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1.
J Craniofac Surg ; 30(2): 483-488, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30688816

RESUMO

Orbital asymmetry in unicoronal synostosis impacts craniofacial appearance and can potentiate functional visual disturbances, such as strabismus. Surgical treatment aims to normalize overall cranial morphology, including that of the orbits. The purpose of this study was to compare postoperative changes in orbital asymmetry following 2 common procedures.Preoperative and 1-year postoperative computed tomography scans for patients with isolated, nonsyndromic unicoronal synostosis treated from 2007 to 2012, at 2 academic institutions were analyzed. Only patients treated by endoscopic suturectomy and postoperative helmeting or bilateral fronto-orbital advancement were included. Orbital index, depth, and volume asymmetry were determined for each patient both pre- and 1-year postoperatively. Student's t-tests were used to compare pre- and postoperative asymmetries within each treatment group. Regression analyses were used to examine postoperative change in asymmetry between treatment groups.Scans from 12 patients treated by fronto-orbital advancement and 23 treated by endoscopic suturectomy were analyzed. Differences between synostotic and nonsynostotic orbital index, depth, and volume were statistically significant both pre- and postoperatively. Statistically significant postoperative improvements in asymmetry were observed for orbital index, depth, and volume following suturectomy. Regression analysis indicated that the amount of pre- to postoperative change in all measures of asymmetry did not depend on surgical technique. Residual asymmetry following both procedures was apparent at 1 year postoperatively.Orbital asymmetry is improved, but not resolved following both fronto-orbital advancement and endoscopic suturectomy. Degree of improvement in symmetry is independent of surgical technique used.


Assuntos
Craniossinostoses/cirurgia , Assimetria Facial/cirurgia , Órbita/anormalidades , Procedimentos Ortopédicos/métodos , Craniossinostoses/diagnóstico por imagem , Craniossinostoses/patologia , Endoscopia , Assimetria Facial/congênito , Assimetria Facial/diagnóstico por imagem , Feminino , Humanos , Lactente , Masculino , Órbita/diagnóstico por imagem , Órbita/cirurgia , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Resultado do Tratamento
2.
J Craniofac Surg ; 30(2): 366-369, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30531285

RESUMO

: Cranial index is a widely used 2-dimensional measure of skull form. It has traditionally been calculated as a ratio of the maximal cranial width divided by the maximal skull length. Nevertheless, the points of maximal skull length change dramatically in sagittal craniosynostosis due to variable degrees of frontal and occipital bossing. Therefore, such anatomical changes influence the calculated cranial index. METHOD: This is a retrospective comparative study of 2 methods of measuring cranial index; the traditional method that measures the skull length from glabella to opithcranion versus a modified method that measures the maximal skull length from the most anterior point of the frontal bossing to opithcranion. Cranial indices for 115 patients of radiologically and clinically diagnosed nonsyndromic sagittal craniosynostosis were calculated using both methods. Correlation and Agreements Limits were calculated for comparison between the 2 methods. RESULTS: Males constituted 74.8% (n = 86) of the total sample size with the remaining 29 participants identified as female. The mean age of the study participants was 4.8 months (range 8 days-12 months). The 2 methods were strongly correlated (r = 0.94). The Agreement Limits were calculated to be between 4.02% and 0.18%. CONCLUSION: Typical anatomical changes such as variable degrees of frontal and occipital bossing influence the accuracy of cranial index measurement in sagittal craniosynostosis. Traditional method of cephalic index measurement could underestimate the severity of scaphocephaly.


Assuntos
Cefalometria/métodos , Craniossinostoses/patologia , Crânio/anatomia & histologia , Cefalometria/normas , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Padrões de Referência , Estudos Retrospectivos
3.
J Craniofac Surg ; 29(5): 1174-1180, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29762326

RESUMO

AIM: This study chronicles skull base and face development in nonsyndromic unilateral coronal synostosis (UCS) during infancy, to characterize the mechanistic progression of facial dysmorphology. METHODS: Computed tomography scans from 51 subjects were reviewed (26 UCS, 25 controls) and data were reconstructed. Patients were stratified into 5 age groups. A series of measurements were taken from the reconstructions. RESULTS: All patients had a unilaterally fused coronal suture at the time of analysis. Asymmetry of the sphenoid wings was present across all age groups. The sphenoid wing ipsilateral to the fused suture consistently had a more acute angle from the midline. At 19 days of age, ipsilateral nasal root and cribriform plate deviation are noted, as well as increased contralateral zygoma antero-posterior length. Patients younger than 2 months also had elongated posterior cranial bases. At 2 to 3 months of age, the cranial base widens in the anterior portion of the middle cranial fossa with an increased ipsilateral pterion to sella distance. The most delayed change observed was the increase in contralateral orbital rim angle at 7 to 12 months of age compared to normal. CONCLUSION: After suture fusion, sphenoid wing changes are among the earliest restructural malformations to take place. This suggests that the cascade of dysmorphology in UCS originates in the cranial vault, then progresses to the skull base, and lastly to the facial structures. Ipsilateral orbital changes are early facial changes in UCS that begin before 2 months of age. This is then followed by changes in the contralateral face later in development.


Assuntos
Craniossinostoses/diagnóstico por imagem , Craniossinostoses/patologia , Crânio/crescimento & desenvolvimento , Crânio/patologia , Animais , Osso Etmoide/diagnóstico por imagem , Osso Etmoide/crescimento & desenvolvimento , Osso Etmoide/patologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Órbita/diagnóstico por imagem , Órbita/crescimento & desenvolvimento , Órbita/patologia , Crânio/diagnóstico por imagem , Base do Crânio/diagnóstico por imagem , Base do Crânio/crescimento & desenvolvimento , Base do Crânio/patologia , Osso Esfenoide/diagnóstico por imagem , Osso Esfenoide/crescimento & desenvolvimento , Osso Esfenoide/patologia , Tomografia Computadorizada por Raios X , Zigoma/diagnóstico por imagem , Zigoma/crescimento & desenvolvimento , Zigoma/patologia
4.
PLoS One ; 13(5): e0196959, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29738556

RESUMO

The largest differences in intraspecific head shape among the Carnivora order are to be found in dogs. Based on their skull morphotypes, dog breeds are currently classified as dolichocephalic, mesaticephalic and brachycephalic. Due to the fact that some breeds have not been yet defined, this classification is incomplete; moreover, multi-breed studies on the skull morphology of puppies have never been performed. The aim of this work was to verify (i) whether differences in the skull conformation of purebred puppies are already present within the first week of age; (ii) whether radiographic and anatomic measures could be considered interchangeable, and (iii) to possibly classify puppies from non-categorized breeds thanks to their radiographic cranial measurements using neural nets. One hundred and thirty-seven dead puppies aged 0-7 days were examined considering their anatomic and radiographic measures. All linear measures and anatomic indices significantly differed among brachycephalic and non-brachycephalic puppies. Radiographic indices, with the exception of CI, identified the three skull morphotypes (p<0.05, for all comparisons). Radiographic and anatomic measures proved to be non-interchangeable in newborn puppies. Finally, nineteen puppies belonging to 5 non-categorized breeds could be classified thanks to neural nets in the three skull morphotypes with different probability (P between 0,66 and 0,95).


Assuntos
Cefalometria , Craniossinostoses/diagnóstico por imagem , Crânio/diagnóstico por imagem , Animais , Animais Recém-Nascidos , Craniossinostoses/patologia , Craniossinostoses/veterinária , Cães , Radiografia , Crânio/anatomia & histologia
5.
Plast Reconstr Surg ; 141(4): 559e-570e, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29595734

RESUMO

BACKGROUND: Cranial base sutures are important drivers of both facial and cranial growth. The purpose of this study was to compare the incidence and location of cranial base suture fusion among three groups: nonaffected controls, patients with nonsyndromic craniosynostosis, and patients with syndromic craniosynostosis. METHODS: Patients and computed tomographic scans were accrued from the authors' prospective craniofacial database. Computed tomographic scans were graded on the frequency of cranial vault and cranial base suture/synchondrosis fusion (0, open; 1, partially/completely fused) by an attending craniofacial surgeon and neuroradiologist. Statistical comparisons were conducted on location and rates of fusion, age, and diagnosis. RESULTS: One hundred forty patients met inclusion criteria: 55 syndromic, 64 nonsyndromic, and 21 controls. Average age at computed tomography of syndromic patients (3.6 ± 3.1 months) was younger than that of nonsyndromic patients (5.4 ± 3.1 months; p = 0.001) and control subjects (5.1 ± 3.2 months; p = 0.058). Syndromic craniosynostotic patients had over three times as many cranial base minor sutures fused (2.2 ± 2.5) as nonsyndromic craniosynostosis patients (0.7 ± 1.2; p < 0.001) and controls (0.4 ± 0.8; p = 0.002), whose rates of fusion were statistically equivalent (p = 0.342). Syndromic craniosynostosis patients had a greater frequency of cranial base suture fusion in the coronal branches, squamosal arch, and posterior intraoccipital synchondrosis (p < 0.05). CONCLUSIONS: Patients with syndromic craniosynostosis have higher rates of cranial base suture fusion in infancy, especially in the coronal arches, and this may have significant implications for both cranial and facial growth. In contrast, patients with nonsyndromic craniosynostosis have similar rates and sites of cranial base suture fusion as controls. Interestingly, there is a low, "normal," rate of cranial base suture/synchondrosis closure in infancy, the implications of which are unknown. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, III.


Assuntos
Suturas Cranianas/patologia , Craniossinostoses/patologia , Estudos de Casos e Controles , Suturas Cranianas/diagnóstico por imagem , Craniossinostoses/diagnóstico por imagem , Feminino , Humanos , Lactente , Modelos Logísticos , Masculino , Razão de Chances , Tomografia Computadorizada por Raios X
6.
J Vet Med Sci ; 80(5): 766-771, 2018 May 18.
Artigo em Inglês | MEDLINE | ID: mdl-29593167

RESUMO

The aim of the study was to correlate the clinical severity of pectus excavatum with its type and degree based on objective radiographic evaluation. Twelve brachycephalic dogs were included. Grading of the clinical severity was done based on a 6-point grading score. Thoracic radiographs were used to calculate the frontosagittal and vertebral indices at the tenth thoracic vertebra and the vertebra overlying the excavatum. Correlation between the clinical severity score and frontosagittal and vertebral indices was evaluated using Pearson's correlation coefficient. Typical pectus excavatum was recorded in the caudal sternum in seven dogs, with a mean clinical severity score of 1.7 ± 1.4, whereas in five dogs, atypical mid-sternal deviation was recorded with a mean clinical severity score of 3.8 ± 0.7. A strong correlation (r=0.7) was recorded between the clinical severity score and vertebral index in the atypical form, whereas a weak correlation (r=0.02) was recorded in the typical form (P<0.05). The clinical severity and degree of pectus excavatum was poorly correlated (r=0.3) in the typical form of pectus excavatum, whereas it was strongly correlated (r=0.9) in the atypical form. Pectus excavatum in dogs is associated with compressive cardiopulmonary dysfunction, which depends mainly on the site/type of deviation rather than the degree of deviation.


Assuntos
Craniossinostoses/veterinária , Doenças do Cão/patologia , Cães , Tórax/anormalidades , Animais , Craniossinostoses/diagnóstico por imagem , Craniossinostoses/patologia , Doenças do Cão/diagnóstico por imagem , Feminino , Masculino , Radiografia Torácica/veterinária , Tórax/diagnóstico por imagem
7.
Adv Exp Med Biol ; 1046: 249-268, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29442326

RESUMO

Zic genes are strongly expressed in the cerebellum. This feature leads to their initial identification and their name "zic," as the abbreviation of "zinc finger protein of the cerebellum." Zic gene function in cerebellar development has been investigated mainly in mice. However, association of heterozygous loss of ZIC1 and ZIC4 with Dandy-Walker malformation, a structural birth defect of the human cerebellum, highlights the clinical relevance of these studies. Two proposed mechanisms for Zic-mediated cerebellar developmental control have been documented: regulation of neuronal progenitor proliferation-differentiation and the patterning of the cerebellar primordium. Clinical studies have also revealed that ZIC1 gain of function mutations contribute to coronal craniosynostosis, a rare skull malformation. The molecular pathways contributing to these phenotypes are not fully explored; however, embryonic interactions with sonic hedgehog signaling, retinoic acid signaling, and TGFß signaling have been described during mouse cerebellar development. Further, Zic1/2 target a multitude of genes associated with cerebellar granule cell maturation during postnatal mouse cerebellar development.


Assuntos
Cerebelo , Craniossinostoses , Síndrome de Dandy-Walker , Células-Tronco Neurais , Transdução de Sinais/genética , Fatores de Transcrição , Animais , Cerebelo/crescimento & desenvolvimento , Cerebelo/fisiologia , Craniossinostoses/genética , Craniossinostoses/metabolismo , Craniossinostoses/patologia , Síndrome de Dandy-Walker/genética , Síndrome de Dandy-Walker/metabolismo , Síndrome de Dandy-Walker/patologia , Humanos , Camundongos , Proteínas do Tecido Nervoso/genética , Proteínas do Tecido Nervoso/metabolismo , Células-Tronco Neurais/metabolismo , Células-Tronco Neurais/patologia , Fatores de Transcrição/genética , Fatores de Transcrição/metabolismo
8.
J Craniofac Surg ; 29(4): 852-855, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29461367

RESUMO

BACKGROUND: Children with craniosynostosis have abnormal head shapes. Parents frequently ask whether the abnormal head shape will get worse with time. However, there is no information in the literature to indicate whether the deformity gets worse. OBJECTIVE: To assess the progression of cranial morphology in children with unoperated craniosynostosis. METHODS: A retrospective review of all children with unoperated sagittal craniosynostosis who were referred to the Craniofacial Clinic at the Hospital for Sick Children (SickKids) was conducted. Serial 3D photographs of patients with sagittal craniosynostosis who have not undergone surgical correction were included in the study. There were 14 cases included, with 9 males and 5 females. Ages at time of scans ranged from 3 months to 5 years of age (mean = 28.3 months, SD = 28.2 months). Nine patients had the first scan at age of <12 months. Multiple scans for each patient were sized for volume over time and compared with a normative skull database. RESULTS: The results of measuring skull volume changes over time revealed no significant difference from infants without craniosynostosis. Furthermore, there cranial index was stable over time in patients with craniosynostosis. CONCLUSION: The severity of craniosynostosis does not worsen or improve with time. Parents having difficulty in deciding to proceed with surgical correction of craniosynostosis can be reassured that the skull deformity will remain stable with the growth of their child if they decide not to proceed with surgical correction.


Assuntos
Craniossinostoses , Crânio , Pré-Escolar , Craniossinostoses/diagnóstico por imagem , Craniossinostoses/patologia , Bases de Dados Factuais , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Crânio/diagnóstico por imagem , Crânio/patologia
9.
J Craniomaxillofac Surg ; 46(4): 624-627, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29426585

RESUMO

We describe a novel measurement of cranial morphology in pre- and post-operative scaphocephalic patients to complement the cephalic index. This will better describe restoration of normal skull and head shape, further defining the nuances of the corrected skull. In this retrospective comparative study the location of the euryon on the skull was statistically significantly different in preoperative scaphocephalic patients versus non-scaphocephalic controls. This difference was resolved with surgical cranial vault remodeling, indicating restoration of a normal skull profile. Additional measurements of the location of the euryon in relation to the forehead prominence, combined with validated cephalic index measurements, can further describe postoperative outcomes in scaphocephaly. More sensitive clinical measurements such as these can aid the craniofacial surgeon in assessing outcomes in cranial vault remodeling. Further, large-scale study is needed to determine if additional anterior skull metric points may be useful in documenting skull shape restoration.


Assuntos
Craniossinostoses/patologia , Crânio/anatomia & histologia , Cefalometria , Pré-Escolar , Craniossinostoses/diagnóstico por imagem , Craniossinostoses/cirurgia , Humanos , Lactente , Imagem por Ressonância Magnética , Radiografia , Crânio/diagnóstico por imagem , Crânio/patologia , Crânio/cirurgia , Tomografia Computadorizada por Raios X
10.
Plast Reconstr Surg ; 141(2): 250e-260e, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29369995

RESUMO

BACKGROUND: The pathophysiology of nonsyndromic craniosynostosis remains poorly understood. The authors seek to understand the cause of this condition with a specific focus on how osteoclasts may contribute to craniosynostosis. Here, the authors characterize proteins differentially expressed in patent and fused cranial sutures by comparing their respective proteomes. METHODS: Fused and patent suture samples were obtained from craniosynostotic patients undergoing surgery at a single academic medical center. Extracted protein from samples was interrogated using mass spectrometry. Differential protein expression was determined using maximum likelihood-based G-test with a q-value cutoffs of 0.5 after correction for multiple hypothesis testing. Immunolocalization of lead protein candidates was performed to validate proteomic findings. In addition, quantitative polymerase chain reaction analysis of corresponding gene expression of proteins of interest was performed. RESULTS: Proteins differentially expressed in patent versus fused sutures included collagen 6A1 (Col6A1), fibromodulin, periostin, aggrecan, adipocyte enhancer-binding protein 1, and osteomodulin (OMD). Maximum likelihood-based G-test suggested that Col6A1, fibromodulin, and adipocyte enhancer-binding protein 1 are highly expressed in patent sutures compared with fused sutures, whereas OMD is up-regulated in fused sutures compared with patent sutures. These results were corroborated by immunohistochemistry. Quantitative polymerase chain reaction data point to an inverse relationship in proteins of interest to RNA transcript levels, in prematurely fused and patent sutures that potentially describes a feedback loop mechanism. CONCLUSIONS: Proteome analysis validated by immunohistochemistry may provide insight into the mechanism of cranial suture patency and disease from an osteoclast perspective. The authors results suggest a role of inflammatory mediators in nonsyndromic craniosynostosis. Col6A1 may aid in the regulation of suture patency, and OMD may be involved in premature fusion. Additional validation studies are required.


Assuntos
Suturas Cranianas/metabolismo , Craniossinostoses/patologia , Osteoclastos/metabolismo , Proteoma/metabolismo , Adolescente , Criança , Pré-Escolar , Cromatografia Líquida de Alta Pressão/métodos , Colágeno Tipo VI/metabolismo , Suturas Cranianas/fisiopatologia , Craniossinostoses/etiologia , Craniossinostoses/cirurgia , Proteínas da Matriz Extracelular/metabolismo , Humanos , Imuno-Histoquímica , Proteoglicanas/metabolismo , Proteômica/métodos , RNA Mensageiro/metabolismo , Reação em Cadeia da Polimerase em Tempo Real , Transdução de Sinais , Espectrometria de Massas em Tandem/métodos , Regulação para Cima
11.
Eur J Med Genet ; 61(3): 161-167, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29174089

RESUMO

We describe a patient severely affected with multiple congenital anomalies, including brain malformations and skeletal dysplasia suggestive of cranioectodermal dysplasia (CED) ciliopathy, who unusually carries several homozygosity tracts involving homozygous missense mutations in SPAG17 (exon 8; c.1069G > C; p.Asp357His) and WDR35 (exon 13; c.1415G > A; p.Arg472Gln) as revealed by homozygosity mapping and next generation sequencing. SPAG17 is essential for the function and structure of motile cilia, while WDR35 belongs to the same intraflagellar transport (IFT) gene family whose protein products are part of functional IFT A and B complexes. Formerly, SPAG17 was related - through polymorphic variants - to an influence on individuals' height; more recently, Spag17-/- mice models were reported to present skeletal and bone defects, reduced mucociliary clearance, respiratory distress, and cerebral ventricular enlargement. Homozygous or compound heterozygous mutations in WDR35 have mainly been related to CED2 or short-rib thoracic dysplasia 7, with only three cases showing some brain anomalies. Given that our patient presents these clinical features and the close functional relationship between SPAG17 and WDR35, it is feasible that the combined effects from both mutations contribute to his phenotype. To our knowledge, this patient is the first to harbor a likely pathogenic homozygous mutation in both genes at the same time. Thus, the resulting complex phenotype of this patient illustrates the heterogeneity associated with ciliopathies and further expands the clinical and mutational spectrum of these diseases. Finally, we highlight the combined use of high-throughput tools to diagnose and support the proper handling of this and other patients.


Assuntos
Anormalidades Múltiplas/genética , Osso e Ossos/anormalidades , Encefalopatias/genética , Ciliopatias/genética , Craniossinostoses/genética , Displasia Ectodérmica/genética , Proteínas Associadas aos Microtúbulos/genética , Mutação de Sentido Incorreto , Proteínas/genética , Anormalidades Múltiplas/patologia , Adolescente , Osso e Ossos/patologia , Encefalopatias/complicações , Encefalopatias/patologia , Criança , Ciliopatias/complicações , Ciliopatias/patologia , Craniossinostoses/complicações , Craniossinostoses/patologia , Displasia Ectodérmica/complicações , Displasia Ectodérmica/patologia , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Homozigoto , Humanos , Masculino , Fenótipo
12.
J Craniofac Surg ; 29(1): 76-81, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29065051

RESUMO

Cranial dysmorphology observed in patients with metopic craniosynostosis varies along a spectrum of severity including varying degrees of metopic ridging, bitemporal narrowing, and trigonocephaly. Management has been based upon the subjective clinical impression of presence and severity of trigonocephaly. Severity of cranial dysmorphology does not predict the occurrence or severity of associated abnormal neurodevelopment, as children with mild-to-moderate trigonocephaly may also experience developmental delays. The authors sought to determine the relationship between mild-to-moderate trigonocephaly and anterior cranial volume using a noninvasive laser shape digitizer (STARscanner) in patients with abnormal head shape.An IRB-approved retrospective review of a prospectively maintained database and medical records was performed. Two hundred three patients less than 1 year of age with abnormal head shape were categorized as having a metopic ridge with mild-to-moderate trigonocephaly, metopic ridge without trigonocephaly, or no ridge. Measurements of cranial volume, circumference, and symmetry were calculated by the STARscanner, which quantifies three-dimensional shape of the cranial surface. Measures were analyzed using a series of analyses of variance and post-hoc Tukey honest significant difference.The authors results showed ACV was significantly reduced in patients with mild-to-moderate trigonocephaly compared with those without metopic ridge (P = 0.009), and trended toward significance compared with those with a ridge but without trigonocephaly (P = 0.072). The ratio of anterior-to-posterior cranial volume was significantly reduced in those with mild-to-moderate trigonocephaly compared with those without metopic ridge (P = 0.036).In conclusion, patients with milder anterior cranial deformities demonstrated an association between a metopic ridge with mild-to-moderate trigonocephaly and reduced anterior cranial volume.


Assuntos
Cefalometria/métodos , Craniossinostoses/patologia , Lasers , Crânio/patologia , Feminino , Humanos , Lactente , Masculino , Tamanho do Órgão , Estudos Retrospectivos
13.
J Craniomaxillofac Surg ; 45(11): 1842-1845, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28974353

RESUMO

BACKGROUND: Although the charting of normal intracranial volume (ICV) is fundamental for managing craniosynostosis, Asian norms in this regard are unknown. The purpose of this study was to establish a growth curve for ICVs in a large series of normal Asian children, providing reference values to guide corrective surgery. METHODS: A total of 124 normal children (male, 63; female, 61) and 41 children diagnosed with craniosynostoses were analyzed. Patients aged 0-8 years presenting to the emergency room and subjected to computed tomography (CT) for head trauma served as the reference cohort. Axial CT head scan data were obtained from radiographic archives at Jichi Medical University. Imaging was done on a Siemens CT scanner (5-mm slice thickness), using a DICOM viewer to measure ICVs. RESULTS: ICVs were plotted against age, and best-fit logarithmic curves for normal subjects were generated, without and with gender stratification. Male and female growth curves were similar in shape but diverged past the age of 1 year (male > female). ICVs of patients with craniosynostoses were plotted to male and female growth curves by disease subset, revealing the following: sagittal synostosis, near normal (or marginally larger); metopic synostosis, below normal; other non-syndromic synostoses (unilateral, bilateral, and lambdoidal) and Crouzon syndrome, near normal; Apert syndrome, above normal; and Pfeiffer syndrome, variable. CONCLUSION: ICVs of early childhood were investigated in Asian subjects, creating growth curves that set criteria for timing, planning and goalsetting in surgical correction of craniosynostosis.


Assuntos
Grupo com Ancestrais do Continente Asiático , Craniossinostoses/cirurgia , Crânio/crescimento & desenvolvimento , Cefalometria/métodos , Criança , Pré-Escolar , Craniossinostoses/patologia , Estética , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Valores de Referência , Fatores Sexuais , Crânio/diagnóstico por imagem , Tomografia Computadorizada por Raios X
14.
J Craniofac Surg ; 28(7): 1725-1729, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28885438

RESUMO

BACKGROUND: The authors hypothesized that patients with unicoronal craniosynostosis (UCS) have deviation of the vault, cranial base, and face resulting in significant differences in skull base morphology and segmental cranial vault volume relative to nonaffected controls. METHODS: Unicoronal craniosynostosis patients were collected from the authors' IRB-approved, prospective, craniofacial registry; controls were from a trauma registry. Mimics software was used to compare those with UCS to controls for a series of standardized craniometric angles and distances. A segmented volumetric analysis of anterior, middle, and posterior cranial fossae was performed, as well. RESULTS: The study included 18 patients with UCS and 19 controls. Nearly all angles measured were statistically different in UCS versus controls. Overall cranial vault volume did not differ between UCS and controls (P = 0.250). Three volumetric ratios comparing the synostosed side to the contralateral were significantly less than controls: anterior (0.44 ±â€Š0.03 versus 0.5 ±â€Š0.01, P < 0.001), middle (0.45 ±â€Š0.02 versus 0.5 ±â€Š0.02, P < 0.001), posterior (0.46 ±â€Š0.02 versus 0.50 ±â€Š0.02, P < 0.001). The ratio of total middle volume to total cranial volume was larger in UCS patients versus controls, but the posterior ratio was smaller: anterior (0.13 ±â€Š0.02 versus 0.12 ±â€Š0.02, P = 0.545), middle (0.50 ±â€Š0.05 versus 0.42 ±â€Š0.04, P = 0.001), posterior (0.37 ±â€Š0.05 versus 0.45 ±â€Š0.03, P = 0.001). CONCLUSIONS: This study provides quantitative evidence of the degree of angulation and torsion of the cranial base in UCS and its profound effect on volumetric differences in the cranial vault, with significant restriction on the synostosed side and compensatory expansion on the nonsynostosed side. Future work will focus on the effects of volumetric differences on cerebral architecture and postoperative volumetric changes.


Assuntos
Cefalometria , Craniossinostoses , Base do Crânio/patologia , Estudos de Casos e Controles , Craniossinostoses/epidemiologia , Craniossinostoses/patologia , Humanos
15.
J Craniofac Surg ; 28(7): 1757-1760, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28885443

RESUMO

The temporal contour deformity typical of metopic synostosis is often referred to as temporal hollowing, but has not been quantitatively defined. This deformity is present before surgery and remains to a varying extent at long-term follow-up. The present study aimed to objectively evaluate the degree of this contour deformity in metopic synostosis before and after surgical correction.All children surgically treated for metopic synostosis at Sahlgrenska University Hospital between 2002 and 2014 (n = 120) with appropriate computed tomography scans (n = 160) performed preoperatively and/or at follow-up at 3 years of age were included. Depending on age, 1 of 2 surgical techniques was used. Children presenting before the age of 6 months were treated with frontal remodeling in combination with a spring (S group), whereas children older than 6 months were treated with a bone transplant (BT group). The bony temporal deformity was measured with a semiautomatic MATLAB program and patients were compared to sex- and age-matched controls.The deformity was significantly reduced in both groups (P < 0.001). In the S group, it was reduced from a mean ±â€Šstandard deviation of 3.6 ±â€Š1.9% to 1.0 ±â€Š1.2% and in the BT group, it was reduced from 3.3% ±â€Š1.4% to 1.1% ±â€Š0.8%.The contour deformity in metopic synostosis is present both before and after surgery and should therefore be termed temporal retrusion (TR). This assessment method enables objective comparison of TR before and after surgical correction and is a potential tool to evaluate TR in metopic synostosis.


Assuntos
Transplante Ósseo/métodos , Craniossinostoses/cirurgia , Procedimentos Cirúrgicos Reconstrutivos/métodos , Osso Temporal/cirurgia , Pré-Escolar , Craniossinostoses/diagnóstico por imagem , Craniossinostoses/patologia , Osso Frontal/diagnóstico por imagem , Osso Frontal/patologia , Osso Frontal/cirurgia , Humanos , Lactente , Osso Temporal/diagnóstico por imagem , Osso Temporal/patologia , Tomografia Computadorizada por Raios X
16.
J Craniofac Surg ; 28(8): 2030-2035, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28922245

RESUMO

PURPOSE: The effect of synostosis is not confined to the immediate vicinity of the suture. The authors hypothesized metopic craniosynostosis results in migration of lateral structures from midline, and differences in segmental volume of the cranial fossa. METHODS: A retrospective case-controlled cohort analysis of patients with nonsyndromic metopic craniosynostosis was performed. Craniometric angles, distances to landmarks from midline, cephalic index, and segmented volume ratios were calculated. A comparison group consisted of patients without cranial pathology or with mild positional plagiocephaly. RESULTS: Twenty patients with metopic craniosynostosis and 19 controls were identified. The bifrontal angle was significantly more acute in metopic patients. Distance from midline to the medial carotid, the foramen ovale, and the hypoglossal canal were all significantly longer in metopic patients. Ratio of anterior third to total cranial vault volume was significantly smaller in metopic patients; however, ratio of middle third to total cranial vault volume was significantly larger. As the bifrontal angle decreased by 1°, the volume of the anterior third of the cranial vault was observed to decrease by 0.17% (P < 0.001). CONCLUSIONS: Patients with metopic craniosynostosis show a distinct and significant transverse lateralization of structures of the anterior skull base relative to midline, significant restriction of the anterior third of the cranial vault, and compensatory expansion of the middle third. There is a linear relationship between the bifrontal angle and the subsequent change in anterior third cranial vault volume. LEVEL OF EVIDENCE: IV; Therapeutic.


Assuntos
Craniossinostoses/diagnóstico por imagem , Craniossinostoses/patologia , Base do Crânio/diagnóstico por imagem , Base do Crânio/patologia , Pontos de Referência Anatômicos/diagnóstico por imagem , Estudos de Casos e Controles , Cefalometria , Suturas Cranianas/diagnóstico por imagem , Feminino , Humanos , Lactente , Masculino , Plagiocefalia não Sinostótica/diagnóstico por imagem , Plagiocefalia não Sinostótica/patologia , Estudos Retrospectivos , Tomografia Computadorizada por Raios X
17.
Am J Med Genet A ; 173(10): i, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28921853

RESUMO

The cover image, by Rani A. Bashir et al., is based on the Original Article Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders, DOI: 10.1002/ajmg.a.38355.


Assuntos
Craniossinostoses/patologia , Histona Acetiltransferases/genética , Mutação , Fenótipo , Craniossinostoses/genética , Humanos , Síndrome
18.
J Neurosurg Pediatr ; 20(5): 410-418, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28841109

RESUMO

OBJECTIVE Endoscope-assisted repair of sagittal craniosynostosis was adopted at St. Louis Children's Hospital in 2006. This study examines the first 100 cases and reviews the outcomes and evolution of patient care protocols at our institution. METHODS The authors performed a retrospective chart review of the first 100 consecutive endoscopic repairs of sagittal craniosynostosis between 2006 and 2014. The data associated with length of hospital stay, blood loss, transfusion rates, operative times, cephalic indices (CIs), complications, and cranial remolding orthosis were reviewed. Measurements were taken from available preoperative and 1-year postoperative 3D reconstructed CT scans. RESULTS The patients' mean age at surgery was 3.3 ± 1.1 months. Of the 100 patients, 30 were female and 70 were male. The following perioperative data were noted. The mean operative time (± SD) was 77.1 ± 22.2 minutes, the mean estimated blood loss was 34.0 ± 34.8 ml, and the mean length of stay was 1.1 ± 0.4 days; 9% of patients required transfusions; and the mean pre- and postoperative CI values were 69.1 ± 3.8 and 77.7 ± 4.2, respectively. Conversion to open technique was required in 1 case due to presence of a large emissary vein that was difficult to control endoscopically. The mean duration of helmet therapy was 8.0 ± 2.9 months. Parietal osteotomies were eventually excluded from the procedure. CONCLUSIONS The clinical outcomes and improvements in CI seen in our population are similar to those seen at other high-volume centers. Since the inception of endoscope-assisted repair at our institution, the patient care protocol has undergone several significant changes. We have been able to remove less cranium using our "narrow-vertex" suturectomy technique without affecting patient safety or outcome. Patient compliance with helmet therapy and collaborative care with the orthotists remain the most essential aspects of a successful outcome.


Assuntos
Craniossinostoses/cirurgia , Neuroendoscopia , Perda Sanguínea Cirúrgica , Transfusão de Sangue , Craniossinostoses/patologia , Craniossinostoses/reabilitação , Feminino , Seguimentos , Humanos , Lactente , Tempo de Internação , Masculino , Duração da Cirurgia , Aparelhos Ortopédicos , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento
19.
Bone ; 105: 57-66, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28826843

RESUMO

Tyrosine kinase inhibitors are being developed for therapy of malignancies caused by oncogenic FGFR signaling but little is known about their effect in congenital chondrodysplasias or craniosynostoses that associate with activating FGFR mutations. Here, we investigated the effects of novel FGFR inhibitor, ARQ 087, in experimental models of aberrant FGFR3 signaling in cartilage. In cultured chondrocytes, ARQ 087 efficiently rescued all major effects of pathological FGFR3 activation, i.e. inhibition of chondrocyte proliferation, loss of extracellular matrix and induction of premature senescence. In ex vivo tibia organ cultures, ARQ 087 restored normal growth plate architecture and eliminated the suppressing FGFR3 effect on chondrocyte hypertrophic differentiation, suggesting that it targets the FGFR3 pathway specifically, i.e. without interference with other pro-growth pathways. Moreover, ARQ 087 inhibited activity of FGFR1 and FGFR2 mutants associated with Pfeiffer, Apert and Beare-Stevenson craniosynostoses, and rescued FGFR-driven excessive osteogenic differentiation in mouse mesenchymal micromass cultures or in ex vivo calvarial organ cultures. Our data warrant further development of ARQ 087 for clinical use in skeletal disorders caused by activating FGFR mutations.


Assuntos
Compostos de Anilina/uso terapêutico , Diferenciação Celular , Condrócitos/patologia , Craniossinostoses/tratamento farmacológico , Craniossinostoses/patologia , Mutação/genética , Quinazolinas/uso terapêutico , Receptores de Fatores de Crescimento de Fibroblastos/genética , Transdução de Sinais , Compostos de Anilina/farmacologia , Animais , Técnicas de Cultura de Células , Diferenciação Celular/efeitos dos fármacos , Proliferação de Células/efeitos dos fármacos , Sistema Livre de Células , Senescência Celular/efeitos dos fármacos , Galinhas , Condrócitos/efeitos dos fármacos , Condrócitos/metabolismo , Craniossinostoses/genética , Matriz Extracelular/efeitos dos fármacos , Matriz Extracelular/metabolismo , Fator 2 de Crescimento de Fibroblastos/farmacologia , Botões de Extremidades/patologia , Camundongos , Técnicas de Cultura de Órgãos , Quinazolinas/farmacologia , Ratos , Crânio/patologia , Tíbia/efeitos dos fármacos , Tíbia/patologia
20.
J Vet Intern Med ; 31(5): 1487-1501, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28833532

RESUMO

BACKGROUND: Cat breeders observed a frequent occurrence of internal hydrocephalus in Persian cats with extreme brachycephalic head morphology. OBJECTIVE: To investigate a possible relationship among the grade of brachycephaly, ventricular dilatation, and skull dysmorphologies in Persian cats. ANIMALS: 92 Persian-, 10 Domestic shorthair cats. METHODS: The grade of brachycephaly was determined on skull models based on CT datasets. Cranial measurements were examined with regard to a possible correlation with relative ventricular volume, and cranial capacity. Persians with high (peke-face Persians) and lower grades of brachycephaly (doll-face Persians) were investigated for the presence of skull dysmorphologies. RESULTS: The mean cranial index of the peke-face Persians (0.97 ± 0.14) was significantly higher than the mean cranial index of doll-face Persians (0.66 ± 0.04; P < 0.001). Peke-face Persians had a lower relative nasal bone length (0.15 ± 0.04) compared to doll-face (0.29 ± 0.08; P < 0.001). The endocranial volume was significantly lower in doll-face than peke-face Persians (89.6 ± 1.27% versus 91.76 ± 2.07%; P < 0.001). The cranial index was significantly correlated with this variable (Spearman's r: 0.7; P < 0.0001). Mean ventricle: Brain ratio of the peke-face group (0.159 ± 0.14) was significantly higher compared to doll-face Persians (0.015 ± 0.01; P < 0.001). CONCLUSION AND CLINICAL RELEVANCE: High grades of brachycephaly are also associated with malformations of the calvarial and facial bones as well as dental malformations. As these dysmorphologies can affect animal welfare, the selection for extreme forms of brachycephaly in Persian cats should be reconsidered.


Assuntos
Doenças do Gato/patologia , Craniossinostoses/veterinária , Hidrocefalia/veterinária , Crânio/anormalidades , Animais , Doenças do Gato/diagnóstico por imagem , Gatos , Cefalometria/veterinária , Craniossinostoses/diagnóstico por imagem , Craniossinostoses/patologia , Estudos Transversais , Feminino , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/patologia , Imagem por Ressonância Magnética/veterinária , Masculino , Crânio/diagnóstico por imagem , Tomografia Computadorizada por Raios X/veterinária , Microtomografia por Raio-X/veterinária
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