Becker DB, Fundakowski CE, Govier DP, et al. Long-term osseous
morphologic outcome of surgically treated unilateral coronal craniosynostosis.
Plast Reconstr Surg 2006;117:929-35.
BACKGROUND: Unilateral coronal craniosynostosis has characteristic osseous dysmorphology that persists into adulthood if untreated. Knowledge of the long-term in vivo osseous morphologic outcome of surgically treated unilateral coronal craniosynostosis patients is limited. The purpose of this study was to define the osseous morphology of adolescent patients who underwent surgery for unilateral coronal craniosynostosis in infancy, compared with both their 1-year postoperative morphology and the morphology of other individuals with untreated unilateral coronal craniosynostosis. METHODS: Three populations of unilateral coronal craniosynostosis were studied: group 1, patients with surgical treatment of unilateral coronal craniosynostosis in infancy who had reached dentoskeletal maturity, ranging in age from 13.5 to 32.7 years (n= 9); group 2, individuals with untreated unilateral coronal craniosynostosis, ranging in age from 1.1 to 21 years (n= 11); and group 3, a subset of group 1 patients 1 year after surgical correction of unilateral coronal craniosynostosis, ranging in age from 1.2 to 2.6 years (n= 6). Data from high-resolution, thin-slice computed tomographic scans of the head were analyzed. Thirty-five reproducible osseous landmarks were recorded as three-dimensional coordinates using ETDIPS imaging software. Nonmidline landmarks were designated as either ipsilateral or contralateral to the synostosis. One researcher performed all landmarking with high intrarater reliability (average error, <2 mm). Data from the three groups were analyzed for asymmetry using Euclidean distance matrix analysis techniques. RESULTS: Euclidean distance matrix analysis asymmetry analysis demonstrated more statistically significant ipsilateral-contralateral asymmetric pairs in group 1 (68 of 135) than in group 3 (25 of 135), but fewer statistically significant ipsilateral-contralateral asymmetric pairs than in group 2 (93 of 135). CONCLUSIONS: Surgical treatment of unilateral coronal craniosynostosis in infancy results in a less asymmetric craniofacial skeleton in adolescence than nontreatment. However, patients who have been followed to dentoskeletal maturity have a greater degree of asymmetry than those evaluated at 1 year postoperatively. These results support the conclusion that with time there is a partial reversion to the untreated phenotype.
Lin CY, Su YJ, Chu SL, et al. A VR Planning system for craniosynostosis
surgery. Stud Health Technol Inform 2005;119:328-30.
The goal of our project is to build a system which could utilize the Virtual Reality (VR) techniques for the pre-operative planning of craniosynostosis. The system includes different modules. We use the tetrahedral volume meshes for the basic structure for the models which surgery is planning on. This paper will describe the procedures of above stages, from the processing of 2D image slices, 3D modeling, smoothing, simplification, and visibility ordering, to volume meshes generation. We have demonstrated the initial results on a variety of stereo devices. The testing results show the processing time is acceptable and the rendering effect is pretty well.
Morriss-Kay GM, Wilkie AO. Growth of the normal skull vault
and its alteration in craniosynostosis: Insights from human genetics and experimental
studies. J Anat 2005;207:637-53.
The mammalian skull vault is constructed principally from five bones: the paired frontals and parietals, and the unpaired interparietal. These bones abut at sutures, where most growth of the skull vault takes place. Sutural growth involves maintenance of a population of proliferating osteoprogenitor cells which differentiate into bone matrix-secreting osteoblasts. Sustained function of the sutures as growth centres is essential for continuous expansion of the skull vault to accommodate the growing brain. Craniosynostosis, the premature fusion of the cranial sutures, occurs in 1 in 2500 children and often presents challenging clinical problems. Until a dozen years ago, little was known about the causes of craniosynostosis but the discovery of mutations in the MSX2, FGFR1, FGFR2, FGFR3, TWIST1 and EFNB1 genes in both syndromic and non-syndromic cases has led to considerable insights into the aetiology, classification and developmental pathology of these disorders. Investigations of the biological roles of these genes in cranial development and growth have been carried out in normal and mutant mice, elucidating their individual and interdependent roles in normal sutures and in sutures undergoing synostosis. Mouse studies have also revealed a significant correspondence between the neural crest-mesoderm boundary in the early embryonic head and the position of cranial sutures, suggesting roles for tissue interaction in suture formation, including initiation of the signalling system that characterizes the functionally active suture.
Byeon JH, Yoo G. Cerebral salt wasting syndrome after calvarial
remodeling in craniosynostosis. J Korean Med Sci 2005;20:866-9.
Hyponatremia and increased urine output after calvarial remodeling have been noted in pediatric patients with craniosynostosis. If not treated properly, patients develop hypoosmotic conditions that can lead to cerebral edema, increased intracranial pressure, and collapsed circulation. Postoperative hyponatremia after central nervous system surgery is considered as the syndrome of inappropriate antidiuretic hormone (SIADH) secretion. Recently, however, cerebral salt wasting syndrome (CSWS) instead of SIADH has been reported frequently. CSWS is associated with a decreased serum sodium level, increased urinary sodium level, increased urine output, decreased ECF volume, increased atrial natriuretic peptide (ANP) level, and increased brain natriuretic peptide (BNP) level. We experienced nine patients with craniosynostosis who underwent calvarial remodeling. By postoperative day 1, the ANP and BNP levels increased by 3-6 folds compared with the preoperative levels. They returned to the normal levels by postoperative day 5. The ADH level was within the normal range even after operation. The urinary sodium level increased in all patients by postoperative day 1 and 3. But the serum sodium level, and serum and urine osmolarity were normal due to appropriate replacement of sodium and fluid. After calvarial remodeling, the potential development of CSWS should be considered and distinguished from SIADH. The patients with CSWS require normal saline resuscitation and should prophylactically receive normal saline.
Hayward R, Gonsalez S. How low can you go? Intracranial pressure,
cerebral perfusion pressure, and respiratory obstruction in children with
complex craniosynostosis. J Neurosurg 2005;102(1 Suppl):16-22.
OBJECT: Elevated intracranial pressure (ICP) is a well-recognized complication affecting children suffering from complex forms of craniosynostosis. The effects of ICP, including those on vision, and the underlying mechanisms involved remain uncertain. The aim of this study was to examine the relationships among ICP, cerebral perfusion pressure (CPP), and the episodic alterations in respiratory obstruction that are common in children with craniosynostosis. METHODS: Eleven children with complex craniosynostosis underwent monitoring overnight, including simultaneous recording of subdural ICP, arterial blood pressure (ABP), and a variety of respiratory parameters. Sleep status was also analyzed. Mean values were calculated for all variables, including ICP, CPP, and ABP, during both quiet and active sleep. Mean ICP during quiet sleep was elevated in five patients, borderline in three, and normal in three children. During active sleep, plateaus of high mean ICP were observed in all patients. Marked decreases in CPP were demonstrated during active sleep with absolute values as low as 14 mm Hg. During quiet sleep, the mean baseline CPP was 53.3 mm Hg (range 34-70 mm Hg). During active sleep, CPP fell to a mean of 32.6 mm Hg (range 23-52 mm Hg). All patients experienced obstructive breathing problems, including 10 with obstructive sleep apnea, the effects of which demonstrated a temporal relationship to the alterations in sleep status, ICP, and CPP. Elevations of ABP appeared modest and remained within the normal limits for age. CONCLUSIONS: The findings of this study indicate that ICP, CPP, and respiratory obstruction interact in a vicious cycle, an observation that helps explain the pattern of plateau waves of elevated ICP characteristic among children with complex forms of craniosynostosis. The data gathered in this series revealed levels of CPP considerably lower than those described previously in clinical reports. Such reductions in CPP most likely contribute to the neurological, cognitive, and ophthalmological morbidity from which these children suffer frequently; therefore, the results of this study have important implications for the management of children with complex forms of craniosynostosis as well as for our understanding of the control of cerebral blood flow in general.
Becker DB, Petersen JD, Kane AA, et al. Speech, cognitive,
and behavioral outcomes in nonsyndromic craniosynostosis. Plast Reconstr Surg
BACKGROUND: The neuropsychological morbidity of nonsyndromic craniosynostosis is incompletely understood. The purpose of this study was to establish the prevalence of speech-language, cognitive, and behavioral abnormalities in this population and to stratify the findings on the basis of the affected suture and age of diagnosis with speech-language or psychological abnormalities. METHODS: Charts of all patients with nonsyndromic craniosynostosis evaluated between 1978 and 2000 were reviewed, noting diagnoses of speech-language, cognitive, or behavioral abnormalities. Findings were statistically analyzed for variance with regard to affected suture and diagnosis of abnormalities. RESULTS: Two hundred fourteen patients with nonsyndromic craniosynostosis had documented follow-up evaluations with an average age of 6 years 4 months at last visit. Speech, cognitive, and/or behavioral abnormalities were manifest in 49 percent of the patients with specific rates for each suture as follows: right unilateral coronal, 61 percent; bilateral coronal, 55 percent; multiple, 47 percent; metopic, 57 percent; left unilateral coronal, 52 percent; lambdoid, 44 percent; and sagittal, 39 percent. This prevalence of abnormalities was a statistically significant increase from the general population. Logistic regression demonstrated that as patient age increased, the percentage of abnormal diagnoses also increased. CONCLUSIONS: Nonsyndromic craniosynostosis is often associated with cognitive, speech, and/or behavioral abnormalities. The etiopathology of this association is unknown. Furthermore, the proportion of children diagnosed with cognitive and behavioral dysfunction increases with age. Therefore, longitudinal cognitive, behavioral, and speech assessment and treatment are integral to the care of these patients.
Di Rocco C. Craniosynostosis in old Greece: Political power
and physical deformity. Childs Nerv Syst 2005;21:859. No abstract available.
Goodrich JT. Skull base growth in craniosynostosis. Childs
Nerv Syst 2005;21:871-9.
INTRODUCTION: The interrelationship of skull base growth and craniosynostosis is one that is not often taken into account in the clinical management of patients with craniofacial disorders by neurosurgeons and craniofacial surgeons. Very early on in our medical training we are taught the anatomical differences between the calvarial unit and skull base portion of the skull. The inherent differences in both underlying tissue components and the different growth characteristics of these two uniquely different structures are critical in understanding skull base growth in craniosynostosis and the inherent potential craniofacial growth in these unique children. REVIEW: This paper will review some of the basic anatomy of these zones of growth plus review some of the prevalent theories of the effect of skull base growth on craniosynostosis and the converse. CONCLUSION: While the theories of these growth patterns have yet to be finalized an understanding of their potential influences and abnormal growth patterns remain key to providing a good surgical outcome in surgery for craniosynostosis.
Tamburrini G, Caldarelli M, Massimi L, et al. Intracranial
pressure monitoring in children with single suture and complex craniosynostosis:
A review. Childs Nerv Syst 2005;21:913-21.
INTRODUCTION: One third of patients with craniofacial dysostosis syndromes and about 15-20% of children with single suture craniostenosis have a documented increase in intracranial pressure (ICP). The early detection of intracranial hypertension is important in order to reduce the risks for brain development and visual function. However, in children with craniosynostosis, the clinical manifestations of abnormally increased ICP are difficult to detect, as the majority of patients may have neither warning signs nor symptoms for a long period of time. REVIEW: Moreover, data from the literature suggest that neither fundoscopic nor radiological findings are necessarily related to intracranial pressure recordings in this type of pathology. In this context prolonged ICP monitoring seems actually to be the most valuable diagnostic tool. Extradural, subdural, and intraparenchymal devices have been used, and different softwares have been employed for PC storage and analysis of the data obtained. Most recent series consider mean ICP combined with plateaux waves as the most sensitive indicators in the final evaluation of the results. CONCLUSIONS: The analysis of the literature demonstrates a significant difference in the prevalence of raised ICP preoperatively between non-syndromic and syndromic patients. Among the non-syndromic children, a direct relation between the number of sutures involved and raised ICP is documented. The analysis of plateaux waves seems to be particularly important in children with borderline mean ICP values. Persistent postoperative raised ICP has been described in 6-15% of patients with craniofacial dysostosis. It must be related to the multifactorial etiology of increased ICP in these patients, which includes cerebral venous congestion, upper airway obstruction, and hydrocephalus.
Warschausky S, Angobaldo J, Kewman D, et al. Early development
of infants with untreated metopic craniosynostosis. Plast Reconstr Surg 2005;115:1518-23.
BACKGROUND: The purpose of this archival descriptive study was to examine the associations among craniosynostosis, perinatal risk factors or complications, and early cognitive development in infants diagnosed with craniosynostosis before they underwent surgery, to provide a greater empirical basis for surgical decision making and other early interventions. Specifically, it was hypothesized that there would be a greater number of infants with developmental delays than seen in the normative population. Furthermore, it was hypothesized that greater severity of synostosis would be correlated with lower cognitive and developmental scores. The secondary purpose of this study was to examine specific developmental domains such as language and motor skills in children with metopic craniosynostosis. METHODS: The research subjects for this retrospective cross-sectional study were a consecutive series of 22 infants diagnosed with metopic synostosis: 86 percent male, ages 3.6 to 25.3 months (mean +/- SD, 10.6 +/- 6.4 months). Mean gestational age was 38.8 (2.3) months, mean birth weight was 107.7 ounces, and 48.1 percent subsequently had craniovault reconstruction. Severity of craniosynostosis was assessed by a plastic surgeon (Buchman) and a neurosurgeon (Muraszko) and was confirmed radiographically by an independent rater (Angobaldo). Cognitive status was assessed with the Bayley Scales of Infant Development, Second Edition, at a mean age 11.6 (4.8) months. RESULTS: The mean Mental Development Index score for the sample was 96.0 (14.5), falling within the average range. Severity of synostosis was not significantly correlated with the overall Mental Development Index score. The mean language quotient for the sample was 77.3 (21.1). CONCLUSIONS: Despite suspicions that increased severity of deformity in infants with metopic craniosynostosis correlates with decreased cognitive and motor development, no such associations could be demonstrated. The results of this study did suggest, however, that children with isolated metopic craniosynostosis might show specific developmental delays in language acquisition. Finally, there were no significant correlations between cognitive development and prenatal risk factors.
Di Rocco C, Tamburrini G, Pietrini D. Blood sparing in craniosynostosis
surgery. Semin Pediatr Neurol 2004;11:278-87.
One of the main risks of craniosynostosis surgery is the possible need for an allogenic blood transfusion (ABT). Most patients are operated on in the first months of life, when physiological conditions are particularly sensitive to even limited blood losses. Furthermore, most surgical techniques proposed in the past were based on extensive craniectomies and cranial remodeling. Because of the known infective and immunologic risks of ABT, in recent years more attention has been dedicated to factors that might help reduce the risk of ABT. We review recent preoperative (ie, erythropoietin administration), intraoperative (ie, acute normovolemic hemodilution, intraoperative blood salvage), and postoperative (ie, clinical monitoring, postoperative blood salvage) anesthesiologic procedures developed with this aim in mind. We also consider operative techniques and technical apparatus that reduce surgical invasiveness, particularly preoperative planning, age selection, and the role of endoscopic assistance and gradual distraction devices.
Guimaraes-Ferreira J, Miguens J, Lauritzen C. Advances in
craniosynostosis research and management. Adv Tech Stand Neurosurg 2004;29:23-83.
The purpose of the present paper is to analyze the most recent advances in the field of craniosynostosis basic and clinical research and management, and to give an overview of the more frequently adopted surgical strategies. After reviewing some basic concepts regarding normal craniofacial embryology and growth, aetiopathogenesis of craniosynostosis and craniofacial dysostosis, classification and diagnosis and historical evolution of surgical treatment, the authors elaborate on a selection of topics that have modified our current understanding of and therapeutical approach to these disease processes. Areas covered include advances in molecular biology and genetics, imaging techniques and surgical planning, resorbable fixation technology, bone substitutes and tissue engineering, distraction osteogenesis and the spring-mediated cranioplasties, resorbable distractor devices, minimally invasive surgery and in utero surgery. A review of the main subtypes of craniosynostosis and craniofacial dysostosis is presented, including their specific clinical features and a commentary on the presently available surgical options.
Calisaneller T, Bavbek M, Demirhan B, et al. The value of
expanded polytetrafluoroethylene in preventing early re-ossification after
craniosynostosis surgery: an experimental animal study in the rat. Acta Neurochir
(Wien) 2004;146:279-83; discussion 283.
BACKGROUND: Early re-ossification at the suturectomy site after craniosynostosis surgery remains an important problem. Many surgical methods have been used to address this, including placement of various types of absorbable and non-absorbable material between the bone edges at the site. This experimental study investigated the value of expanded polytetrafluoroethylene (ePTFE) membrane as a barrier to calvarial reclosure after craniosynostosis surgery in rats. METHOD: Thirty-five 2-week-old Sprague-Dawley rats were divided into two groups. In Group A (n = 17), ePTFE membranes were placed in the defect formed by a left coronal suturectomy. The Group B rats (n = 18) underwent left coronal suturectomy only. Animals were sacrificed at 1, 2 and 4 months postoperatively. In each case, the skull was removed and the operative site was examined for fibrosis, new bone formation, bone bridging, neovascularization and inflammatory response. FINDINGS: The two groups were similar with respect to neovascularization and new bone formation. By the end of the fourth postoperative month, 50% of the Group B specimens showed fibrosis and 50% showed bridging between the bone edges at the suturectomy site. In contrast, at the same stage in Group A, only 16.6% of the specimens exhibited a small amount of fibrosis, and none showed bone bridging between the edges. INTERPRETATION: Expanded PTFE is one of the most inert materials used in surgery. The study showed that inserting ePTFE membrane as a barrier between the bone edges at the suturectomy site prevents early re-ossification after craniosynostosis surgery in rats.
Nonaka Y, Oi S, Miyawaki T, et al. Indication for and surgical
outcomes of the distraction method in various types of craniosynostosis: Advantages,
disadvantages, and current concepts for surgical strategy in the treatment
of craniosynostosis. Childs Nerv Syst 2004.
BACKGROUND. Various surgical techniques for the treatment of craniosynostosis using distraction devices have been described over the last few years and we have applied these procedures in seven patients with varying types of craniosynostosis. The aim of this report is to clarify the advantages and disadvantages of these surgical methods and to discuss current concepts for the surgical strategy in the treatment of craniosynostosis. MATERIAL AND METHODS. From January 2001 to March 2003, 25 patients with craniosynostosis were examined. Among them, 7 patients, 5 with Apert syndrome, 1 with Crouzon disease, and 1 with multiple-synostosis, underwent surgical treatment using the distraction method with internal distraction devices, according to our treatment strategy for craniosynostosis. All patients underwent preoperative and postoperative evaluations, which included the patient’s neurological state, developmental quotient (DQ), and three-dimensional CT (3D-CT). RESULTS. The timing of the procedures undertaken was between the ages of 1 year 5 months and 12 years 6 months (mean age 4 years 11 months). Five patients had received previous treatment and this procedure was used as a secondary operation. Postoperative distraction distances varied from 7 to 20.5 mm (mean distraction distance: 14 mm). Satisfactory cranial volume expansion and aesthetically pleasing morphological states were achieved in all cases. Regarding complications, one patient required re-operation because of dislocation of the device and skin erosion caused by infection around the penetrated wound. Finally, in a second patient a distortion of the device occurred, but no re-operation was needed. CONCLUSION. The advantage of the distraction method is its applicability for toddler or elder children. One disadvantage is the difficulty in using it for Infantile Calvarial Normalization because of thin calvarial bones and the necessity for re-operation to remove the device, which may result in it becoming a “fixation procedure,” essentially contraindicated for the fast-developing brain and calvarias. However, the efficacy of this procedure is that the many advantages outweigh the disadvantages as sufficient calvarial expansion and good results using the distraction method, especially in toddler and elder children age groups, can be achieved.
Scheuerle J, Guilford AM, Habal MB. A report of behavioral
data on three groups of patients with craniofacial disorders. J Craniofac
Longitudinal follow-up data on development and school placement are presented for three groups of patients. Having had or not having had early surgical intervention and stimulation distinguishes the two groups of patients with craniosynostosis. The third group is patients with cleft lip and palate who received early intervention but did not achieve minimal criteria for communication by age 22 months. Educational placement (for patients 8 to 20 years of age) follows the pattern of distribution of students nationally for patients who had early intervention.
Meling TR, Orstavik KH, Heiberg A. Complex craniofacial synostoses.
Tidsskr Nor Laegeforen 2004;124:1230-4. [Article in Norwegian]
Abstract: BACKGROUND: Complex craniofacial synostosis is a group of rare genetic disorders characterized by premature closure of the sutures in the craniofacial skeleton and which to varying degrees affects the extremities. MATERIAL AND METHODS: On the basis of relevant literature, we present a review of syndromal craniofacial synostosis. RESULTS: Phenotypically, the complex craniofacial syndromes have many similarities. Synostosis of the sutures of the cranial vault can result in a variety of skull deformations, depending on the sutures involved, the sequence of premature closure, and the time of closure. Synostosis of the sutures in the skull base and facial skeleton leads to shallow orbits, exophthalmus, hypertelorism, midface retrusion, and prognathia. INTERPRETATION: Precise diagnosis of complex craniofacial syndromes may be difficult solely on the basis of a clinical examination. However, several of the most common syndromes are caused by mutations in genes that code for fibroblast growth-factor receptors. Children with a suspected complex craniofacial syndrome should be referred to genetic testing.
Haberl H, Hell B, Zockler MJ, et al. Technical aspects and
results of surgery for craniosynostosis. Zentralbl Neurochir 2004;65:65-74.
BACKGROUND: The timing and extent of surgery continue to be a matter of discussion in current craniosynostosis management. PATIENTS AND METHODS: We retrospectively reviewed the first 159 children seen from 1996 to 2000 of a total of 243 patients presenting with suspected craniosynostosis. We did not establish a surgical indication in 74 children (47%), either because their malformations were of different origin without associated craniosynostosis (11/7%) or they presented with only mild clinical manifestations of sutural synostosis (63/40%). In 85 cases (53%), we established a surgical indication. Parents did not follow our recommendation in two cases (1%). In 83 cases, we performed diagnosis-related remodeling at the age of 4-12 months. Demographic data, clinical follow-up findings, and regular photo documentation were analyzed. RESULTS: After a mean follow-up of 3 years and 8 months, the results were satisfactory in 68 cases (82%). Of 15 cases (18%) with only limited improvement, two children were submitted to a second intervention. Another two children had to be reoperated on immediately for insufficient hemostasis. In the largest subgroup of children (47) with sagittal synostosis, there was no difference in outcome between surgery performed before and after 6 months of age. DISCUSSION: Surgical indication and assessment of results are based on subjective criteria which limit the comparison with the literature. Our results correspond to those of similar published series. Most of the unfavorable results could be attributed either to inadequate adaptation of the surgical technique to the individual form of the malformation or to a significant secondary loss of correction in multi-sutural synostosis. CONCLUSIONS: The overall results of surgery within the first year of life were satisfactory in 82%. Standard procedures need to be adapted carefully to the individual form of craniosynostosis to avoid unfavorable results. We therefore propose a new surgical technique based on a statistically averaged modular system of skull models to replace freehand remodeling.
Ngo AV, Sze RW, Parisi MT, et al. Cranial suture simulator
for ultrasound diagnosis of craniosynostosis. Pediatr Radiol 2004.
Background: In evaluating the effectiveness of ultrasound as a screening tool for craniosynostosis it was discovered that sonologists and sonographers needed more experience scanning and visualizing cranial sutures on ultrasound. Objective: To create an ultrasound simulator to train radiologists and technologists to locate and recognize patent and fused cranial sutures in children. Materials and methods: The hypoechoic appearance of patent sutures was simulated by cutting lines into life-sized plastic doll heads and filling them with a commercial hypoechogenic material. Fused hyperechoic sutures were simulated by not cutting into the hard plastic region of a suture. The simulator’s teaching value was evaluated on three radiology residents and three fellows. Subjects performed pre-training scans on unknown simulators, received feedback and an opportunity to scan a training simulator, and then performed post-training scans on random unknown simulators. Accuracy was recorded as percentage of correctly demonstrated sutures. Results: The suture simulator reproduces the sonographic appearance of patent and fused cranial sutures. Accuracy of acquisition, interpretation, and overall diagnosis increased from 64 to 91%, 79 to 91%, 61 to 97%, respectively, between pre and post training scans. Conclusion: An ultrasound simulator can reproduce the appearance of patent and fused cranial sutures in children and can be used to train radiologists and technologists in the performance of a screening protocol.
Fearon JA. Reducing allogenic blood transfusions during pediatric
cranial vault surgical procedures: A prospective analysis of blood recycling.
Plast Reconstr Surg. 2004;113:1126-30.
Almost all patients who undergo major craniosynostosis corrections receive allogenic blood transfusions. This study of intraoperative blood salvage was undertaken in an attempt to further reduce the need for blood transfusions and to enhance the safety of these complex procedures. This prospective nonrandomized series included 60 consecutive children undergoing major cranial vault remodeling, primarily for treatment of craniosynostosis (single-suture and syndromic). A single craniofacial surgeon performed all operations, using a cell-saver equipped with a 55-cc pediatric bowl. The average age of the patients in this series was 4 years (33 of 60 patients were less than 18 months of age), and the average length of the surgical procedure was 196 minutes. Fifty-three percent were primary procedures and 47 percent were secondary. The mean estimated blood loss was 356 cc (19 cc/kg, or 28.5 percent of the estimated total blood volume). An average of 110 cc of cell-saver blood (range, 5 to 900 cc), or 7.8 percent of the patient’s estimated total blood volume (approximately 15 percent, accounting for hemoconcentration of the cell-saver blood), was recycled for transfusion. No statistically significant factors (primary versus secondary procedure, diagnosis, age, or weight) were identified as predictive indicators for the use of this technology. Although 59 of 60 patients received transfusions, only 18 (30 percent) received allogenic blood (average, approximately 140 cc). There were no complications associated with the use of the cell-saver device. Use of the cell-saver during major craniosynostosis repair seemed to be safe and was associated with an extremely low allogenic blood transfusion rate.
Ridgway EB, Weiner HL. Skull deformities. Pediatr Clin North
To recognize and make the proper diagnosis of a craniofacial abnormality, it is helpful for the pediatrician to understand the normal embryology, morphologic variations, and the characteristics, types, and timings of defects that can occur. It is important that pediatricians and other caregivers of infants and young children be able to recognize the common cranial abnormalities so that the families maybe properly counseled and referred to an appropriate multidisciplinary craniofacial center. Because the most common causes of distortion or asymmetry are craniosynostosis or deformation, these abnormalities are the primary subjects of this article.
Connolly JP, Gruss J, Seto ML, et al. Progressive postnatal
craniosynostosis and increased intracranial pressure. Plast Reconstr Surg
Since its first description by Virchow in 1851, craniosynostosis has been known as a potentially serious condition resulting in premature fusion of skull sutures. Traditionally, craniosynostosis has been regarded as an event that occurs early in fetal development, resulting in a skull shape at birth that is determined by the suture or sutures involved. In recent years, a different form of craniosynostosis has been observed. Patients initially come to the attention of physicians because they exhibit midface hypoplasia or occasionally hypertelorism. The affected individuals all have a normal skull shape and open sutures in infancy but develop multiple-suture craniosynostosis postnatally, ultimately requiring surgical correction. These cases are significant because, although the patients do not initially display the physical manifestations of craniosynostosis, they frequently develop increased intracranial pressure, which can have devastating consequences. Unless these patients are recognized and vigilant follow-up monitoring is instituted at an early age, permanent impairment can result. A retrospective chart review study was conducted, and patients with multiple-suture craniosynostosis who developed symptoms of increased intracranial pressure were selected. The patients were divided into two groups, namely, those with normal sutures and/or head shape at birth (progressive craniosynostosis) (n = 15) and those with abnormal head shapes at birth (classic syndromic craniosynostosis) (n = 12). Clinical and radiological findings typically used to monitor the development of increased intracranial pressure were reviewed for both groups and compared. In addition, mutational analyses were performed. All patients with progressive postnatal craniosynostosis demonstrated clinical, radiological, or ophthalmological evidence of increased intracranial pressure, requiring skull expansion. Those patients displayed papilledema, anterior fontanelle bulge, and thumbprinting more often than did the patients with classic craniosynostosis. Thirteen of 15 patients were given the clinical diagnosis of Crouzon syndrome, which raises the question of whether such patients represent a subset of patients with this syndrome. Mutational analyses for the patients with progressive craniosynostosis demonstrated that, of 13 patients tested, 11 had mutations in exon 7 or 9 of FGFR2, which is a common site of mutations in Crouzon syndrome. The traditional indications of increased intracranial pressure used to monitor patients with classic craniosynostosis can be used to monitor patients with progressive postnatal craniosynostosis, particularly anterior fontanelle bulge, papilledema, and thumbprinting. It is thought that regular monitoring of these characteristics may lead to earlier diagnosis and allow for surgical intervention before the development of undesirable outcomes. It is important for clinicians to be aware of this group of patients, because any delay in diagnosis and treatment can result in severe consequences for the patients.
Mooney MP, Moursi AM, Opperman LA, Siegel MI. Cytokine therapy
for craniosynostosis. Expert Opin Biol Ther 2004;4:279-99.
The birth prevalence of craniosynostosis (premature suture fusion) is 300 - 500 per 1,000,000 live births. Surgical management involves the release of the synostosed suture. In many cases, however, the suturectomy site rapidly reossifies, further restricts the growing brain and alters craniofacial growth. This resynostosis requires additional surgery, which increases patient morbidity and mortality. New findings in bone biology and molecular pathways involved with suture fusion, combined with novel tissue engineering techniques, may allow the design of targeted and complementary therapies to decrease complications inherent in high-risk surgical procedures. This paper selectively reviews recent advances in i) identifying genetic mutations and the aetiopathogenesis of a number of craniosynostotic conditions; ii) cranial suture biology and molecular biochemical pathways involved in suture fusion; and iii) the design, development and application of various vehicles and tissue engineered constructs to deliver cytokines and genes to cranial sutures. Such biologically based therapies may be used as surgical adjuncts to rescue fusing sutures or help manage postoperative resynostosis.
Fellows-Mayle WK, Mitchell R, Losken HW, et al. Intracranial
pressure changes in craniosynostotic rabbits. Plast Reconstr Surg 2004;113:557-65.
Cranial vault and brain deformities in individuals with craniosynostosis are thought to result, in part, from changes in intracranial pressure, but clinical findings are still inconclusive. The present study describes intracranial pressure changes in a rabbit model with naturally occurring, uncorrected coronal suture synostosis. Longitudinal and cross-sectional intracranial pressure data were collected from 241 New Zealand White rabbits, divided into four groups: normal controls (n = 81); rabbits with delayed-onset coronal suture synostosis (n = 78); rabbits with early-onset unilateral coronal suture synostosis (n = 32); and rabbits with early-onset bilateral coronal suture synostosis (n = 50). Epidural intracranial pressure measurements were obtained at 10, 25, 42, and 84 days of age using a NeuroMonitor microsensor transducer. Normal rabbits and rabbits with delayed-onset coronal suture and early-onset unilateral coronal suture synostosis showed a similar oscillating pattern of age-related changes in normal and head-down intracranial pressure from 10 to 84 days of age. In contrast, rabbits with early-onset bilateral coronal suture synostosis showed markedly elevated normal and head-down intracranial pressure levels from 10 to 25 days and showed a different pattern through 84 days. Results from one-way analysis of variance revealed significant (p < 0.01) group differences only at 25 days of age. Rabbits with early-onset bilateral coronal suture synostosis had significantly (p < 0.05) greater normal and head-down intracranial pressure (by 42 percent) than the other three groups. These results showed differing intracranial pressure compensations in rabbits with uncorrected multiple-suture synostosis compared with normal rabbits or rabbits with uncorrected single-suture synostosis, possibly through progressive cerebral atrophy and decreased intracranial volume, abnormal intracranial vascular patterns and blood volume, and/or differing cranial vault compensatory changes.
Boltshauser E, Ludwig S, Dietrich F, Landolt MA. Sagittal
craniosynostosis: Cognitive development, behaviour, and quality of life in
unoperated children. Neuropediatrics. 2003;34:293-300.
30 patients (23 m/7 f) with untreated, isolated sagittal craniosynostosis (ISC) were re-evaluated at an average age of 9.25 years (2.5 - 25.5). Assessed were neurological status, head shape, school performance, behaviour (with Child Behavior Checklist CBCL), quality of life (TACQOL questionnaire), and a detailed neuropsychological testing (30 patients, 17 siblings as controls). Almost all patients/parents were pleased with the current situation. The aesthetic appearance seemed less obvious compared to photos in infancy. Psychological adjustment as measured by the CBCL was well within normal range. There was a slight tendency for increased internalizing symptoms. TACQOL revealed a lower score for positive emotions. Total score and subscores of test batteries assessing general intellectual performance were in the average range. 6 patients had below average scores in subtests for learning and memory. 12 children had below average scores in one or more subtests for attention. These “deficits”were obviously not of functional importance as all children attended regular school classes (1 exception, an immigrant child of low socio-economic status). These reassuring results regarding school performances, behaviour, and quality of life as well as aesthetic outcome may be helpful when discussing the indication for surgical correction of ISC.
Clement R, Nischal K. Simulation of oculomotility in Craniosynostosis
patients. Strabismus 2003;11:239-42.
Craniosynostosis syndromes can be associated with missing extraocular muscles, or muscles with abnormal insertions, and so provide useful test cases for assessing our understanding of the mechanics of the extraocular muscles. Patients with craniosynostosis syndromes often show eye movements in which a horizontal movement by one eye is accompanied by upshoot or downshoot in the other eye. An hypothesis which has been put forward to explain these movements is that the muscles in the patients are excyclorotated and that the upshoots and downshoots follow directly from the application of Hering’s law of equal innervation. We modelled the mechanics of the excyclorotated muscles and verified this hypothesis. However, excyclorotation of the orbit often occurs in combination with anomalous muscle anatomy in craniosynostosis syndromes. In keeping with this finding, we have found that surgical transposition of the rectus muscles is insufficient by itself to correct the anomalous eye movements, but that transposition in combination with weakening of the obliques is effective.
Vernet O, Rilliet B, Kalina D, Cavin B. Craniosynostosis and positional cranial deformities: Diagnostic features and therapeutic implications. Rev Med Suisse Romande 2003;123:555-61. No abstract available. [Article in French.]
Polk JA, Woolridge N, Wilson-Pauwels L, et al. Improving
parents’ early recognition and understanding of infant cranial abnormalities
through Web-based 2-D animations of 3-D structures. J Biocommun 2003;29:16-20.
A prototype Web site, “HeadStart: a craniosynostosis and positional plagiocephaly resource,” was developed to help parents of children with cranial abnormalities access information about their child’s condition. An on-line survey of 30 parents confirmed the need for information regarding the early diagnosis and treatment of cranial abnormalities. Three methods of creating the illusion of 3-D in a 2-D interactive animation were investigated. The final prototype Web site was developed using a novel approach to rendering 3-D models for use on the Web using a non-photorealistic rendering technique which emulated a hand-drawn appearance. Many advantages were found when creating 2-D animations based on 3-D files. A formative evaluation with parents revealed that the 3-D feature added to their understanding of cranial structures and led to a more complete understanding of their child’s condition. Although the small sample size limits the ability to generalize about the success of including 3-D elements in educational programs, the research demonstrated that involving parents in the development process was successful in prioritizing the program content to fit with their needs.
Panchal J, Uttchin V. Management of craniosynostosis. Plast
Reconstr Surg 2003;111:2032-49.
Learning Objectives: After studying this article, the participant should be able to: 1. Review the etiopathogenesis of craniosynostosis and craniofacial anomalies. 2. Develop a basic understanding of the clinical manifestations and diagnosis of craniofacial anomalies. 3. Describe the surgical principles of managing craniosynostosis and craniofacial anomalies. Craniosynostosis, or the premature closure of calvarial sutures, results in deformed calvaria at birth. Although the etiology of craniosynostosis is currently unknown, animal experiments and a recent interest in molecular biology point toward interplay between the dura and the underlying brain. This interaction occurs by means of a local alteration in the expression of transforming growth factor, MSX2, fibroblast growth factor receptor, and TWIST. The fused suture restricts growth of the calvaria, thus leading to a characteristic deformation, each associated with a different type of craniosynostosis. Uncorrected craniosynostosis leads to a continuing progression of the deformity, and in some cases, an elevation of intracranial pressure. Clinical examination should include not only an examination of the skull but also a general examination to rule out the craniofacial syndromes that accompany craniosynostosis. Because deformational plagiocephaly, or plagiocephaly without synostosis, occurs secondary to sleeping in the supine position during the early perinatal period, the physician should be aware of this abnormality. Treatment for deformational plagiocephaly is conservative when compared with treatment for craniosynostosis, which requires surgery. Appropriate investigations should include genetic screening, radiologic examination with a computerized tomographic scan, and neurodevelopmental analysis. Surgical intervention should be performed during infancy, preferably in the first 6 months of postnatal life, to prevent the further progression of the deformity and possible complications associated with increased intracranial pressure. The principles of surgical intervention are not only to excise the fused suture but also to attempt to normalize the calvarial shape. Long-term follow-up is critical to determine the effect of the surgical outcome.
Delahaye S, Bernard JP, Renier D, Ville Y. Prenatal ultrasound
diagnosis of fetal craniosynostosis. Ultrasound Obstet Gynecol 2003;21:347-53.
OBJECTIVE: Craniosynostosis is defined as the premature closure of the calvarial sutures. The prevalence of this heterogeneous condition is 1 in 2000 and approximately 100 different forms have been described with an established genetic transmission in half of them. Prenatal diagnosis of craniosynostosis relies mainly on identification of associated anomalies and molecular analysis of fetal DNA, which is only feasible in some syndromic forms and in well-documented families. The objective of this study was to investigate the value of prenatal ultrasound examination of cranial sutures in fetuses at risk for craniosynostosis. METHODS: Forty fetuses at risk for craniosynostosis on the basis of either a family history (Group 1, n = 16) or skull deformity suspected on a first-level fetal ultrasound examination (Group 2, n = 24) were retrospectively investigated. Craniosynostosis was suspected on the basis of skull deformities when present, however the diagnosis was only made in cases where there was a loss of hypoechogenicity of the normal sutures. All infants had both clinical and radiological investigations performed postnatally. RESULTS: In Group 1, serial ultrasound examination from 12 weeks’ gestation onwards led to accurate prenatal diagnosis in all 16 cases. Dysmorphism and skull deformity preceded closure of the sutures by 4 to 16 weeks. In Group 2, prenatal diagnosis was correct in 23/24 cases. There were no false-negative results in either group. CONCLUSIONS: This series questions further the uncertain genetic determinism of craniosynostosis and seems to rule out the hypothesis of a deformation sequence following primary closure of the cranial sutures. It also suggests that ultrasound examination is useful to demonstrate closure of the sutures in the third trimester of pregnancy in most affected cases.
Warren SM, Brunet LJ, Harland RM, et al. The BMP antagonist
noggin regulates cranial suture fusion. Nature 2003;422:625-9.
During skull development, the cranial connective tissue framework undergoes intramembranous ossification to form skull bones (calvaria). As the calvarial bones advance to envelop the brain, fibrous sutures form between the calvarial plates. Expansion of the brain is coupled with calvarial growth through a series of tissue interactions within the cranial suture complex. Craniosynostosis, or premature cranial suture fusion, results in an abnormal skull shape, blindness and mental retardation. Recent studies have demonstrated that gain-of-function mutations in fibroblast growth factor receptors (fgfr) are associated with syndromic forms of craniosynostosis. Noggin, an antagonist of bone morphogenetic proteins (BMPs), is required for embryonic neural tube, somites and skeleton patterning. Here we show that noggin is expressed postnatally in the suture mesenchyme of patent, but not fusing, cranial sutures, and that noggin expression is suppressed by FGF2 and syndromic fgfr signaling. Since noggin misexpression prevents cranial suture fusion in vitro and in vivo, we suggest that syndromic fgfr-mediated craniosynostoses may be the result of inappropriate downregulation of noggin expression.
Langford RJ, Sgouros S, Natarajan K, et al. Maxillary volume
growth in craniosynostosis. Plast Reconstr Surg 2003;111:1598-604.
Craniosynostosis, and in particular, craniofacial dysostosis, exhibits abnormalities of the nasomaxillary complex in form, position, and development. The aim of this study was to quantitatively assess the volumetric maxillary abnormality in patients at the time of initial diagnosis of craniosynostosis and to make comparisons with a “normal” reference range for maxillary volumes throughout childhood. The technique of segmentation was applied to preoperative computed tomographic head scans obtained in 31 children (14 boys, 17 girls), between 1 and 34 months of age (mean, 11.06 months), who underwent cranial expansion surgery for craniosynostosis affecting the coronal suture complex. Maxillary volumes were plotted against age for the first 3 years of life and were compared with a healthy population. There was no statistical difference between the two sexes for mean maxillary volume. The mean maxillary volumes for the entire group were statistically smaller than the norm (p = 0.046, linear regression with age as a covariable), but there was no statistical difference among the four different groups of coronal synostosis (unilateral coronal, nonsyndromic bilateral coronal, nonsyndromic complex pansynostosis, syndromic bilateral coronal synostosis) (p = 0.407, one-way analysis of variance). On graphic data analysis, the maxillary volume was smaller than the norm in craniosynostotic children who presented in the first few months of life. However, by 7 months of age in nonsyndromic bilateral coronal synostosis and by 17 months of age in syndromic bilateral coronal synostosis, the maxillary volumes had increased toward the norm. This implies that the effect of the craniosynostotic process on the midface structures is present from birth and parallels the effect on the cranial vault sutures.
Cedzich C, Farmand M. [Diagnosis and therapy of syndromic
and non-syndromic craniosynostosis]. [Article in German] HNO 2003;51:198-208.
Premature craniosynostosis is caused by a premature closure of single or multiple sutures of the cranial vault. It may result not only in aesthetic but also in functional disorders with an occasional ICP increase leading to a dramatic loss of vision. In the 1970s, Paul Tessier published his craniofacial principles for the primary treatment of craniosynostosis. His approach has gained wide acceptance over the previously described craniectomies and bone flaps, especially because of the significant benefits with an acceptably low level of morbidity. The following paper reviews the different kinds of craniosynostoses, their specific clinical manifestations, the necessary diagnostic examinations and the specific surgical procedures and operative results.