Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “SYNOSTOSIS”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 721 records · Page 40Linked to original sources

[Radio-ulnar bridge callus following osteosynthesis of forearm fractures].

137 patients with forearm fractures and internal plate fixation were investigated for postoperative radio-ulnar synostosis. 10 patients (7.3%) developed such a complication, 7 after complete, 3 after either ulnar or radial lesion. Of 73 patients with complete forearm fractures, 50 had separate incisions, and developed radio-ulnar synostosis only secondary to severe soft tissue injury. Of 12 other patients, by contrast, who were operated on for radial and ulnar plate fixation via one common incision (Boyd's approach), synostosis occurred in 5. After isolated ulnar fractures in 32 cases, synostosis was seen in two cases - in one after severe soft tissue injury, in the other after a modified Boyd's approach. Only one patient with isolated and open fracture of the radius presented later with radio-ulnar synostosis.

Adolescent↗

Diagnostic practice and the estimated prevalence of craniosynostosis in Colorado.

BACKGROUND: In the late 1980s, evidence of an epidemic of craniosynostosis in Colorado included reports of clusters from selected high-altitude communities and an investigation showing the high and rapidly rising rates of surgically corrected synostosis. Some evidence suggested that local diagnostic practice could account for the epidemic. OBJECTIVE: To determine the contributions of any excess rates of disease occurrence, surgery-based ascertainment, and diagnosis to the reported epidemic. DESIGN: Population-based birth prevalence study with diagnostic evaluation. SETTING: The Colorado Department of Health, April 15, 1986, to July 14, 1989. PATIENTS OR OTHER PARTICIPANTS: Children in the Craniosynostosis Registry or state birth record files. MAIN OUTCOME MEASURES: Birth prevalence was estimated from registry and birth record data; case classification by suture type and malformation patterns were determined by review of radiographs and medical records. RESULTS: The period birth prevalence of radiographically confirmed nonsyndromic synostosis was 14.1 per 10,000 live births. Of a total of 605 children, 307 (51%) had definite radiographic evidence of synostosis, for which the intrarater reliability was good (except for the coronal suture on plain films) and the interrater reliability was fair or good (except for the metopic suture on plain films). Between the first and third years, case reports fell from 347 to 103. CONCLUSIONS: Diagnostic criteria strongly influenced the rate of synostosis. The rate of radiographically confirmed synostosis was within the range of published estimates. Low diagnostic thresholds, which changed over time, created the semblance of a severe statewide epidemic and may have obscured excess rates of disease at high altitude.

Colorado↗

Age-related changes in lateral ventricle morphology in craniosynostotic rabbits using magnetic resonance imaging.

BACKGROUND AND AIMS: Craniosynostosis occurs in 300-500 per 1,000,000 live births and results in secondary craniofacial, ocular, and intracranial anomalies. Neurologic problems associated with craniosynostosis include changes in intracranial morphology such as dilation of the cerebral ventricles, however, clinical studies are confounded by small sample sizes, heterogenous samples, and lack of age-matched controls. The present study was designed to assess age-related changes in the lateral ventricle volume of the brain in normal rabbits and rabbits with naturally-occurring coronal suture synostosis using serial magnetic resonance imaging. METHODS: Eighteen rabbits (6 wild-type controls, 6 with early-onset [ approximately 21 days gestation], and 6 with delayed-onset [approximately 25 days post-gestation] coronal suture synostosis) had magnetic resonance imaging (MRI) at 10, 25, and 42 days of age. RESULTS: The results demonstrate that rabbits with early-onset synostosis had significantly (p<0.001) dilated and larger lateral ventricles (by 77% at 10 days of age) than wild-type and delayed-onset synostosis rabbits, which progressively worsened by day 42. CONCLUSION: This finding suggests that uncorrected coronal suture synostosis may have early effects on lateral ventricle volume hypertrophy, possibly through obstructed cerebrospinal fluid and/or venous drainage and circulation.

Age Factors↗

Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis.

Boundaries between cellular compartments often serve as signaling interfaces during embryogenesis. The coronal suture is a major growth center of the skull vault and develops at a boundary between cells derived from neural crest and mesodermal origin, forming the frontal and parietal bones, respectively. Premature fusion of these bones, termed coronal synostosis, is a common human developmental anomaly. Known causes of coronal synostosis include haploinsufficiency of TWIST1 and a gain of function mutation in MSX2. In Twist1(+/-) mice with coronal synostosis, we found that the frontal-parietal boundary is defective. Specifically, neural crest cells invade the undifferentiated mesoderm of the Twist1(+/-) mutant coronal suture. This boundary defect is accompanied by an expansion in Msx2 expression and reduction in ephrin-A4 distribution. Reduced dosage of Msx2 in the Twist1 mutant background restores the expression of ephrin-A4, rescues the suture boundary and inhibits craniosynostosis. Underlining the importance of ephrin-A4, we identified heterozygous mutations in the human orthologue, EFNA4, in three of 81 patients with non-syndromic coronal synostosis. This provides genetic evidence that Twist1, Msx2 and Efna4 function together in boundary formation and the pathogenesis of coronal synostosis.

Animals↗

Retrospective study of nonsyndromic craniosynostosis treated over a 10-year period.

Since the first operation for premature suture closure in North America in 1888, there have been some fundamental changes in the treatment of these sutures, the latest being the U.S. Food and Drug Administration's 1996 approval of a bioabsorbable fixation device. This retrospective study documents our experience with procedures performed primarily by Bennie J. van R. Zeeman for isolated craniosynostosis over a 10-year period. It was an attempt to evaluate factors affecting outcome and to determine the safety of the techniques used to correct these congenital defects. Diagnoses included plagiocephaly (116) and sagittal (44), metopic (17), and bilateral coronal (12) synostosis. All patients underwent fronto-orbital advancement or calvarial vault remodeling, or both. The average patient age at time of sagittal synostosis surgery was 13.4 months; unilateral coronal synostosis, 12.2 months; deformational plagiocephaly, 9.8 months; metopic synostosis, 8.6 months; and bilateral coronal synostosis, 10.4 months. Perioperative complications were minimal, with one mortality. Postoperative complications included three cases involving infection. The problem of reoperation for the removal of wires and plates remains the greatest postoperative complication. Because of poor patient compliance, no accurate postoperative follow-up has been recorded. On the basis of our experience, we wish to point out some problems inherent in this surgery and also the complications that can occur despite careful coordinated planning and team effort.

Bone Plates↗

Outcome analysis for correction of single suture craniosynostosis using resorbable fixation.

A retrospective review was performed on 63 patients at Childrens Healthcare of Atlanta at Scottish Rite who underwent correction of single-suture craniosynostosis using a resorbable fixation system. Included in the series were 24 patients with metopic synostosis, 15 with sagittal synostosis, and 24 with unicoronal synostosis. The average age at operation was 22.7 months (range: 2.8 months-18 years), and mean follow-up time was 30.7 months (range: 7.1-10 years). Reoperation equal to or exceeding the magnitude of the original procedure occurred in 4.76% of the patients. This was comparable to the reoperation rate observed at our institution using traditional fixation systems. Minor complications related to the use of resorbable plates were also identified, and the final outcome for single-suture synostosis was favorable. Results suggest that resorbable plates and screws are as effective as titanium-based systems in the treatment of single-suture synostosis.

Absorbable Implants↗

Analysis of posterior plagiocephaly: deformational versus synostotic.

Appropriate management of posterior plagiocephaly requires differentiation of occipitoparietal flattening caused by lambdoid synostosis from that caused by deformational forces. In a 2 1/2-year prospective study of 115 infants presenting with unilateral posterior cranial flattening, only one child had synostotic posterior plagiocephaly (lambdoid synostosis), whereas 114 infants had deformational posterior plagiocephaly. Deformational occipitoparietal flattening was more common on the right (61 percent) than on the left (30 percent), and minor contralateral frontal flattening was not unusual (52 percent). The ipsilateral ear was anteriorly displaced in virtually all infants (97 percent). Some infants had ipsilateral torticollis (19 percent); a few had contralateral torticollis (8 percent). Gender ratio was 3:1, male:female. A total of 114 infants with deformational posterior plagiocephaly were treated conservatively either by head positioning in the crib (n = 63) or with a molding helmet (n = 51). Outcome was assessed by pretreatment and posttreatment anthropometry on 53 of these infants, who were either positioned (n = 17) or helmeted (n = 36). Improvement occurred in 52 of 53 patients (mean follow-up 4.6 months), i.e., the difference in length between the long and short transcranial axis diminished in 52 infants (mean 1.2 to 0.7 cm), did not progress in any child, and was unchanged in one infant. At an average age of 10 months, posterior cranial symmetry was better in infants treated with a helmet (mean difference 0.6 cm) than in those managed by positioning (mean difference 1.0 cm) (p < 0.001). Age at initiation of helmet therapy (from 2 to 9 months) was unrelated to rate of improvement. In a 10-year retrospective study, the authors identified 12 infants who had an operation for posterior plagiocephaly. All but one had confirmed premature lambdoid fusion; thus, this condition accounted for 3.4 percent of all primary operations performed for craniosynostosis during this decade (n = 323). In retrospect, the physical findings of synostotic posterior plagiocephaly were not clearly different from those of deformational posterior plagiocephaly. Plain radiography was sometimes used to confirm the clinical diagnosis. Neither sutural narrowing, deep interdigitations, nor perisutural sclerosis indicated lambdoid synostosis. Computed tomography (CT) was necessary if the physical findings were suspicious for lambdoid synostosis or if plain films did not give a definitive diagnosis. Axial CT scans (n = 7) showed a symmetric forehead in all but one patient with lambdoid synostosis. CT studies also demonstrated that auricular position was indeterminate in synostotic posterior plagiocephaly, being anterior, posterior, or symmetric, whereas the ipsilateral ear was virtually always anterior in deformational posterior plagiocephaly.

Craniosynostoses↗

Brain growth rates in craniosynostotic rabbits.

OBJECTIVE: It has been suggested that abnormal brain morphology or growth rates may be a primary causal factor of craniosynostosis due, in part, to a lack of normal growth stretch and tension at the sutural margins. The purpose of the present study was to quantify cerebral hemisphere morphology and growth in a rabbit model of nonsyndromic coronal suture synostosis to determine whether cerebral dysmorphology is primary or secondary to synostosis in this model. DESIGN: Fifty-seven brains (114 hemispheres) were examined from 40 normal control rabbits and 17 rabbits with bilateral coronal suture synostosis ranging in age from 25 to 450 days postconception (synostosis occurs at approximately 23 days postconception in this model). The calvariae were removed, the brains were fixed in 10% paraformaldehyde, and in situ bilateral measurements of cerebral hemisphere length and cerebral hemisphere width were obtained using a Wild microscope with a camera lucida attachment and digital caliper. Regression analysis was used to compare cerebral cortex growth rates by age between the two groups. RESULTS: Cerebral hemisphere width and cerebral index regression line slopes had similar y intercepts (23 day postconception) with significantly (p < .05) diverging slopes over time. Normal rabbits increased more rapidly than synostosed rabbits. No significant (p > .05) differences were noted in regression line slopes between groups for cerebral hemisphere length by age or length by width. CONCLUSIONS: Cerebral dysmorphologies are probably a compensatory, secondary (postsynostotic) event and not a primary causal factor of craniosynostosis in this rabbit model of human familial, nonsyndromic coronal suture synostosis.

Aging↗

Congenital craniofacial asymmetry: early treatment.

Congenital craniofacial asymmetry has two dominant causes: isolated synostosis and craniofacial clefts. Treatment considerations in these problems differ from those with isolated cranial or isolated facial defects. Isolated cranial defects are most frequently treated by the neurosurgeon with craniectomy alone. Isolated facial asymmetry when congenital in origin usually manifests as hemifacial microsomia and based on our experience with 40 such patients, is best treated in later childhood. Treatment timing of craniofacial asymmetry varies with the cause, but is best done in the first two years of life. Nasofrontal encephaloceles are usually best treated in the first few weeks of life; synostosis syndromes are treated at six months of age after the facial sutures have had time to stabilize sufficiently for adequate dissection and mobilization; and other craniofacial clefts at approximately two years of age following descent of the teeth and better homeostatic capability of the patient. Based on our series of 58 patients, 40 treated with isolated synostosis at less than one year of age, eight at more than one year of age, and ten patients with craniofacial clefts, the guidelines for timing and methods of treatment have evolved. Liberal use of craniectomy bone with expected regrowth is possible in the first year of life, and more limited use in the second year of life. This bone is used to hold the repositioned orbit, augment hypoplastic zygomas, and reconstruct noses, or for other uses. In isolated synostosis, repositioning provides a form of immediate catch-up growth then proceeds normally. In craniofacial clefts, repositioning puts structures into normal relations and growth likewise proceeds normally. The isolated synostosis syndromes treated at a later age are done with more difficulty, though may be effectively cared for. Complications other than incomplete structural correction have been nonexistent in the group two years of age and less.

Abnormalities, Multiple↗

Forearm fractures in the head-injured adult.

Forty-seven of 661 head-injured adults sustained 50 forearm fractures. Eight extremities exhibited elbow flexion contractures greater than 55 degrees. Traumatic heterotopic ossification at the elbow developed in ten (20%) extremities: four with Monteggia fractures, two with olecranon fractures, and four with no known trauma. Only two of 18 (11%) extremities treated by plaster immobilization achieved good or excellent results, while 17 of 32 (53%) extremities treated by open reduction and internal fixation achieved good or excellent results. Union of fractures of one or both bones occurred at the same rate as for the normal population. There were no nonunions or deep infections, and there was only one delayed union. Calcification occurred in the interosseous membrane in 12 extremities (24%). In nine forearms (18%) a complete synostosis developed. One isolated radial fracture treated by open reduction and internal fixation and one isolated ulnar fracture treated by plaster incurred a synostosis. Seven of 21 (33%) fractures of both bones developed synostosis. Five of 16 (31%) fractures of both bones treated by open reduction and internal fixation developed a synostosis. These observations corroborate reports demonstrating that head injury predisposes to heterotopic ossification in forearm fractures.

Adolescent↗

Genetic study of scaphocephaly.

From a series of 1,408 patients with craniosynostosis hospitalized between 1976 and 1994, 561 probands with non-syndromal isolated sagittal synostosis were analyzed. The prevalence of sagittal synostosis was estimated in the order of 1 in 5,000 children. Family information was obtained from 373 probands distributed among 366 families. The male:female ratio was 3.5:1. There was no maternal or paternal age effect. In 22 of the 366 pedigrees, a high degree of familial aggregation was observed, giving a 6% figure of familial cases. Segregation analysis of 253 families indicates that sagittal synostosis is transmitted as a dominant disorder with 38% penetrance and 72% of sporadic cases. The frequency of twinning was 4.8% with only 1 concordance for sagittal synostosis in a monozygotic twin pair. The possibility of a mechanical pathogenesis in sporadic cases is discussed.

Adolescent↗

Sutural effects of fronto-occipital cranial modification.

Maya adult crania from the site of Lamanai, Belize provide a retrospective means of examining growth processes in the cranial vault. The Lamanai population practiced fronto-occipital deformation which is found to be significantly associated with premature sagittal synostosis and wormian bones of the lambdoidal suture. The undeformed members of the population also exhibit an abnormally high frequency of sagittal synostosis, but a significantly lower frequency than the deformed sample. It is suggested that the deforming apparatus creates tensile forces on the sagittal suture during the peak period of growth of the parietals, and that these forces might induce an adaptive response important in producing premature sagittal synostosis. The undeformed sample may have an increased congenital risk of sagittal synostosis created by their natural brachycephalic morphology in utero. The frequency patterning of wormian bones suggests a mixture of genetic and environmental causes in which tensile forces may also play a role.

Adult↗

Clinical and genetic aspects of trigonocephaly: a study of 25 cases.

We reviewed 25 patients ascertained through the finding of trigonocephaly/metopic synostosis as a prominent manifestation. In 16 patients, trigonocephaly/metopic synostosis was the only significant finding (64%); 2 patients had metopic/sagittal synostosis (8%) and in 7 patients the trigonocephaly was part of a syndrome (28%). Among the nonsyndromic cases, 12 were males and 6 were females and the sex ratio was 2 M:1 F. Only one patient with isolated trigonocephaly had an affected parent (5.6%). All nonsyndromic patients had normal psychomotor development. In 2 patients with isolated metopic/sagittal synostosis, FGFR2 and FGFR3 mutations were studied and none were detected. Among the syndromic cases, two had Jacobsen syndrome associated with deletion of chromosome 11q 23 (28.5%). Of the remaining five syndromic cases, different conditions were found including Say-Meyer syndrome, multiple congenital anomalies and bilateral retinoblastoma with no detectable deletion in chromosome 13q14.2 by G-banding chromosomal analysis and FISH, I-cell disease, a new acrocraniofacial dysostosis syndrome, and Opitz C trigonocephaly syndrome. The last two patients were studied for cryptic chromosomal rearrangements, with SKY and subtelomeric FISH probes. Also FGFR2 and FGFR3 mutations were studied in two syndromic cases, but none were found. This study demonstrates that the majority of cases with nonsyndromic trigonocephaly are sporadic and benign, apart from the associated cosmetic implications. Syndromic trigonocephaly cases are causally heterogeneous and associated with chromosomal as well as single gene disorders. An investigation to delineate the underlying cause of trigonocephaly is indicated because of its important implications on medical management for the patient and the reproductive plans for the family.

Abnormalities, Multiple↗

Prenatal exposure to fluconazole: an identifiable dysmorphic phenotype.

BACKGROUND: Fluconazole is a triazole antifungal used to treat mycotic infections. Fluconazole is reported to act as a teratogen when used continuously at a dosage of 400-800 mg daily. Fluconazole embryopathy was previously reported in 4 cases. The common features that were also seen in the current case include multiple synostosis (including craniosynostosis and digital synostosis), congenital heart defects, skeletal anomalies, and recognizable dysmorphic facial features. CASE: We report the case of a 9-month-old male born to a 30-year-old woman following a 37-week pregnancy. The pregnancy was complicated by maternal human immunodeficiency virus (HIV) infection and multiple drug exposures, including fluconazole (400 mg/day) until the fifth month and then from 6 months to term, efavirenz, nevirapine, methadone, dapsone, pentamidine, and trimethoprim-sulfamethoxazole. At birth the infant had seizures related to neonatal abstinence syndrome and was noted to have multiple congenital anomalies. On examination at age 9 months, he had craniosynostosis secondary to coronal and lambdoidal suture closures, shallow orbital region, hypoplastic supraorbital ridges, hypertelorism, and mild ptosis. He had radioulnar synostosis and metacarpophalangeal-proximal interphalangeal symphalangism of D2-D5 bilaterally. CONCLUSIONS: The findings of cranial synostosis, multiple symphalangism, and long-bone abnormalities in our case are typical of other reported cases of fluconazole embryopathy. Our patient showed no evidence of embryopathy due to efavirenz, and he did not have the features of Antley-Bixler or other craniosynostosis syndromes. We review the literature regarding the teratogenic effects of prenatal exposure to fluconazole and provide additional evidence that prenatal fluconazole exposure has a clearly identifiable phenotype.

Abnormalities, Drug-Induced↗

Craniosynostosis as a risk factor.

Craniosynostosis is a little known organic factor in sociopathy. This factor should be among those taken into consideration in selecting patients to undergo craniotomy. Among 22,000 skulls of neuropsychiatric patients, there were 100 with premature coronal synostosis, compared with 57 with dolichocephaly. Thirty-seven of the 100 patients with coronal synostosis exhibited disorders of social adaptation; frontal cortex functions are assumed to be involved. There were 34 cases of mental deficiency, 21 cases of psychosis, 13 of cerebral vascular disease, 10 cases of epilepsy, 4 of acrocephalosyndactyly, 3 of decompensation by slight craniocerebral trauma, and 1 case of ependymoma of the IV ventricle. Dolichocephalic patients exhibited a stronger tendency towards depressive states and cerebral vascular disease. The risks of cosmetic impairment and resulting psychosocial problems are discussed; especially in girls with oxy- and scaphocephaly craniofacial correction, is indicated, as it is also in patients with Saethre-Chotzen syndrome. In cases of premature synostosis of the coronal suture or synostosis of several sutures for carrying out a craniotomy, it is advisable to employ a combination of orbito-frontosphenoidal osteotomy for extension of the anterior cranial fossa. Craniosynostosis is a risk factor which, depending on the individual case and the sex and age of the patient, can impair central nervous functions, social adaption, and the blood supply of the brain.

Adolescent↗

Increased risk of craniosynostosis with higher antenatal maternal altitude.

BACKGROUND: During the 1980s, the Colorado Department of Health received reports from several high-altitude communities of clusters of the malformation craniosynostosis. In a population-based, case-control study, we examined the association between overall and trimester-specific maternal antenatal altitude exposure and the occurrence of infant craniosynostosis. METHODS: We identified case children through a statewide registry and randomly sampled control children from birth records. By telephone interview, each mother provided data on the locations of all antenatal residences and places of employment as well as other factors. Staff mapped all locations and abstracted the corresponding altitudes. RESULTS: The odds ratio (OR) of any synostosis for a time-weighted mean antenatal altitude of > or = 2000 metres (high altitude) versus < 2000 metres (low altitude) was 1.4 (lower bound of the one-sided 95% test-based confidence interval (CI): 0.9). The OR was elevated in smokers but not in non-smokers. As compared to non-smokers, the OR of any synostosis for high-altitude smokers was 4.6 (lower bound of the 95% one-sided exact CI: 1.7). Particularly elevated were the corresponding OR of coronal (18.1, 4.4) and metopic synostosis (16.3, 2.8), and OR for high-altitude exposure during the second trimester (any synostosis: 6.4, 1.99; coronal: 28.6, 6.1; metopic: 26.7, 4.1). CONCLUSIONS: Antenatal maternal high-altitude exposure and smoking are associated with increased risk of infant craniosynostosis, perhaps through generation of intermittent hypoxaemia.

Altitude↗

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↗

Endoscopic craniectomy for early correction of craniosynostosis.

Twelve patients between 0.4 and 7.8 months of age were treated by an endoscopic approach to strip craniectomy. Nine patients had sagittal suture involvement. Two patients had a single unilateral lambdoid suture synostosis, and one patient had a combination of a right coronal synostosis and a metopic synostosis. Postoperatively, all patients were placed in cranial remodeling helmets and the results showed that the estimated blood loss ranged from 5 cc to 150 cc, with blood transfusion required in only one patient. All patients were discharged from the hospital by day 2, and all patients had an improvement in their cranial head shape. The specific technique of using the endoscope to aid in performing a strip craniectomy will be discussed. Nine endoscopically treated patients with the diagnosis of sagittal suture synostosis were compared with nine patients treated by using the Marchac remodeling techniques. The mean operative time (1.6 hours versus 3.5 hours), estimated blood loss (43 cc versus 168 cc), hospital costs ($11,671 versus $36,685), and length of stay (1.16 days versus 5.1 days) were less by using the endoscopic technique. All nine patients treated by using the Marchac technique required a blood transfusion, whereas only one patient was transfused in the endoscopically treated group.

Brain↗