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PubMed2004

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.

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 Calvarial Reconstruction to correct cosmetic and functional problems. 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.

Age Factors↗
PubMed2004

Minimizing blood transfusions in the surgical correction of coronal and metopic craniosynostosis.

OBJECTIVE: The current study was performed to determine the rate of allogeneic blood transfusion for coronal and metopic craniosynostosis surgery done by two experienced pediatric neurosurgeons and to identify factors associated with a need for transfusion. METHODS: First operations for coronal and metopic craniosynostosis correction in children from 1996 to 2002 were reviewed retrospectively. For analysis, the primary endpoint was defined as either the receipt of a blood transfusion or a postoperative Hb level below 70 g/l, even if no blood was transfused. Univariate and multivariate analyses were done to examine the relationship of attaining the primary endpoint to extent of surgery, surgeons, surgery time, preoperative hemoglobin, craniosynostosis type, weight, and age. RESULTS: Thirty-two patients were operated on: 17 with unicoronal; 9 with bicoronal, and 6 with metopic craniosynostosis. Median age at operation was 7.5 months. Blood transfusion rates were 0% for unicoronal, 44% for bicoronal, and 33% for metopic synostosis operations. Logistic regression revealed that the best predictor of having a postoperative hemoglobin level of <70 g/l or receiving a blood transfusion was the extent of surgery (beta=1.59, SE(beta)=0.57). The odds of reaching the primary endpoint for extensive surgery over basic surgery was 4.9 [95%CI=(1.6,15.0)]. Once extent of surgery was accounted for in the model, no other covariates significantly improved the model. CONCLUSIONS: Low transfusion rates were achieved in primary operations for coronal and metopic craniosynostosis using simple intraoperative techniques and by accepting a low postoperative hemoglobin level.

Analysis of Variance↗
PubMed2005

Fetal exposure to sodium valproate associated with Baller-Gerold syndrome: case report and review of the literature.

CASE REPORT: We report three patients with a history of maternal valproate use during pregnancy who presented with a combination of metopic suture synostosis and upper limb malformations, which could be diagnosed as Baller-Gerold syndrome (BGS). The patients underwent surgical treatment for the craniofacial deformity, during which standard frontocranial reconstruction was performed. REVIEW OF THE LITERATURE: Only 32 patients have been reported in the world literature and these cases support the emerging view that BGS is not a distinct syndrome, but should instead be considered to be an heterogeneous phenotype with variable etiology. CONCLUSIONS: Our case series suggests for the first time that fetal sodium valproate exposure may also cause this phenotype.

Craniosynostoses↗
PubMed1999

Venous intracranial haemodynamics in children undergoing operative treatment for the repair of craniosynostosis. A prospective study using transcranial colour-coded duplex sonography.

To evaluate intracranial venous haemodynamics in craniosynostosis noninvasively, we measured the blood flow velocities and pulsatility indices in the superior sagittal sinus (SSS) and the middle and the anterior cerebral artery during the perioperative course in 21 children undergoing repair of craniosynostosis involving the midline sutures, using transcranial colour-coded duplex sonography (TCCS). An age-matched group of 12 healthy children was examined in like manner for comparison. In the healthy group, the mean pulsatility index (PI) in the SSS was 0.22 and the mean resistance index (RI) 0.20. The mean preoperative PI and RI in the synostosis group were significantly higher [0.41 and 0.34, respectively (P<0.01)], but fell to 0.19 and 0.17 (P<0.01) in the postoperative course. Our results indicate that in craniosynostosis there is an altered venous haemodynamics in the SSS, which can be observed noninvasively by TCCS.

Blood Flow Velocity↗
PubMed1999

Congenital torticollis in association with craniosynostosis.

The incidence of congenital torticollis in association with plagiocephaly is 1 in 300 newborns, with the torticollis resulting from pathologically sustained contraction of the sternocleidomastoid. Such conditions as facial asymmetries, craniovertebral anomalies, cervical hemivertebra, and mono- or polydysostoses may also be associated with torticollis diagnosed during the neonatal period. With particular reference to synostotic (coronal and/or lambdoidal) plagiocephaly, a clear distinction is made in this paper between posterior neurocranial flattening secondary to the sustained rotation of the skull resulting from torticollis and that seen in synostotic plagiocephaly. The rarity of torticollis with sustained contraction of the sternocleidomastoid muscle relative to the frequency of occipital-parietal flattening in newborn kept in the supine position has not been discussed in the literature and is therefore of clinical importance. In light of the fact that the prognosis and, consequently, the treatment plan vary directly with the presence or absence of synostoses, clinical evaluation also includes cephalometrics, plain skull X-rays, and CT imaging. If the torticollis is associated with neurocranial deformity but synostosis is absent, cervical traction and physiotherapy resolve the symptoms. When, however, the clinical picture is complicated by synostotic plagiocephaly, corrective surgery is necessary, though cervical traction and physiotherapy are essential to provide early and complete cure of the torticollis.

Craniosynostoses↗
PubMed2004

Repair of distal biceps tendon rupture with the Biotenodesis screw.

BACKGROUND: Distal biceps tendon ruptures are uncommon injuries with only around 300 cases reported in the literature. Current management tends to favour anatomical reinsertion of the tendon into the radial tuberosity, especially in young and active individuals. These injuries are commonly repaired using either a single anterior incision with suture anchors or the Boyd-Anderson dual incision technique. CASE REPORT: We report the use of a bioabsorbable interference screw for the repair of distal biceps tendon rupture using a minimal incision technique. In this technique the avulsed tendon and a bioabsorbable screw are secured in a drill hole on the radial tuberosity using whip stitch and fibre wire sutures according to Biotenodesis system guidelines. CONCLUSION: The technique described requires minimal volar dissection that is associated with a reduced number of synostosis and posterior interosseous nerve injuries. The bioabsorbable interference screw has all the advantages of being biodegradable and has been shown to have greater pullout strength than suture anchors. It is also a reasonable alternative to titanium screws in terms of primary fixation strength. The strong fixation provided allows early active motion and return to previous activities as seen in our case.

Arm Injuries↗
PubMed2006

Interlocking nailing of forearm fractures.

INTRODUCTION: With the exception of forearm fractures, intramedullary techniques are preferred for osteosynthesis in the case of long-bone fractures. For the latter, however, the main problem remains insufficient stability against torsional forces resulting in high rates of non-union. This is why plate osteosynthesis by means of a DCP 3.5 or LC-DCP 3.5 is still being described as the standard procedure. MATERIALS AND METHODS: In a prospective study, 32 patients (33 forearms) with fractures of one or both forearm bones were treated by implantation of 40 intramedullary ForeSight nails (ulna: 23; radius: 17). Clinical and radiographic follow-up was performed at 6, 12, 26, and--if needed--52 weeks postoperatively. Time to follow-up was 31.4 months on average (range 24-44 months). RESULTS: The average time to fracture healing for 36 fractures of 29 patients was 4.4 months. A free range of motion was seen in 86%, and only four forearms had a loss of pronation and supination. DASH score averaged at 13.7. There were few complications: non-union 1, delayed union 2, radioulnar synostosis 2, and infections 0. No refracture was seen after 19 implant removals so far. Average time needed per operation was 67 min, average time for fluoroscopy was 4.4 min. CONCLUSION: This intramedullary nail can do justice to the specific anatomical needs in the case of the forearm. Static interlocking guarantees adequate stability in all fracture types. The surgical technique is demanding. Nonetheless, this system can yield results of comparable quality to those of plate osteosynthesis. So far, no refractures after removal of the implants and no complications connected with the actual implants have been observed.

Adolescent↗
PubMed1998

Morphology of the development of the sagittal suture of mice.

Syndesmotic sutures of the skull are formed by dense connective tissue and called "open"; they are "closed" by formation of a synostosis between adjacent bones. Open sutures are considered as areas of growth and as hinges. The importance of open sutures during the period of skull growth is reflected by pathological situations in which premature closure of the sutures occurs. As alterations of the FGF receptor have been reported in genetical disorders accompanied by premature suture closure (Bellus et al. 1996), the role of fibroblasts and connective tissue in the development of the sagittal suture of mice has been investigated by light and electron microscopy. Morphological changes of the sagittal suture at the following stages are reported: at embryonic day 18, days 1, 5, 9, 14, 20, 26, 28 after birth and in adult mice. Two skulls per stage were investigated. Early osteogenesis appeared in a thin plate, followed by a second plate underneath the first one. Both were separated by blood vessels. In general, vascularization preceded desmoid mineralization; the space around blood vessels was occupied by non-bone-forming cells leaving cavities for the presumptive bone marrow. Mineralization of the collagen-rich osteoid at the mineralizing rim of the bone plates was accompanied by apoptoses and cell disintegration. Newly formed bone was immediately covered by osteoblasts forming a sheet of bone-lining cells. At day 9, the double-layered bone plates of both sides reached the median area of the skull but were separated by non-mineralizing, collagen-rich connective tissue. From day 14 onwards, the bone plates thickened. Bone apposition, recognizable by the formation of collagen-rich osteoid and proceeding from day 14 pp onwards, occurred mainly at the outer and inner surfaces of the calvariae, but neither at bone marrow surfaces nor at the medial edges of the parietal bones. These opposite bone faces showed fewer osteoblasts and bone-lining cells, but an increased number of fibroblasts. Tendon-like collagen bundles connected both bone plates of the open suture of day 26 pp as well as in the adult mice, whereby synostotically closed areas alternated. Formation of an open, syndesmotic suture can, therefore, be described as a transition of bone-forming tissue into a bone-tendon junction. The results indicate the importance of the replacement of osteoblasts by fibroblasts at the sutural front of the bone plates in order to prevent a premature suture closure.

Animals↗
PubMed2000

Features of Antley-Bixler syndrome in an infant born to a mother with pregnancy luteoma.

UNLABELLED: We report a female newborn with characteristic signs of Antley-Bixler syndrome (ABS) such as midface hypoplasia, radiohumeral synostosis and multiple joint contractures. The newborn also presented ambiguous genitalia, stage Prader V, and congenital adrenal hyperplasia. The mother experienced midterm virilization due to a pregnancy luteoma. Her elevated androgen levels and virilization symptoms normalized post partum without treatment. The newborn had elevated serum testosterone and 17-OH-progesterone levels which remained elevated because of a 21-hydroxylase deficiency. The child's treatment in order of priority was: hydrocortisone substitution, craniofacial/skeletal anomaly management and surgical correction of the external genitalia. Mutations in the genes for fibroblast growth factor (FGF) 8 and receptors FGFR1, FGFR2, and FGFR3 were not detected. CONCLUSION: A newborn girl with manifestations of the Antley-Bixler syndrome showed severe virilization probably caused by the association of a mild 21-hydroxylase deficiency and maternal hyperandrogenism due to a pregnancy luteoma. Abnormalities of androgen metabolism may be responsible for virilization reported in other cases of the Antley-Bixler syndrome.

Adrenal Hyperplasia, Congenital↗
PubMed2004

Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.

Muenke syndrome, also known as FGFR3-associated coronal synostosis, is defined molecularly by the presence of a heterozygous nucleotide transversion, c.749C>G, encoding the amino acid substitution Pro250Arg, in the fibroblast growth factor receptor type 3 gene (FGFR3). This frequently occurs as a new mutation, manifesting one of the highest documented rates for any transversion in the human genome. To understand the biology of this mutation, we have investigated its parental origin, and the ages of the parents, in 19 families with de novo c.749C>G mutations. All ten informative cases originated from the paternal allele (95% confidence interval 74-100% paternal); the average paternal age at birth overall was 34.7 years. An exclusive paternal origin of mutations, and increased paternal age, were previously described for a different mutation (c.1138G>A) of the FGFR3 gene causing achondroplasia, as well as for mutations of the related FGFR2 gene causing Apert, Crouzon and Pfeiffer syndromes. We conclude that similar biological processes are likely to shape the occurrence of this c.749C>G mutation as for other mutations of FGFR3 as well as FGFR2.

Adult↗
PubMed2002

Congenital reducible atlantoaxial dislocation: classification and surgical considerations.

BACKGROUND: Reducible atlanto-axial dislocation (AAD) may cause severe motor and respiratory compromise due to recurrent spinal cord and/or brain stem impingement. To the best of the authors' knowledge, this is the first study concentrating on the classification, the protocol of the surgical management and the outcome of congenital, reducible AAD. METHODS: 109 patients with congenital, reducible AAD underwent posterior stabilization. Their preoperative disability was graded as: I (n=11, 10.09%) no functional disability (a history of minor trauma led to quadriparesis that subsequently improved); II (n=31, 28.44%) independent for activities of daily living with minor disability; III (n=42, 38.53%) partially dependent on others for their daily needs; and, IV (n=25, 22.93%) totally dependent. They were classified into 4 groups depending upon their association with: a normal odontoid and posterior arch of atlas (n=27); a dysplastic odontoid and normal posterior arch (n=25); an assimilated posterior arch (n=49); and, Arnold Chiari malformation type I (n=8). Nine patients with a dysplastic odontoid had a "hypermobile" AAD with an unrestricted backward and forward movement of the axis relative to the atlas in flexion as well as in extension of the neck, respectively. The surgical procedures included Brooks' (n=12) or modified Brooks' C1-2 fusion (n=39); Goel's C1-2 fusion (3); Ransford's contoured rod fusion (n=7); Jain's occipitocervical fusion (n=47); and, transoral decompression and Jain's occipitocervical fusion (n=1). There were 6 peri-operative mortalities in the series. FINDINGS: At follow-up (ranging from 3 months to 6 years; n=86), 64 patients had shown improvement by one grade or more; 8 patients, who had a history of transient quadriparesis but were without neurological deficits at presentation, remained in grade I; 11 had achieved stabilization of neurological functions; while 3 had deteriorated despite adequate radiological reduction of AAD and fusion of the construct. A follow-up of 6 months or more was available in 79 of these 86 patients, in whom a dynamic intrathecal CT scan showed a good osseous union. INTERPRETATION: The patients with congenital reducible AAD, depending on their surgical management, may be classified into four groups. Some patients with a dysplastic odontoid have a "hypermobile" AAD and require special care during intubation, positioning and stabilization. An assimilated posterior arch is often associated with asymmetrical lateral occipito-C1-C2 joint synostosis rendering transarticular screw placement difficult. The various causes of failure of constructs are discussed.

Adolescent↗
PubMed1998

The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32.

Mesomelic dysplasia Kantaputra type (MDK) (MIM *156232) is a new autosomal dominant skeletal dysplasia characterized by dwarfism, shortening of the forearms/lower-legs, carpal/tarsal synostosis, and dorsolateral foot deviation. We studied a Thai family in which 15 members in 3 generations were affected with MDK. With reference to the breakpoints of a balanced translocation [t(2;8)(q31;p21)] in patients from a previously reported Italian family with a skeletal dysplasia that appears similar to MDK, a linkage analysis was performed in the Thai family using 50 CA-repeat markers mapped to nearby regions (2q22-q34 and 8p24-p21) of the translocation breakpoints. The results clearly ruled out a linkage of MDK to marker loci at the 8p24-p21 region, whereas all nine affected members available for the study shared a haplotype at four loci (D2S2284, D2S326, D2S2188, and D2S2314) spanning about 22.7 cM in the 2q24-q32 region. The computer-assisted two-point linkage analysis revealed maximum logarithm of odds (lod) scores of 4.82, 4.21, 4.82, and 4.21 (theta = 0) at these loci, respectively. These data indicated that the MDK locus is in the vicinity of D2S2284 and D2S2188 loci that are most likely mapped to 2q24-q32.

Chromosome Mapping↗
PubMed2004

Ankle instability after vascularized fibular harvest for tumor reconstruction.

BACKGROUND: The vascularized fibular graft is an important tool in the reconstruction of defects caused by resections of orthopedic tumors. Children often undergo this form of reconstruction, but there is little information about the complications after vascularized fibular graft harvest in this age group. METHODS: We present a series of 32 patients who underwent this procedure to reconstruct an extremity in our institution. There were 12 children and 20 adults. RESULTS: The residual distal fibula was significantly longer in adults as compared with children (P < .048). Among children, 3 of 11 undergoing the procedure developed ankle instability, in distinction to adults, none of whom developed this complication (P < .041). This reflects a disruption of normal ankle function that develops in skeletally immature patients with a short residual fibula but not in patients with a longer residual fibula (P < .008). When the sum of patient age in years and residual fibula length in centimeters was less than 16, 3 of 6 patients developed deformity, in contrast to no deformity developing in the remaining 23 when the sum was >16 (P < .004). Adults were more likely to develop pain than instability. CONCLUSIONS: Our series suggests that children with an age-length sum <16 should be considered for prophylactic tibiofibular synostosis creation.

Adolescent↗
PubMed1986

A psychiatric profile before and after reconstructive surgery in children with Apert's syndrome.

Twenty-five children with Apert's syndrome, characterised by craniosynostosis and symmetrical syndactyly of hands and feet, were seen by a psychosocial team. The patients ranged in age from 1 month to 15 years. All had undergone synostosis release in the first year of life and were being assessed for craniofacial reconstructive surgery. Psychosocial adjustment was evaluated using a semistructured interview, psychometric testing. Piers-Harris Self-concept Inventory and Hay's Appearance Rating Scale administered by a team consisting of a child psychiatrist, psychologist and social worker, 6 months before surgery and 1, 2 and 4 years after surgery.

Acrocephalosyndactylia↗
PubMed1994

Timing of treatment for craniosynostosis and facio-craniosynostosis: a 20-year experience.

The timing of surgery for craniosynostosis is still controversial. Having used the same basic techniques since 1973, and having done follow-up on the growth of our 983 operated patients, we thought it useful to report our protocol. Early frontocranial remodelling is performed between 2 and 4 months for brachycephalies, but the other craniosynostoses are operated on between 6 and 12 months of age. When diagnosis is made later, we perform the same operations until 4 years of age, with some modifications, such as a tongue in groove advancement for brachycephalies, and a complete closure of the bony defects after 2 years of age. Later on, facial distortion and frontal sinus development complicate the surgery. For syndromal craniofacial synostosis, we prefer to perform a two-step operation: forehead advancement first, facial advancement later, to avoid the risk of frontal osteitis. The frontofacial monobloc is indicated, in our opinion, for severe exorbitism in infancy but otherwise we prefer a two-stage procedure. Facial bipartition is necessary to narrow the upper face and widen the maxilla in Apert's syndrome.

Acrocephalosyndactylia↗
PubMed1994

Fronto-orbital re-operation in craniosynostosis.

The need for fronto-orbital re-advancement is reported from all cases of craniosynostosis operated on in the Birmingham and Oxford Craniofacial Units since 1979. Analysis of the 219 cases demonstrates a significantly higher re-operation rate in cases of syndromal craniofacial dysostosis or unilateral coronal synostosis initially operated on below the age of 6 months. Mild bicoronal, sagittal and metopic synostotic cases, however, did uniformly well with the timing of initial surgery having little influence on the re-operation rates.

Age Factors↗
PubMed1981

Fracture of the shaft of ulna and radius with associated dislocation of the radial head.

Fourteen cases of fracture of the shaft of ulna and radius with associated dislocation of the radial head in adults are presented. The dislocation was initially missed in 42 per cent of cases. Several closed and open therapeutic procedures were performed either for the dislocation or the shaft fractures. In these patients, with follow-up averaging 5.9 years, the incidence of complications (redislocation, mal-union, pseudarthrosis, radio-ulnar synostosis, peri-articular ossification) was noteworthy. Final evaluation according to the range of motion of the forearm, showed a high incidence of unsatisfactory results. Predisposing to these results were delayed reduction of the dislocation, repeated and forceful manipulation and manual pressure on the radial head, inadequate reduction or stabilization of the fractures and a long period in the plaster cast. Guide lines for early diagnosis and efficient treatment are suggested.

Adolescent↗
PubMed1991

Internal fixation of forearm fractures in the 1980s: lessons to be learnt.

A series of 156 diaphyseal forearm fractures in 108 patients were treated by internal fixation between 1980 and 1985. These cases have been critically reviewed in the light of the present knowledge and expertise of internal fixation. A total of 122 fractures were fixed with ASIF compression plates. An analysis of results shows that 17 patients (15.7 per cent) had a poor clinical symptom result, 29 patients (26.9 per cent) had a poor functional score, 14 (13 per cent) had a poor subjective and employment score, and 40 fractures (32 per cent) united after 18 weeks. Non-union rate was 10.3 per cent, the infection rate was 5.5 per cent and there were three cases (2.7 per cent) of synostosis. Only six patients had primary cancellous bone grafting. A statistical analysis of the variables which may affect the result shows that the most important factors are accurate reduction of the fracture, correct use of interfragmentary screw fixation and rigid fixation. Failure to observe these rules will produce a poor result. Fracture complexity and comminution, especially if combined with a butterfly fragment, predispose to a poor result.

Adolescent↗