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PubMed2002

Craniosynostosis.

Craniosynostosis, caused by premature fusion of the sutures, may be syndromic or non-syndromic. Radiology has an important role to play in the assessment, management and follow-up of these patients. Initial investigations may often be undertaken within general radiology departments. An understanding of the terminology and recognition of the predictable patterns of presentation are essential to enable appropriate referral to a craniofacial unit where further investigation and management are undertaken. We present the radiological features of several craniosynostoses with an emphasis on the role of plain radiography. We demonstrate the complementary role of computed tomography in their evaluation within the setting of a specialist centre.

Craniosynostoses↗

PubMed2002

Are routine preoperative CT scans necessary in the management of single suture craniosynostosis?

CT scanning is accepted as a regular component of the investigation of patients with simple craniosynostosis. In a series of 109 cases with simple craniosynostoses treated at Great Ormond Street Hospital for Children, a correct diagnosis on the basis of clinical findings was made in 100% of cases by an experienced clinician. CT scans with 3D reconstructions provided diagnostic confirmation in 100% of the patients when performed, but 91% of patients had already had sufficient confirmation of diagnosis by radiography. The clinical use of the scans for purposes other than diagnosis was examined. CT scanning in simple craniosynostosis in this series did not provide any additional clinical benefit as a screening method for the detection of intracranial abnormalities or for surgical planning. We propose that it may be appropriate to limit CT scanning, both axial images and three dimensional reconstructions, to selected cases where diagnostic uncertainty exists or where, it is used in surgical planning.

Child, Preschool↗

PubMed1995

Crouzon's disease correlates with low fibroblastic growth factor receptor activity in stenosed cranial sutures.

Reports have demonstrated that Crouzon's disease is associated with a gene on chromosome 10 coding for the fibroblastic growth factor (FGF) receptor 2. The purpose of this investigation was to evaluate the FGF receptor 2 levels in cranial sutures of children with Crouzon's disease and nonsyndromic, isolated craniosynostosis. Twelve children between the ages of 6 and 24 months were studied. Four patients had Crouzon's disease with coronal suture stenosis. The 8 remaining had a nonsyndromic, isolated coronal stenosis. Stenosed and adjacent nonstenosed cranial sutures were removed at cranioplasty and promptly fixed, decalcified, and embedded in paraffin. Immunohistochemical analysis of cranial sutures was performed with labeled, specific anti-FGF receptor 2 antibodies. In children with Crouzon's disease, we found significantly lower levels of FGF receptor 2 staining in stenosed sutures compared with nonstenosed sutures. In addition, sutures from children with Crouzon's disease demonstrated lower levels of FGF receptor 2 activity in both stenosed and nonstenosed sutures compared with children with a nonsyndromic, isolated coronal stenosis. However, there were no significant differences in FGF receptor 2 staining between stenosed and nonstenosed sutures in children with a nonsyndromic, isolated coronal stenosis. These findings suggest that low FGF receptor 2 activity in cranial sutures correlates with Crouzon's disease. This work supports genetic studies and yet shows that patients with Crouzon's disease have low FGF receptor 2 activity in cranial sutures. The findings also suggest that there may be etiological differences between syndrome- and nonsyndrome-associated craniosynostoses in children.

Child, Preschool↗

PubMed1996

The effects of fronto-parieto-squamosal suture fusion on cranial growth: an experimental study.

Craniosynostoses have been known for at least 20 centuries, but their etiopathogeneses are still unclear. There are three main theories to explain the etiology of craniosynostosis, Moss's theory being the most popular. According to Moss, the development of the neurocranial form is viewed as an integration of the growth of the skull base, the calvarial bones, the meninges, and the enclosed brain. Experimental studies, however, are generally focused on cranial vault suture synostosis. This study aims to demonstrate the effects of cranial base synostosis by performing fronto-parieto-squamosal suture fusion. This fusion affected the whole cranial configuration. These effects were more prominent closer to the cranial vault, increasing at the anterior facial height and the lower facial length, reflected by ventral dislocation of the total face, and increasing of the kyphosis at the cranial base. It has also been demonstrated that synostosis of a junction point near the cranial base affects the vault and the base simultaneously. Any approach that tries to treat the cause, and not the symptom, of synostosis must, then, be based on an understanding of how cranial growth occurs and of how sutural growth processes are related to the totality of cranial growth.

Animals↗

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↗

PubMed1999

Increased intracranial pressure after coronal suturectomy in craniosynostotic rabbits.

It has been suggested that the complications associated with intracranial hypertension in craniosynostotic infants may be managed with surgical release of the synostosed sutures. However, both postoperative increases and decreases in intracranial pressure (ICP) have been reported in heterogeneous samples of infants with syndromic and nonsyndromic craniosynostoses. The present study was designed to describe longitudinal changes in ICP in a homogeneous sample of rabbits with uncorrected and corrected familial coronal suture synostosis and compare them with age-matched normal control rabbits. Fifty-three rabbits were divided into three groups: normal rabbits (n = 28), rabbits with uncorrected bilateral coronal suture synostosis (n = 9), and rabbits with bilateral coronal suture synostosis with coronal suturectomy at 25 days of age (n = 16). ICP was measured at 25 and 42 days of age using a Codman epidural microtransducer. Results revealed that rabbits with uncorrected craniosynostosis had significantly (P < 0.05) higher ICP at 25 days of age than normal control rabbits by approximately 86%. However, by 42 days of age, ICP in normal rabbits increased by 75%, whereas ICP in rabbits with uncorrected craniosynostosis decreased by 69% over the same time. Synostotic rabbits with coronal suturectomy showed a 50% decrease in ICP immediately after surgical release and then followed the normal, age-related ICP pattern, which significantly increased by 75% at 42 days of age. Results suggest that, in the rabbit model, the postsuturectomy rise in ICP may simply be normal, age-related changes, although a longer follow-up will be needed to determine the recurrence of pathological ICP. Possible multifactorial explanations for intracranial decompression and compensation in the craniosynostotic rabbit model are also discussed.

Analysis of Variance↗

PubMed2002

Long-term neuropsychological effects of sagittal craniosynostosis on child development.

The link between cranial deformity and "functional" disability is not obvious in single-suture sagittal craniosynostosis. Physicians have anecdotally reported that children with simple craniosynostosis often seem to have a higher proportion of learning disabilities and cognitive problems than their nonafflicted peers. These problems have not been systematically studied, however. This study examined the long-term neuropsychological effects of single-suture sagittal craniosynostosis on selected aspects of neurological development. It did so by going beyond global measures of mental function (intelligence quotient) in an attempt to assess the incidence of subtle neuropsychological sequelae. Retrospective inspection of the Yale Department of Neurosurgery records between 1980 and 1990 was used to identify study subjects born with nonsyndromic sagittal suture craniosynostosis who were between 6 and 16 years of age at the time of the study. Of the 16 study subjects born with sagittal synostosis, which is thought to be among the most benign of the single-suture craniosynostoses, this study found that 50% had a reading and/or spelling learning disability. Although children with single-suture sagittal craniosynostosis fall within the normal range for intelligence, there is a significantly higher incidence of learning disabilities in this group than in the general population.

Adolescent↗

PubMed2002

LeFort III internal distraction in syndromic craniosynostosis.

Distraction osteogenesis of the mid-face alleviates the requirements of substantial autogenous bone grafts and donor site morbidity and alleviates the restriction of the soft-tissue envelope in gaining advancement of the mid-face. A prospective study, over a 14-month period, was initiated to evaluate the results of seven consecutive patients undergoing mid-facial advancement who were treated with Le Fort III internal distraction using the MID device. All patients had syndromic craniosynostoses and six patients had previously undergone fronto-orbital advancement. Four patients had symptoms of airway obstruction and one patient was tracheostomy dependent. Six of the patients completed the distraction as planned. Lateral cephalograms were analyzed and the mean linear distraction was 18 mm with a range of 8 mm to 23 mm. Complications included infection (one patient), mechanical failure (one patient), intraoperative fragment dysjunction (three patients), velopharyngeal insufficiency (one patient), conjunctivitis (two patients), trismus (six patients), and bony irregularities. It was concluded that in our Unit's future protocol for managing infant syndromic synostoses, synostectomies and cranial vault remodeling will be undertaken in infants as before, but that in early childhood, patients with severe mid-facial hypoplasia and/or respiratory compromise will be offered distraction osteogenesis as a substitute for the traditional Le Fort III advancement and bone grafting.

Adolescent↗

PubMed2004

Aberrant bony vasculature associated with activating fibroblast growth factor receptor mutations accompanying Crouzon syndrome.

Fibroblast growth factor receptor mutations are associated with and, in fact, cause most syndromes presenting with craniosynostosis. This knowledge has resulted in a shift in the paradigm of suture fusion causation; it was thought previously that abnormal tensional forces arising in the cranial base caused fusion of the vault sutures, but it is now understood that aberrant intercellular signaling in the developing skull leads to abnormal suture morphogenesis. Although the mutations associated with these syndromes are known and the phenotypic consequences are well documented, the pathway from mutation to phenotype has yet to be elucidated. Surgical reconstruction is the primary treatment of craniofacial abnormalities associated with craniosynostotic syndromes such as Crouzon syndrome. In many cases, calvarial vault reshaping is dependent on the quality of the autologous bone available; however, the bone of patients with craniosynostosis syndrome is often more brittle, thinner, and less robust than cranial bone from nonaffected donors. The relation between syndromic craniosynostoses and this bone has not been previously described. In this study, the osteon and blood vessel diameters of calvarial bone from patients with Crouzon syndrome and age- and sex-matched normal calvarial bone are measured. Statistical analysis demonstrates a quantitative and significant difference in the blood vessel diameter but not in the osteon diameter. This finding could be a result of abnormal blood vessel development caused by the fibroblast growth factor receptor mutation occurring before and coincident with bone formation and leading to weakened and fragile bone tissue.

Blood Vessels↗

PubMed2004

Early failure of absorbable plating in a patient with syndromic brachycephaly.

The use of bioabsorbable plating systems for rigid fixation after cranial remodeling surgery has become the standard of care in the treatment of syndromic and nonsyndromic craniosynostoses at pediatric craniofacial centers in North America. The advantages of these absorbable plating systems over metallic plates and screws have been well documented. The absorbable plates have been used with remarkable safety and efficacy for more than 15 years. An unusual case of repeated early failure of an absorbable plating system in a patient with syndromic brachycephaly complicated by the development of hydrocephalus is reported. The reoperative rates for cranial remodeling surgery at our institution and the possible causes for this failure are discussed.

Absorbable Implants↗

PubMed1990

Delayed and progressive multiple suture craniosynostosis.

A considerable amount of information is available on various types of craniosynostoses. The patient exhibiting single suture synostosis that progresses to involve multiple sutures is distinctly uncommon, as is the patient exhibiting delayed synostosis involving all of the calvarial sutures. We report a group of 11 such patients with progressive and delayed holocalvarial synostosis. Most patients exhibited features of raised intracranial pressure or developmental delay, and in all patients symptoms were relieved after surgery. The diagnostic and therapeutic implications of this type of presentation in craniosynostosis are discussed.

Child↗

PubMed1993

Cranioscoliosis.

We have identified a particular facial asymmetry with unique characteristics that we call cranioscoliosis. Cranioscoliosis is a condition in which there is an apparent curvature of the midline of the cranial skeleton, cranial base, and facial skeleton when viewed in the axial plane. Cranioscoliosis is a diagnosis of exclusion. It is differentiated from the craniosynostoses by an absence of fused calvarial vault sutures. We recently developed a new technique, called cranial expansion, that involves interdigitating cuts in the calvaria which are subsequently expanded. We retrospectively reviewed the records of 13 patients identified as having this condition, of whom 7 were surgically treated. Our results seem to indicate that cranioscoliosis involves an inherent growth disturbance that does not appear to be corrected through any early surgical release.

Bone Transplantation↗

PubMed1995

Twenty-year experience with early surgery for craniosynostosis: I. Isolated craniofacial synostosis--results and unsolved problems.

Early surgery for isolated craniosynostosis is designed to improve morphology, to prevent functional disturbances, and equally important, to enhance the psychosocial development of the child. As the first of a two-part series, 104 patients with isolated craniofacial synostosis were retrospectively analyzed. Diagnoses included bilateral coronal (10), unilateral coronal (57), metopic (29), and sagittal synostosis (8). All patients underwent primary fronto-orbital advancement-calvarial vault remodeling procedures at less than 18 months of age (mean 8.1 months). Thirteen percent of patients (14) required a secondary cranial vault operation (mean age 22.6 months) to address residual deficits in craniofacial form. Perioperative complications were minimal (5.0 percent), and there was no mortality. Average length of postoperative follow-up was 46.0 months. By the classification of Whitaker et al., which assesses surgical results, 87.5 percent of patients were considered to have at least satisfactory craniofacial form (category I-II) at latest evaluation. Overall rates of hydrocephalus, shunt placement, and seizures (3.8, 1.0, and 2.9 percent, respectively) were low. Among the isolated craniosynostoses, unilateral coronal synostosis/plagiocephaly poses the most complex problems, including vertical orbital dystopia, nasal tip deviation, and residual craniofacial asymmetry; there is also a wide spectrum of findings and growth patterns in this subgroup.

Craniofacial Dysostosis↗

PubMed1999

Molecular diagnosis of bilateral coronal synostosis.

The authors performed a prospective study evaluating molecular diagnosis in patients with bilateral coronal synostosis. The patients were divided into two groups: (1) those clinically classified as having Apert, Crouzon, or Pfeiffer syndrome and (2) those clinically unclassified and labeled as having brachycephaly. Blood samples were drawn for genomic DNA analysis from 57 patients from 1995 to 1997. Polymerase chain reactions were performed using primers flanking exons in FGFR 1, 2, and 3. Each exon was screened for mutations using single-strand confirmation polymorphism, and mutations were identified by DNA sequencing. Mutations in FGFR2 or FGFR3 were found in all patients (n = 38) assigned a phenotypic (eponymous) diagnosis. All Apert syndrome patients (n = 13) carried one of the two known point mutations in exon 7 of FGFR2 (Ser252Trp and Pro253Arg). Twenty-five patients were diagnosed as having either Crouzon or Pfeiffer syndrome. Five patients with Crouzon syndrome of variable severity had mutations in exon 7 of FGFR2. Fifteen patients (12 with Crouzon, 3 with Pfeiffer) had a mutation in exon 9 of FGFR2, many of which involved loss or gain of a cysteine residue. A wide phenotypic range was observed in patients with identical mutations, including those involving cysteine. Two patients labeled as having Crouzon syndrome had the Pro250Arg mutation in exon 7 of FGFR3. All three patients with the crouzonoid phenotype and acanthosis nigricans had the same mutation in exon 10 of FGFR3 (Ala391Glu). This is a distinct disorder, characterized by jugular foraminal stenosis, Chiari I anomaly, and intracranial venous hypertension. Mutations were found in 14 of 19 clinically unclassifiable patients. Three mutations were in exon 9, and one was in the donor splice site of intron 9 on FGFR2. The most common mutation discovered in this group was Pro250Arg in exon 7 of FGFR3. These patients (n = 10) had either bilateral or unilateral coronal synostosis, minimal midfacial hypoplasia with class I or class II occlusion, and minor brachysyndactyly. No mutations in FGFR 1, 2, or 3 were detected in five patients with nonspecific brachycephaly. In conclusion, a molecular diagnosis was possible in all patients (n = 38) given a phenotypic (eponymous) diagnosis. Different phenotypes observed with identical mutations probably resulted from modulation by their genetic background. A molecular diagnosis was made in 74 percent of the 19 unclassified patients in this series; all mutations were in FGFR2 or FGFR3. Our data and those of other investigators suggest that we should begin integrating molecular diagnosis with phenotypic diagnosis of craniosynostoses in studies of natural history and dysmorphology and in analyses of surgical results.

Child↗

PubMed2001

Clinical characteristics of patients with unicoronal synostosis and mutations of fibroblast growth factor receptor 3: a preliminary report.

Clinical teaching dictates that isolated unicoronal synostosis is sporadic in occurrence and is possibly related to intrauterine constraint. Despite this, isolated reports document a familial occurrence. It has previously been recognized that there may be a familial pattern of inheritance. Recently, mutations in fibroblast growth factor receptors (FGFRs) have been implicated in several syndromic craniosynostoses. At the authors' institution, mutations in FGFR3, located at chromosome 4p16, have been found to cause coronal synostosis. Two cases of unicoronal synostosis were found to have the same Pro250Arg missense mutation in FGFR3. This finding suggested that all patients with a diagnosis of unicoronal synostosis be screened for the FGFR3 mutation. Between January and December of 1996, patients with a diagnosis of plagiocephaly at the Children's Hospital of Philadelphia were evaluated for the FGFR3 mutation. Thirty-seven patients with unicoronal synostosis had mutational studies. Two additional patients were known to have the FGFR3 mutation at the onset of the study. Of the 37 patients screened, four were found to have the FGFR3 mutation, for a total of six patients with both unicoronal synostosis and the FGFR3 mutation. All patients with unicoronal synostosis were evaluated for facial dysmorphology and operative outcome. The six patients with the FGFR3 mutation had more severe cranial dysmorphology and were more likely to need surgical revision than those without the FGFR3 mutation. The occurrence of the FGFR3 mutation among patients with unicoronal synostosis provides evidence for a genetic basis of certain forms of plagiocephaly. The clinical, radiologic, and molecular findings will be an important addition to the surgical management and counseling of patients with unicoronal synostosis.

Adolescent↗

PubMed2006

Intellectual outcomes in children and adolescents with syndromic and nonsyndromic craniosynostosis.

BACKGROUND: Craniosynostosis, the premature fusion of the skull bones, is a congenital deformity that has functional and morphologic implications. Cranial vault reconstructive surgery is required to improve skull shape and increase intracranial volume. Craniosynostosis disorders carry a risk of brain insult and associated neurologic and cognitive dysfunction. This study investigated the long-term effects of craniosynostosis on intelligence in children and adolescents with syndromic and nonsyndromic disorders who had undergone cranial expansion surgery during infancy. METHODS: Global intellectual evaluations were obtained on 31 children aged 7 to 16 years with mixed syndromic (n = 13) and nonsyndromic (n = 18) craniosynostoses. Results of intellectual assessment were compared with norm-referenced data. Age at surgery and gender comparisons were also made. RESULTS: Mean +/- SD general intelligence quotient of the total sample was within the average range (intelligence quotient, 95.6 +/- 21.2). Intellectual functioning was significantly lower in children with syndromic craniosynostosis (mean intelligence quotient, 83.1 +/- 21.9) than nonsyndromic craniosynostosis (mean intelligence quotient, 104.7 +/- 15.8). The majority of children with syndromic craniosynostosis (77 percent) were of normal intelligence. Children with nonsyndromic craniosynostosis did not display obvious evidence of intellectual dysfunction. There were no age or gender differences in intellectual outcomes in this sample. CONCLUSIONS: Findings are contrary to the historical impression that has regarded syndromic craniosynostosis as synonymous with intellectual disability. Children with nonsyndromic craniosynostosis are of normal intelligence during their school-age years.

Adolescent↗

PubMed2005

Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region.

Craniosynostosis is a congenital developmental disorder involving premature fusion of cranial sutures, which results in an abnormal shape of the skull. Significant progress in understanding the molecular basis of this phenotype has been made for a small number of syndromic craniosynostosis forms. Nevertheless, in the majority of the approximately 100 craniosynostosis syndromes and in non-syndromic craniosynostosis the underlying gene defects and pathomechanisms are unknown. Here we report on a male infant presenting at birth with brachycephaly, proptosis, midfacial hypoplasia, and low set ears. Three dimensional cranial computer tomography showed fusion of the lambdoid sutures and distal part of the sagittal suture with a gaping anterior fontanelle. Mutations in the genes for FGFR2 and FGFR3 were excluded. Standard chromosome analysis revealed a de novo balanced translocation t(9;11)(q33;p15). The breakpoint on chromosome 11p15 disrupts the SOX6 gene, known to be involved in skeletal growth and differentiation processes. SOX6 mutation screening of another 104 craniosynostosis patients revealed one missense mutation leading to the exchange of a highly conserved amino acid (p.D68N) in a single patient and his reportedly healthy mother. The breakpoint on chromosome 9 is located in a region without any known or predicted genes but, interestingly, disrupts patches of evolutionarily highly conserved non-genic sequences and may thus led to dysregulation of flanking genes on chromosome 9 or 11 involved in skull vault development. The present case is one of the very rare reports of an apparently balanced translocation in a patient with syndromic craniosynostosis, and reveals novel candidate genes for craniosynostoses and cranial suture formation.

Amino Acid Sequence↗

PubMed1994

Midline defects of the orofaciodigital syndrome type VI (Váradi syndrome).

The orofaciodigital syndromes (OFDS) represent a spectrum of anomalies of the palate, cranium, hands, and feet. Váradi syndrome, designated OFDS type VI, is a rare disorder that is additionally characterized by cerebellar anomalies. The following report is of a patient with OFDS VI and characteristic multiple midline defects: median cleft lip and palate, lingual cleft with nodules, and midline brain malformation. In addition, this case is uniquely associated with the presence of midline (metopic and sagittal) craniosynostoses as well. It is unusual that deformities which result from premature fusion of cranial vault sutures would appear synchronously in a syndrome based on the concept of failure of fusion or coalescence of facial growth centers. The midline represents an independent developmental field, whereby CNS defects and midline anomalies can present concurrently.

Cerebellum↗