterations of craniofacial skeleton. In the last tenyears, the surgical treatment of the craniostenose has developeda lot due to the introduction of new materials for osteosyntheseand supraorbital fixation. Objective: Evaluate the incidence ofcomplications in the operative site associated with thereabsorbable materials in patients submitted to surgicaltreatment of craniosynostose (polilacticoglicolico co-polymers82-18%). Methods: Retrospective study that evaluated 72patients from March 2002 to December 2005 comparing 2groups – control group that didn’t use the material and groupthat used. The results were evaluated clinically: presence ofdehiscence on operative wound, seroma and surgicalreintervention. Results: No statistic difference in the frequence ofthe 2 groups compared. Conclusion: The osteosynthese withreabsorbable systems used in pediatric craniofacial surgery aresafe and afford more stability of results without correlated postoperativecomplications due to local reactions.

Aspectos fonoaudiológicos na síndrome de Crouzon: estudo de caso / Speech-language aspects on Crouzon syndrome: case study

TEMA: descrever os aspectos fonoaudiológicos de um caso de Síndrome de Crouzon, com idade de 6:4 anos, submetendo-o às avaliações das áreas de fala, linguagem, cognição, sistema estomatognático e audição. PROCEDIMENTOS: o sujeito foi submetido às seguintes avaliações: ABFW, Prova de Vocabulário Receptivo, Avaliação do Desenvolvimento de Linguagem-Cognição, Avaliação de Estruturas e Funções do Sistema Estomatognático, Audiometria Tonal Limiar, Imitanciometria e Logoaudiometria. RESULTADOS: a Audiometria Tonal identificou perda auditiva condutiva de grau moderado bilateralmente, apresentando compatibilidade com a Logoaudiometria e a Imitanciometria. A Avaliação de Sistema Estomatognático indicou tônus de estruturas diminuído, com postura e mobilidade alteradas. As funções de sucção, mastigação, deglutição e respiração mostraram-se alteradas. Na avaliação da Fonologia, identificaram-se simplificação do encontro consonantal, plosivação de fricativa e outros. Em Fluência, os dados estavam abaixo do esperado para a mesma faixa etária e sexo. Na prova de Pragmática o número de atos por minuto foi 14,4, apresentando como meio comunicativo predominante o gestual. Na prova de Vocabulário Receptivo, o valor total de designações usuais estava 7,1 por cento abaixo do valor de referência. No Vocabulário Expressivo, os dados apontaram para referência entre 4 e 5 anos, abaixo dos parâmetros esperados para a idade do sujeito do estudo. Em Linguagem e Cognição, as análises indicaram defasagem em relação à fase de desenvolvimento. CONCLUSÃO: os comprometimentos causados pela síndrome são difusos e interligados, tendo a importância desse estudo apresentar os aspectos fonoaudiológicos de um caso de Síndrome de Crouzon e fornecer dados para aprofundar a investigação fonoaudiológica e o processo terapêutico.

BACKGROUND: to describe the results of speech, language, cognition, stomatognathic system and hearing assessments of a case of Crouzon syndrome at the age 6:4 years. PROCEDURE: the subject carried out the following evaluations: ABFW, Test of Receptive Vocabulary, Language-Cognition Development Evaluation, Evaluation of Structures and Functions of the Stomatognathic System, pure-tone audiometry threshold, immitance measures and vocal audiometry. RESULTS: the pure-tone audiometry identified bilateral moderate conductive hearing loss, compatible with vocal audiometry's and immitance measures' results. The stomatognathic system evaluation showed that the structures had reduced tonus and altered posture and mobility. Suction, chewing, deglutition and breathing functions were also altered. Phonologically, the following processes were identified: Cluster Simplification, Stopping of Fricatives and Others. In the Fluency evaluation, subject's performance was below the expected scores for matched age and gender. In the Pragmatics test, the child had 14.4 acts per minute and, predominantly, gestural communication. The Receptive Vocabulary Test showed scores 7.1 percent below reference. In the Expressive Vocabulary Test, data indicated a performance compatible to the reference values of 4 and 5 year-old children, below the expected scores for the subject's age. Regarding language and cognition, the analysis indicated a gap between the child's performance and the developmental level. CONCLUSION: the deficits caused by the syndrome are diffuse and interconnected. The present study had the aim to present the Speech-Language and Hearing Pathology associated aspects of a Crouzon syndrome case and to provide initial data to further investigate these aspects and the intervention process.