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PubMed2004

Facial scoliosis due to sternocleidomastoid torticollis: a cephalometric analysis.

Facial scoliosis can be caused by either the plagiocephaly which arises from unilateral coronal suture synostosis, or by the effects of sternocleidomastoid torticollis. Despite publications which have presented the key clinical and radiographic craniofacial differentiating features, confusion between the two still persists. This report presents the essential cephalometric features found in sternocleidomastoid torticollis, which may be applied to confirm the diagnosis in those cases which present late, and which do not exhibit the characteristic features of synostosis.

Adolescent↗

PubMed2004

Frontonasal process-specific disruption of AP-2alpha results in postnatal midfacial hypoplasia, vascular anomalies, and nasal cavity defects.

A majority of the bones of the vertebrate cranial vault and craniofacial complex develop via intramembranous ossification, and are separated by fibrous sutures that undergo osteogenic differentiation in response to growth stimuli. Craniosynostosis is a common human birth defect that results from the premature bony fusion within skull sutures, and causes a myriad of complications including mental retardation and craniofacial anomalies. Synostosis of facial sutures has been reported to cause midfacial hypoplasia in some craniosynostosis cases, but most studies focus on cranial vault sutures. In this study, we have generated a mouse model of frontonasal suture synostosis and midfacial hypoplasia through the tissue-specific elimination of the AP-2alpha transcription factor. We report here the generation AP-2CRE, a frontonasal process (FNP)- and limb-specific CRE recombinase allele that is directed by human AP-2alpha promoter and enhancer elements. We used the AP-2CRE line in combination with the conditional AP-2alpha line to produce a new frontonasal knockout (FKO) mutant that lacks AP-2alpha in the FNP and limbs. FKO mice exhibit shortened snouts and wide-set eyes that become apparent at postnatal day 15. The most prominent defects in FKO snouts are (1) a lack of growth within the frontonasal sutures, and (2) a reduction in the snout vasculature. Additional defects are observed in the FKO nasal bones and sutures, the nasal cavity cartilage and bony projections, and the olfactory epithelium. The characteristics of the FKO mouse model are a unique combination of midfacial growth anomalies, and provide the first evidence that AP-2alpha is essential for appropriate postnatal craniofacial morphogenesis.

Animals↗

PubMed1996

Craniosynostosis in neural tube defects: a theory on its pathogenesis.

BACKGROUND: In most cases, craniosynostosis is a sporadic occurrence of unknown etiology. Efforts to ascertain the exact, cause of this deformation often fall to reveal its origin and pathogenetic mechanism. Some previous reports have described isolated instances of the association of neural tube defects (NTD) and craniosynostosis, but in none of them has a causal relationship been established to explain this coincidence, apart from a fortuitous sequence of congenital defects. METHODS: We have reviewed the clinical records of 40 patients diagnosed with craniosynostosis who were studied at our hospital over a 22-year period, for the purpose of determining the possible etiologies of this cranial deformation. RESULTS: We found that three children with unilateral coronal synostosis had associated NTD-an incidence of 7.5%. Two children had cephaloceles and the third harbored a lumbosacral myelomeningocele. In these three cases, the craniosynostosis was noted immediately after birth and before the development or treatment of hydrocephalus. CONCLUSION: We think that there must be an alternative explanation for the association of craniosynostosis and NTD other than overdrained hydrocephalus or chance association. We advance the hypothesis that in these cases the cause of the premature coronal synostosis was the lack of cerebral expansion. Since brain expansion and intracranial pulse pressure determine the growth and shape of the overlying cranial vault, the dampening effect of the malformation sac (myelomeningocele or cephalocele) on the intracranial pressure and on the pulse pressure may lead to close contact of the affected bones and to the premature closure of the coronal suture. The possibility of fetal head constraint because of diminished fetal activity due to the NTD as a contributory factor is also suggested.

Craniosynostoses↗

PubMed1999

Posterior plagiocephaly: proactive conservative management.

The pathology, diagnosis and management of posterior plagiocephaly remains highly controversial. While the rationale for surgical management of true lambdoid synostosis is undisputed, opinions vary greatly on how to manage severe, unresolving, non-synostotic cases. We reviewed 39 cases of posterior plagiocephaly, 37 of which were treated conservatively. Of these, 34 patients had a significant improvement over the following year with sleep posture modification and/or physiotherapy. While only eight cases returned to complete normality, the remainder had deformities that were deemed mild by both mothers and surgeons, and did not merit surgery. Defining recalcitrant cases remains elusive as standard imaging is often unhelpful. While 3-D CT offers a much more accurate diagnosis of true lambdoid synostosis with bony union and allows objective assessment of the deformity, serial scans involve radiation doses that are difficult to justify. Clinical follow-up is the only reliable method at present.

Craniofacial Abnormalities↗

PubMed2001

Surgical correction of scaphocephaly: experiences with a new procedure and follow-up investigations.

Introduction: Simple resection of the sagittal suture and the use of alloplastic material or extensive skull resections have long been proven to be unsatisfactory in the treatment of sagittal synostosis. In contrast to these experiences, the immediate correction of skull shape seems to yield the best results without significant morbidity. Patients: Thirty-six scaphocephalic infants with an average age of 6.5 (3.5-14) months underwent operation by our craniofacial team since 1994. Methods: Wide resection of the sagittal suture was used in combination with a bone-strip resection along the coronal and lambdoid sutures. Occasionally partial resection and reshaping of the frontal or occipital bone was necessary to correct an extremely bulging skull. The cranial growth and shape was monitored by anthropometric skull measurements in the last 20 patients. Results: Except in two cases, in which the dura mater was minimally injured intraoperatively, no complications occurred in any patient. Craniofacial oedema always occurred but disappeared after 72 h. The immediate correction of the skull shape was successful in all cases and was completed within 6 months postoperatively. There was no iatrogenic bone defect one year after surgery. Postoperative skull shape and growth was normal. Conclusion: These procedures seem to be effective in the treatment of scaphocephalus. Further normalization of skull shape is achieved by unrestricted postoperative brain growth. Copyright 2001 European Association for Cranio-Maxillofacial Surgery.

Journal Article↗

PubMed2001

Computer-aided 3-D simulation and prediction of craniofacial surgery: a new approach.

Background: In plastic and reconstructive craniofacial surgery, careful preoperative planning is essential. In complex cases of craniofacial synostosis, rapid prototyping models are used to simulate the surgery and reduce operating time. Recently, 3-D CT model surgery has been introduced for presurgical planning and prediction of the postoperative result. Objective: For simulation of craniofacial surgery a computer-based system was developed that allows visualization and manipulation of CT-data using computer graphics techniques. Surgical procedures in all areas of the bony skull can be performed interactively. Results: The case of a child with scaphocephalus is presented. Surgery is planned using the craniofacial surgery simulator described above. Conclusion: The computer-based interactive surgery simulation systems presented here allow precise visualization of craniofacial surgery. The accurate computer-aided 3-D simulation of bone displacements is also the prerequisite for transfer of the simulated surgery using a navigation system for surgery. Thus the preoperatively planned procedure could be transferred directly to the operating table. Copyright 2001 European Association for Cranio-Maxillofacial Surgery.

Journal Article↗

PubMedDate not supplied

[The treatment of congenital foot abnormalities].

With the exception of club foot, flat foot and claw foot, this paper gives a review of principal foot malformations at birth, proceeding from the available radiographical and clinical findings, and also from the facts found during surgery. In addition, there is suggested a classification of various deformities, and there are defined major guidelines and instructions for treatment. As far as the rather frequent polydactylies are concerned, the author distinguishes between a distal phalanx type, an interphalanx type, a proximal phalanx type, a metatarsal type and a tarsal type, depending on the "level", each, where distal/proximal web separation between the fingers stops. It is possible to include also rather particular forms, such as the rudimentary type and the so-called multiplications in this classification. The major indications for the surgical treatment of polydactylies are problems in finding adequate shoes, and also the aesthetic appearance. The principal concern of surgical treatment is to remove additional toes. When there is in parallel a syndactyly or a congenital hallux varus, this may require great skill in the applied surgical technique. Various approaches of surgical treatment are demonstrated by a few examples. Feet oligodactylies are primarily encountered with fibula dysplasia or aplasia, or in cleft feet. In very severe cases it is possible to find just one toe. The actual deformities alone rarely require surgical treatment, but they often "hint at" further malformations in the reach of the root of the foot (synostosis) and of the lower limb. Cleft feet are also frequently impaired in form and function, with these deformities including less severe hypoplasia of a middle toe, e. g. with a somewhat deeper web separation, toe aplasia, metatarsus hypoplasia and aplasia, synostosis, and transversal bones, and even monodactylies with only ray V existing. Additional toes in the cleft foot is one of the rare exceptions. However, the combination of cleft feet and cleft hands is rather frequently encountered. Many cleft feet are nevertheless highly efficient, even without any surgical treatment. That is why there are only indications for a surgical treatment when there are severe foot deformities or most inconvenient misalignments of peripheral toes. Some of the "lobster like" feet are so wide that it is just not possible to wear normal shoes. In this case it is recommended to have surgical correction and to close the cleft. Feet of congenital giant growth are extremely rare, but they raise most complex problems as to adequate treatment. In many cases, an amputation of the additional parts cannot be avoided.(ABSTRACT TRUNCATED AT 400 WORDS)

Child↗

PubMed2000

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) causes non-syndromic craniosynostosis.

UNLABELLED: A unique Pro250Arg mutation in fibroblast growth factor receptor 3 (FGFR3) was recently found in patients with non-syndromic craniosynostosis. We studied 18 Taiwan Chinese patients with various types of craniosynostosis to evaluate if this mutation is also prevalent in the Chinese population. Genomic DNA was analysed by polymerase chain reaction based restriction analysis and direct sequencing to identify the Pro250Arg mutation in FGFR3. Five (28%) of 18 probands were heterozygous for the Pro250Arg mutation. Only those patients with coronal synostosis carried this mutation. CONCLUSION: Our findings suggest that all patients with coronal synostosis should be examined for this unique mutation.

China↗

PubMed2004

Single-suture craniosynostosis: a review of neurobehavioral research and theory.

OBJECTIVE: To review research and theory regarding the neurobehavioral correlates and outcomes of single-suture, or isolated, craniosynostosis in children. METHODS: A critical review of 17 studies of the hypothesized association between isolated craniosynostosis and neurodevelopment. RESULTS: Isolated craniosynostosis is associated with a three- to fivefold increase in risk for cognitive deficits or learning/language disabilities. The causal basis for this association is unclear. No particular calvarial suture (sagittal, metopic, left or right unilateral coronal) has been associated with higher risk of problems. There is little evidence from quasi-experimental studies that cranioplastic surgery prevents or reduces risk of neurobehavioral impairment. CONCLUSIONS: Future studies would benefit from larger samples and larger control groups; measures of specific neuropsychological functions (in addition to global cognition); analyses of neuropsychological status in relation to the severity and cortical impact of synostosis; and an examination of interactions between synostosis and social/family risk factors on neurodevelopment. Routine neurodevelopmental screening of young children with isolated craniosynostosis is recommended.

Brain↗

PubMed1991

Frontal bone advancement and compensatory craniofacial growth changes in rabbits with experimental coronal suture immobilization.

Recent clinical advances in the surgical correction of coronal suture synostosis involve the overcorrection of a frontal bone segment to allow for unrestricted expansion of the developing neurocapsular matrix. However, the effects of such large-scale calvarial repositioning on subsequent brain mass growth trajectories and compensatory cranio-facial growth changes is unclear. This study was designed to investigate this relationship in an experimental rabbit model of bilateral coronal suture synostosis. Amalgam markers were placed across the frontonasal, coronal, and anterior lambdoid sutures in thirty-one 1.5-week-old rabbits. Twenty-one animals underwent bilateral coronal suture immobilization using methyl-methacrylate. Ten animals were left untreated and served as sham controls. At 6 weeks of age, the coronal suture was released by frontal bone craniotomy or frontal bone craniotomy with a 6-mm frontal bone advancement. Lateral head radiographs were taken at 1.5, 6, 7, 9, 12, and 18 weeks of age. Results revealed that by 6 weeks of age, animals with coronal suture immobilization exhibited growth disturbances across the various sutures resulting in altered craniofacial and cranial vault shape compared to control animals. Following coronal suture release, animals that underwent craniotomy showed rapid restenosis, which resulted in significantly altered cranial vault shape and cranial orthocephalization by 18 weeks of age. Animals that underwent frontal bone advancement exhibited normal overall craniofacial growth by 18 weeks of age compared with control animals but did exhibit regional compensatory growth disturbances at the frontonasal and anterior lambdoid sutures, possibly related to neural tissue distension.(ABSTRACT TRUNCATED AT 250 WORDS)

Analysis of Variance↗

PubMed1994

Surgical correction of severe scaphocephalic deformities.

Sagittal synostosis may result in severe skull deformities. Characteristic components of the deformity include extreme elongation, frontal and occipital bossing, temporal pinching, and angulatory apical skull deformation. Conventional strip craniectomy often fails to correct these complex problems completely in severe early or late cases of sagittal synostosis. Techniques for total calvarial vault reconstruction have previously been reported, but a single large series has not been presented. Eighteen consecutive patients ranging in age from 3 months to 5 years (mean = 12 months) with severe early and late scaphocephalic skull deformities underwent total calvarial vault reshaping. All children required transfusions ranging from 250 to 1,100 mL. Operative times averaged 6 hours, and hospital stay ranged from 4 to 7 days. There was no perioperative mortality. Two patients experienced transient syndrome of inappropriate secretion of antidiuretic hormone, which responded to fluid restriction. One patient was noted to have a 2-cm parietal craniectomy defect 9 months after operation. Microscrews, which were used in all 18 patients, had to be removed in 2 patients when they became palpable. Excellent aesthetic results were noted in all 18 patients up to 36 months of follow-up.

Child, Preschool↗

PubMed1995

The infant skull in Pfeiffer's syndrome.

A review of Pfeiffer's syndrome patients presenting in infancy identifies characteristic patterns of onset and progression of premature sutural fusion. Classic Pfeiffer's syndrome manifests symmetrical bicoronal synostosis; all other sutures are normal. The remaining patients, with a more extreme phenotypic expression, have superimposed on bicoronal synostosis progressive involvement of other cranial sutures, frequent hydrocephalus and craniolacunae, suggesting craniostenosis and intracranial hypertension. Although similar in clinical features and outcome, these patients have been subgrouped according to the presence or absence of a cloverleaf skull anomaly.

Acrocephalosyndactylia↗

PubMed1996

Abnormalities of the cranial base in synostotic frontal plagiocephaly.

Skeletal abnormalities of the cranial base in various craniosynostoses are well known. Cranial base angulation has been documented in synostotic frontal plagiocephaly--"unilateral coronal synostoses." We analyzed four infants with synostotic frontal plagiocephaly, focusing on computed tomographic images through the cranial base. The scans were performed on a GE advantage spiral with 1.5-mm images. The anatomical structures examined were length of the foramina ovale, length of the eustachian tubes, and sphenotemporal angles. Ratios for these measures were calculated comparing the normal and synostotic sides. The foramen ovale was 21% longer on the synostotic side; the eustachian canal was 11% shorter on the synostotic side. The average sphenotemporal angle on the synotic side was 121 degrees compared with 149 degrees on the nonsynostotic side. Deformities of the cranial base (i.e., elongation of structures anterior to the synostosis and shortening of the structures posterior to the synostosis) can be documented before surgical correction of synostotic frontal plagiocephaly. Follow-up computed tomographic studies will permit study of the effect of fronto-orbital advancement and modeling on these basilar abnormalities.

Cephalometry↗

PubMed1998

The elbow in syndromic craniosynostosis.

Craniosynostosis may occur in conjunction with limb and visceral anomalies in more than 100 syndromes and may include anomalies of the elbow. Apert's, Pfeiffer's, Crouzon's, and Saethre-Chotzen syndrome have been linked with anomalies of the elbow, but the incidence and severity of such anomalies is unknown. A prospective radiographic study was undertaken to establish the types, incidence, and severity of elbow anomalies in patients with either Apert's, Pfeiffer's, Crouzon's, or Saethre-Chotzen syndrome attending the Craniofacial Centre at Great Ormond Street Hospital during a 12-month period. This study showed that elbow anomalies were very common in Apert's and Pfeiffer's syndrome, but less so in Crouzon's syndrome. The elbows in all patients with Saethre-Chotzen syndrome were normal. A range of anomalies was seen, with overlap between the syndromes. The severest anomaly seen in children with Crouzon's, Pfeiffer's, and Apert's syndrome was complete synostosis, which may require surgical intervention in due course. The results of this study suggest that the incidence of elbow anomalies in Apert's, Pfeiffer's, and Crouzon's syndrome is higher than the current literature suggests. Synostosis can be so severe that orthopedic review as part of the management of these children may be beneficial and may become increasingly important as more of these children survive into adulthood.

Acrocephalosyndactylia↗

PubMed2004

Spring-mediated cranial reshaping for craniosynostosis.

The evolution of modern craniofacial surgery has come full circle from the early strip craniectomies to the complete calvarial remodeling and now back to attempts at minimally invasive surgical interventions. The goal of the craniofacial surgeon has always been the correction of form and function with minimization of associated morbidity and mortality. Particularly problematic has been the ability to maintain the anatomical correction beyond the result seen on the operating room table secondary to changes with growth. The ability to improve the clinical result in a growing and developing child has been the impetus for dynamic treatment modalities. Dr Claes Lauritzen's pioneering work in this area has been particularly successful using internal springs to correct craniofacial deformities. The purpose of this study is to assess this treatment modality clinically in terms of safety and efficacy and to develop a methodology for the spring formation that would be easily reproducible. This is an institutional review board-approved prospective study of 15 children (11 male, 4 female) with non-syndromic sagittal suture synostosis. All patients were treated with a sagittal strip craniectomy and placement of 2 omega-shaped stainless steel springs at a mean age of 3.9 months. Patients were followed clinically and with cephalograms; after reossification of the intervening bone, the springs were removed at a mean age of 8.2 months. The mean force applied at initial placement of the springs was 6.9 N, and the mean spring deflection at formation was 6.87 cm. All patients completed the study protocol without any significant morbidity or any mortality. Perioperative variables, including blood loss, transfusion rate, operative time, intensive care unit stay, hospital stay, and hospital charges, were all significantly less (P < 0.05) in this study group compared with children with the same diagnosis treated with cranial vault reshaping during the same period. Furthermore, the preoperative mean cephalic index of 64.3 corrected to 77.6 after surgery and was maintained over time. Spring-mediated cranial reshaping is efficacious and safe for the treatment of sagittal synostosis. Long-term study of cranial development and clinical morphology are ongoing to validate further the effectiveness of this treatment modality.

Cephalometry↗

PubMed2006

Application of the spanning plate concept to frontal orbital advancement: techniques and clinical experience in 60 patients.

Frontal orbital advancement (FOA), is the procedure of choice in treatment of coronal and metopic synostosis. Resorbable plates and screws have been widely accepted for use in pediatric craniofacial surgery, including FOA. We have applied the concept of extended resorbable spanning plates to FOA for metopic, unilateral, and bilateral coronal synostosis in infants and children during a 5-year period. We report on 60 patients, ages 4 to 15 months (mean, 7 months); 28 girls, 32 boys. Follow-up ranged from 12 to 36 months (mean, 24 months). There were no structural failures, no infections, and no complications related to the use of extended spanning plates. Extended spanning plates decrease mobility between bone segments, confer greater stability to the construct, and reduce both the number of plates and of screws that are necessary and reduce the operative time. Application of these plates simplifies FOA surgery and represents a step in the evolution of plating technology.

Absorbable Implants↗

PubMed1998

Occipital remodeling and suboccipital decompression in severe craniosynostosis associated with tonsillar herniation.

OBJECTIVE: The goal was to describe a surgical technique allowing occipital vault remodeling and suboccipital decompression in patients affected by multiple-suture synostosis presenting severe occipital flattening and chronic tonsillar herniation (CTH). METHODS: Four patients (two with Crouzon's syndrome, one with Kleeblattschädel, and one with complex craniosynostosis) presenting multiple-suture synostosis with severe occipital flattening, posterior fingerprint impressions, and CTH were operated on in the prone position. For three patients, occipital vault remodeling and suboccipital decompression without dural opening were performed; for one patient affected by Kleeblattschädel, an upper cervical laminectomy and dural opening were performed. All patients were studied with magnetic resonance imaging pre- and postoperatively. RESULTS: No complications were observed. In all cases, postoperative magnetic resonance imaging revealed good decompression of the craniocervical junction, with resolution of brain stem displacement. In one case, CTH recurred 15 months after surgery, although in a less severe form. CONCLUSION: In selected cases of complex or syndromic craniosynostosis with predominant posterior deformity and CTH, this technique was safe and useful in the management of cranial reconstruction, allowing posterior vault remodeling and prophylactic suboccipital decompression. After validation with a larger number of patients, it could prove to be a useful option in all cases of complex craniosynostosis with CTH in which a staged repair of the craniosynostosis is to be considered.

Cerebellar Diseases↗

PubMed1999

Outcome data and analysis in pediatric neurosurgery.

OBJECTIVE: The purpose of this study was to analyze the outcomes of five commonly performed pediatric neurosurgical operations: 1) initial shunt insertion; 2) first shunt revision; 3) craniotomy for brain tumor; 4) correction of sagittal synostosis; and 5) release of tethered cords. A second purpose was to analyze the neurological outcome data after tethered cord releases. METHODS: Morbidity and mortality records, patient charts, and operative records were reviewed to determine length of hospitalization and, for each disorder, the pertinent outcomes such as duration of shunt function and incidence of infection or neurological morbidity. RESULTS: Many outcome data were expected, such as a high long-term shunt function rate after primary shunt insertion (65% at 5 yr), a low mortality rate (1%) and permanent morbidity rate (10%) after craniotomy for brain tumor, and a low frequency of transfusion (20%) for sagittal synostosis operations. The outcomes among the three neurosurgeons varied more than expected, e.g., the duration of hospitalization after sagittal reconstructions ranged from 3.1 to 5.8 days; the frequency of infections of primary shunt revisions ranged from 0 to 15%; and the neurological morbidity after tethered cord releases ranged from 0 to 12%, with all neurological morbidity occurring in patients undergoing their second or third tether release. CONCLUSION: The data may serve as a basis for outcome comparisons for these procedures. Outcome data allow us to analyze factors to improve patient care, but outcome analysis is complex.

Adolescent↗