Jimenez, D F; Barone, C M; Argamaso, R V; Goodrich, J T; Shprintzen, R J
Posterior plagiocephaly historically has been associated with synostosis of the lambdoid suture. The incidence, diagnosis, and modes of treatment for stenosis of the lambdoid suture remain controversial. Commonly, the lambdoid suture is found to be open both on radiographic examination and at the time of surgery. The study reports on nine patients who presented with unilateral posterior plagiocephaly and who were found to have open lambdoid sutures, but a stenosed region of the asterion. The area of involvement included the distal-most lambdoid suture, the parietomastoid, occipitomastoid, and proximal squamosal sutures. Positional molding or torticollis was ruled out in all patients. All the patients showed progressive involvement of the skull base, including anterior shifts of the ipsilateral ear, compensatory ipsilateral frontal bossing and malar protrusion. Stenosis of the asterion was diagnosed with three-dimensional computed tomography scans, corroborated at the time of surgery and confirmed histologically. Surgical correction involved resection of the affected asterion and reconstruction using a bandeau-technique, barrel staves of the occipital bone and bone graft transposition. This approach provided excellent esthetic results in all patients.
Mollen, Bas P; Heesterbeek, Petra J C; de Vos, Maarten J; ten Ham, Arno M
A humero-ulnar synostosis is a bony connection between the humerus and the ulna. This is a very rare finding and it results in a serious disability of the elbow. Usually, a synostosis of the elbow occurs as a congenital anomaly. In this case, a 6-year-old girl was seen with a post-traumatic humero-ulnar synostosis, which has never been reported in the literature before. Surgical resection of the humero-ulnar synostosis was performed. Along with rapid intensive physical therapy, almost full recovery of function was achieved. The short-term result is very satisfactory, but the long-term results and recurrence rate are still unknown.
Hurley, Maja E.; Kelleher, Jerry; White, Martin J.; Green, Andrew J.
This report describes a newborn boy with Antley-Bixler (AB) syndrome. AB syndrome is a rare disorder characterized mainly by craniosynostosis and multiple joint contractures including radiohumeral synostosis. Our patient differs from the usual presentation by the presence of radioulnar rather than a radiohumeral synostosis. In addition, the child had a FGFR1 1300T mutation, which has not previously been associated with AB syndrome. Thus, our patient presents unique features and represents another argument in favour of an AB-like spectrum rather than a single syndrome. (orig.)
Full Text Available Radioulnar synostosis is a rare complication of forearm fractures. The formation of a bony bridge induces functional disability due to limitation of the pronosupination. Although the etiology of posttraumatic synostosis is unknown, it seems that the incidence is higher in patients who have suffered a concomitant neurological or burn trauma, and extensive soft tissue injury, mainly due to high-energy impact. Surgical treatment, such as reinsertion of distal biceps tendon into the radius, seems to be another possible factor. The aim of the surgical treatment is to remove the bony bridge and restore complete range of movement (ROM, thus preventing recurrence. Literature does not indicate a preferred type of surgical procedure for the aforementioned complication; however, it has been shown that surgical interposition of inert material reduces the formation rate of recurrent bony bridge. We describe a surgical technique in two cases in which the radius and ulna were wrapped with allogenic, cadaver fascia lata graft to prevent bony bridge formation. The data from 2 years of follow-up are reported, indicating full restoration of ROM and no recurrence of synostosis.
Johns, Dana; Blagg, Ross; Kestle, John R. W.; Riva-Cambrin, Jay K.; Siddiqi, Faizi; Gociman, Barbu
Background Historically, surgical treatment of children with a delayed presentation of cranial synostosis required complex cranial vault reconstruction. Recently, less invasive options for surgical correction, such as internal distraction osteogenesis, have been explored. In this study, we describe the successful management of delayed presentation of sagittal synostosis using distraction osteogenesis. Methods A bicoronal incision was made and 2 large rectangular osteotomies were performed bil...
Guimaraes-Ferreira, J.; Gewalli, F.; David, L.
The aim of this study was to characterise the preoperative morphology of the skull in sagittal synostosis in an objective and quantified way. The shapes of the skulls of 105 patients with isolated premature synostosis of the sagittal suture ( SS group) were studied and compared with those of a co...
Ramer, J C; Ladda, R L
Sibs with virtually identical humero-radial synostosis (HRS) are presented and compared with 17 previously reported cases from the literature of recessively transmitted HRS. The range of anomalies described includes (in addition to humero-radial synostosis) ulnar hypoplasia, patellar hypoplasia, and chronic glomerulo-nephritis.
Marik, I.; Kaissi, A.; Ghachem, M.; Chehida, F.; Safi, H.; Masel, J.; Kozlowsk, K.
Spondylocarpotarsal synostosis syndrome - a rarely recognised entity - is characterised by malsegmentation of the spine and carpal/tarsal fusions. The main reason for the rarity of its diagnosis is that radiographs of the hands and feet are not routinely performed in children with scoliosis and/or kyphoscoliosis, and fusion of the carpal/tarsal bones may not be evident in preschool children. We report four patients with spondylocarpotarsal synostosis syndrome; the diagnosis in three of these was not made until radiographs of the hands were performed. The amount of scoliosis was much less evident in two of these patients (sibs) than in the others. (author)
X-ray of the bones showed an oblique fracture in the distal end of the shaft of fibula which is suggestive of post traumatic tibiofibular synostosis (TFS). Knowledge of distal TFS is important in resolving the puzzle of chronic shin pain of unknown origin and in accurate diagnosis of causes of ankle deformity and malformations.
Hersh, J H; Joyce, M R; Profumo, L E
We report on a patient with humero-radio-ulnar synostosis and upper limb oligoectrosyndactyly. All cases have been sporadic including discordance in monozygotic twins, and similar findings have occurred in thalidomide embryopathy. Further observations of similarly affected patients are needed to elucidate the nature of this upper limb defect and its cause.
Elliott, Alison M.; Kibria, Lisa; Reed, Martin H.
Proximal radioulnar synostosis is a rare upper limb malformation. The elbow is first identifiable at 35 days (after conception), at which stage the cartilaginous anlagen of the humerus, radius and ulna are continuous. Subsequently, longitudinal segmentation produces separation of the distal radius and ulna. However, temporarily, the proximal ends are united and continue to share a common perichondrium. We investigated the hypothesis that posterior congenital dislocation of the radial head and proximal radioulnar fusion are different clinical manifestations of the same primary developmental abnormality. Records were searched for ''proximal radioulnar fusion/posterior radial head dislocation'' in patients followed at the local Children's Hospital and Rehabilitation Centre for Children. Relevant radiographic, demographic and clinical data were recorded. Ethics approval was obtained through the University Research Ethics Board. In total, 28 patients met the inclusion criteria. The majority of patients (16) had bilateral involvement; eight with posterior dislocation of the radial head only; five had posterior radial head dislocation with radioulnar fusion and two had radioulnar fusion without dislocation. One patient had bilateral proximal radioulnar fusion and posterior dislocation of the left radial head. Nine patients had only left-sided involvement, and three had only right-sided involvement.The degree of proximal fusion varied, with some patients showing 'complete' proximal fusion and others showing fusion that occurred slightly distal to the radial head: 'partially separated.' Associated disorders in our cohort included Poland syndrome (two patients), Cornelia de Lange syndrome, chromosome anomalies (including tetrasomy X) and Cenani Lenz syndactyly. The suggestion of a developmental relationship between posterior dislocation of the radial head and proximal radioulnar fusion is supported by the fact that both anomalies can occur in the same patient. Furthermore
Elliott, Alison M. [University of Manitoba, Winnipeg Regional Health Association Program of Genetics and Metabolism, Winnipeg, MB (Canada); University of Manitoba, Department of Paediatrics and Child Health, Winnipeg, MB (Canada); University of Manitoba, Department of Biochemistry and Medical Genetics, Winnipeg, MB (Canada); University of Manitoba, WRHA Program of Genetics and Metabolism, Departments of Paediatrics and Child Health, Biochemistry and Medical Genetics, Winnipeg, MB (Canada); Kibria, Lisa [University of Manitoba, Department of School of Medical Rehabilitation, Winnipeg, MB (Canada); Reed, Martin H. [University of Manitoba, Department of Paediatrics and Child Health, Winnipeg, MB (Canada); University of Manitoba, Department of Biochemistry and Medical Genetics, Winnipeg, MB (Canada); University of Manitoba, Department of Diagnostic Imaging, Winnipeg, MB (Canada)
Proximal radioulnar synostosis is a rare upper limb malformation. The elbow is first identifiable at 35 days (after conception), at which stage the cartilaginous anlagen of the humerus, radius and ulna are continuous. Subsequently, longitudinal segmentation produces separation of the distal radius and ulna. However, temporarily, the proximal ends are united and continue to share a common perichondrium. We investigated the hypothesis that posterior congenital dislocation of the radial head and proximal radioulnar fusion are different clinical manifestations of the same primary developmental abnormality. Records were searched for ''proximal radioulnar fusion/posterior radial head dislocation'' in patients followed at the local Children's Hospital and Rehabilitation Centre for Children. Relevant radiographic, demographic and clinical data were recorded. Ethics approval was obtained through the University Research Ethics Board. In total, 28 patients met the inclusion criteria. The majority of patients (16) had bilateral involvement; eight with posterior dislocation of the radial head only; five had posterior radial head dislocation with radioulnar fusion and two had radioulnar fusion without dislocation. One patient had bilateral proximal radioulnar fusion and posterior dislocation of the left radial head. Nine patients had only left-sided involvement, and three had only right-sided involvement.The degree of proximal fusion varied, with some patients showing 'complete' proximal fusion and others showing fusion that occurred slightly distal to the radial head: 'partially separated.' Associated disorders in our cohort included Poland syndrome (two patients), Cornelia de Lange syndrome, chromosome anomalies (including tetrasomy X) and Cenani Lenz syndactyly. The suggestion of a developmental relationship between posterior dislocation of the radial head and proximal radioulnar fusion is supported by the fact that both anomalies
Full Text Available Background: Presentation of proximal radioulnar synostosis varies from cosmetic concerns with no functional limitations to significant pronation deformity which hampers activities of daily living. Surgical management must be considered based on the position of the forearm and functional limitations. We describe the surgical technique, results, and complications of excision of the radial head along with the proximal radius up to the distal extent of the synostosis site and securing the osteotomized radial shaft with a tensor fascia lata graft. Materials and methods: Four patients having six affected elbows with delayed presentation of congenital proximal radioulnar synostosis with dislocated radial head managed surgically were included in the study. There were three males and one female with an average age of 20.25 years (ranging from 16 to 25 years. Preoperatively wrists were locked in the mean pronation position of 51.6° (ranging from 30° to 70°. The indications for surgery were limitation in activities of daily living and an obvious cosmetic deformity. Results: All patients were satisfied with the surgery and showed significant improvement in functional status. Mean active supination was 15° (ranging from 5 to 32° with passive supination was a mean of 24.8° (ranging from 11° to 44°. Similarly, mean active pronation was 58.5° (ranging from 50° to 71° with further passive correction up to a mean of 64.16° (ranging from 57° to 87° at last follow up. Conclusions: This procedure is simple, cost effective, and a reasonable option for treatment of proximal radioulnar synostosis with a dislocated radial head in adult patients. The operation does not require any specialized team or implants, and can be performed in a moderately equipped hospital.
Mendioroz, Jacobo; Fernández-Toral, Joaquín; Suárez, Etelvina
In 1988 Pfeiffer and Kapferer reported on a patient with sensorineural deafness, psychomotor delay, hypospadias, cerebral manifestations, and bilateral synostosis of the 4th and 5th metacarpals and metatarsals. Synostosis of the 4th and 5th metacarpals and metatarsals is a very rare defect that h...
Guimaraes-Ferreira, J.; Gewalli, F.; David, L.
The aim of this study was to characterise the postoperative cranial growth and morphology after a modified pi-plasty for sagittal synostosis. The shape of the skull of 82 patients with isolated premature synostosis of the sagittal suture ( SS group) operated on with a modified pi-plasty was studi...
van Ooij, Bas; van Ooij, André; Morrenhof, J. Wim; van Dijk, C. Niek
This paper presents a case report of persistent low back pain and suspected lumbar radiculopathy. A synostosis at the level of the proximal tibiofibular joint was diagnosed. After successful resection of the synostosis, the low back symptoms resolved completely. This is the first report of a
Kaissi, A. Al; Ghachem, M. Ben; Nassib, N.; Chehida, F. Ben [Hospital d' Enfants, Service d' orthopedie infantile, Tunis (Tunisia); Kozlowski, K. [Department of Medical Imaging, Sydney (Australia)
Spondylocarpotarsal synostosis syndrome (SSS) is characterised by malsegmentation of the thoracic spine and carpal/tarsal fusions. A unilateral or bilateral unsegmented bar may be present in the thoracic spine. Presenting clinical signs are congenital scoliosis early in life, and shortening of the trunk with scoliosis and/or lordosis in older children. We report a 13-year-old girl with SSS and a midline unsegmented bar running along the spinal processes of T3 to L2 and extending into the posterior vertebral elements. (orig.)
di Rocco, Federico; Baujat, Geneviève; Arnaud, Eric; Rénier, Dominique; Laplanche, Jean-Louis; Daire, Valérie Cormier; Collet, Corinne
TCF12 mutations have been reported very recently in coronal synostosis. We report several cases of familial coronal synostosis among four families harbouring novel TCF12 mutations. We observed a broad interfamilial phenotypic spectrum with features overlapping with the Saethre–Chotzen syndrome. TCF12 molecular testing should be considered in patients with unilateral- or bilateral-coronal synostosis associated or not with syndactyly, after having excluded mutations in the TWIST1 gene and the p.Pro250Arg mutation in FGFR3. PMID:24736737
Guilherme, Romain; Baumann, Clarisse; Garel, Catherine; Huten, Yolène; Oury, Jean-François; Delezoide, Anne-Lise
We report on two male sib fetuses with humero-radial synostosis and thumb hypoplasia, microcephaly with simplified gyral pattern, short corpus callosum and ambiguous genitalia. The main clinical, anatomopathological and imaging findings are presented and compared with previous cases of humero-radial synostosis as a prominent manifestation and with the X-linked lissencephaly with ambiguous genitalia syndrome (X-LAG). To our knowledge, this combination of anomalies has never been described before, and we propose that this disorder comprises a new humero-radial synostosis syndrome with an autosomal recessive or X-linked pattern of inheritance. 2008 Wiley-Liss, Inc.
Samson, G; Gardner, J C
We describe a growth-retarded newborn infant with craniosynostosis, microcephaly, hydrancephaly, oligodactyly, humero-radial synostosis, and normal chromosomes. The combination of anomalies has hitherto been unreported and we consider this to be a "new" syndrome.
Macrì, Francesco; De Majo, Massimo; Rapisarda, Giuseppe; Mazzullo, Giuseppe
Congenital limb deformities are rarely reported in cats. This paper describes the radiographic findings of congenital forelimb malformations in two cats. The radiographic changes were suggestive of an autopodium ectromelia associated with humero-ulnar synostosis in one case and zeugopodium ectromelia in the other case. Congenital feline limb deformities are poorly documented and, to the authors' knowledge, this is the first time that humero-ulnar synostosis has been reported in cats.
Freudlsperger, Christian; Steinmacher, Sahra; Bächli, Heidi; Somlo, Elek; Hoffmann, Jürgen; Engel, Michael
There is still disagreement regarding the intracranial volumes of patients with metopic synostosis compared with healthy patients. This study aimed to compare the intracranial volume of children with metopic synostosis before and after surgery to an age- and sex-matched control cohort using three-dimensional (3D) photogrammetry. Eighteen boys with metopic synostosis were operated on using standardized fronto-orbital advancement. Frontal, posterior and total intracranial volumes were measured exactly 1 day pre-operatively and 10 days post-operatively, using 3D photogrammetry. To establish an age- and sex-matched control group, the 3D photogrammetric data of 634 healthy boys between the ages of 3 and 13 months were analyzed. Mean age at surgery was 9 months (SD 1.7). Prior to surgery, boys with metopic synostosis showed significantly reduced frontal and total intracranial volumes compared with the reference group, but similar posterior volumes. After surgery, frontal and total intracranial volumes did not differ statistically from the control group. As children with metopic synostosis showed significantly smaller frontal and total intracranial volumes compared with an age- and sex-matched control group, corrective surgery should aim to achieve volume expansion. Furthermore, 3D photogrammetry provides a valuable alternative to CT scans in the measurement of intracranial volume in children with metopic synostosis, which significantly reduces the amount of radiation exposure to the growing brain. Copyright © 2015 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.
Out of 13 patients with cogenital radio-ulnar synostosis, 10 could be subjected to clinical and X-ray examination and chromosome analysis. In all the family histories the radio-ulnar synostosis was an isolated event. In no case was definite heredity of the same malformation confirmed. In most cases the radio-ulnar synostosis was an isolated malformation. 7 patients were of female, 6 of male sex. In 5 cases the synostosis was bi-lateral, in 8 cases it was unilateral without preference of either side of the body. In 2 out of 10 patients subjected to chromosome analysis gonosomal aneuploidy was found. More often than hitherto supposed, radio-ulnar synostosis seems to be associated with lower forms of polysomia of the x-chromosomes. 15 out of 18 synostoses belonged to type II, 3 to type I. The different types represent merely differring degrees of manifestation of the same deformity occurring bilaterally in one person. All patients with radio-ulnar synostosis exhibited a high degree of functional tolerance to the malformation. The development in child age and the educational and professional record were hardly impaired. (orig./MG) [de
Achraf El Bakkaly
Full Text Available Congenital radioulnar synostosis is an uncommon condition, only 400 cases have been reported in the world literature. Often bilateral, it can be recognized from birth by a clinical examination if it is attentive (examination of the prono-supination of the two elbows. It is in fact often discovered later, especially in unilateral forms, in children of school age. The proximal congenital radioulnar synostosis often results in functional, cosmetic limitations of the upper limb especially in the bilateral forms. Rotational osteotomy through the synostosis site is the usual procedure. The techniques and sites envisaged for this surgery are numerous, with multiple difficulties, risks and possible complications. We propose the observation of an eight-year-old boy with a symptomatic form of proximal radioulnar synostosis. The surgical treatment consisted of a resection of the synostosis with rotational transversalosteotomy of the two bones of the forearm completed by a plaster in neutral position. Clinical results, evaluated at an average of twelve months postoperatively, were found to be satisfactorily on aesthetic and functional levels. The aim of our work is to highlight our simple and reliable surgical procedure of the osteotomy of the synostosis maintained by spindles, allowing the functional improvement of the movements of the forearm of our child and thus a normal life.
Full Text Available A finger rendered unstable due to loss of metacarpal head can be stabilized by creating a synostosis at the base of the proximal phalanx of the affected finger with the adjacent normal finger. A cortico cancellous graft bridges the two adjacent proximal phalanges at their bases which are temporarily stabilized with an external fixator. The procedure can be done for, recurrence of giant cell tumor of metacarpal and for traumatic metacarpal loss. The procedure and long term follow up of one patient is presented who had giant cell tumor. This option should be considered before offering ray amputation. There is no micro vascular surgery involved, nor is there any donor site morbidity. The graft heals well without any absorption. The affected finger shows excellent function in the long term followup.
Breitling, Magnus; Rabin, Michael [University of Saskatchewan, Department of Medical Imaging, Saskatoon, Saskatchewan (Canada); Lemire, Edmond G. [University of Saskatchewan, Division of Medical Genetics, Department of Pediatrics, Saskatoon (Canada)
Spondylocarpotarsal synostosis syndrome (SSS) is a rare autosomal recessive condition characterized primarily by vertebral malsegmentation, carpal/tarsal coalition, and a dysmorphic appearance. Differentiating SSS from other congenital scoliosis syndromes requires evaluation of the vertebrae, ribs, soft tissues, and spinal cord. The enhanced resolution over plain radiographs seen with MRI allows more detailed assessment of vertebral malformation and surrounding anatomy. Diagnosis of the underlying cause of congenital scoliosis might be enhanced using this technology. We report on a 12-year-old girl of unaffected parents with SSS who was evaluated with MRI sequences of the spine to show various types of malsegmentation. Additionally, there is the new finding of fusion of teeth, with developmental failure of a canine incisor. (orig.)
Currarino, Guido [Texas Scottish Rite Hospital, Department of Radiology, Dallas, TX (United States)
The recent observations of two new cases of X-linked hypophosphatemic rickets associated with premature closure of the sagittal suture prompted a review of similar cases seen in this institution. To review the clinical records and skull radiographs of 28 children with hypophosphatemic rickets in order to investigate the frequency and type of craniosynostosis and other cranial vault changes seen in these conditions and to review the literature for relevant findings. Clinical and imaging records were reviewed on 28 patients with hypophosphatemic rickets, all younger than 18 years. Most patients had X-linked hypophosphatemic rickets and a few had autosomal-dominant hypophosphatemic rickets or were non-familial cases. Of the 28 patients, 13 had sagittal synostosis. Dolichocephaly was present in ten patients. The configuration of the cranial vault in some of these ten patients with dolichocephaly varied somewhat from that seen in nonsyndromic sagittal synostosis. In one patient, a Chiari I malformation was demonstrated by MRI. In another patient with increased intracranial pressure the sagittal suture closure was associated with lambdoidal synostosis. Dolichocephaly was not present in three patients, suggesting that the synostosis started later than in the other patients, probably in the second year of life, a period of slower brain growth than in the first year. The two patients in this group of three showed thickening and sclerosis of the cranial vault of uncertain etiology. There is an increased risk of sagittal synostosis in hypophosphatemic rickets and related diseases in children. The appearance of the cranial vault in this type of synostosis can vary from that seen in nonsyndromic synostosis. In this setting, careful clinical and imaging follow-up is warranted. (orig.)
Full Text Available Neurogenic, heterotopic ossification is characterised by the formation of new, extraosseous (ectopic bone in soft tissue in patients with neurological disorders. A 33-year-old female, who was born with spina bifida, paraplegia, and diastasis of symphysis pubis, had indwelling urethral catheter drainage and was using oxybutynin bladder instillations. She was prescribed diuretic for swelling of feet, which aggravated bypassing of catheter. Hence, suprapubic cystostomy was performed. Despite anticholinergic therapy, there was chronic urine leak around the suprapubic catheter and per urethra. Therefore, the urethra was mobilised and closed. After closure of the urethra, there was no urine leak from the urethra, but urine leak persisted around the suprapubic catheter. Cystogram confirmed the presence of a Foley balloon inside the bladder; there was no urinary fistula. The Foley balloon ruptured frequently, leading to extrusion of the Foley catheter. X-ray of abdomen showed heterotopic bone formation bridging the gap across diastasis of symphysis pubis. CT of pelvis revealed heterotopic bone lying in close proximity to the balloon of the Foley catheter; the sharp edge of heterotopic bone probably acted like a saw and led to frequent rupture of the balloon of the Foley catheter. Unique features of this case are: (1 temporal relationship of heterotopic bone formation to suprapubic cystostomy and chronic urine leak; (2 occurrence of heterotopic ossification in pubic region; (3 complications of heterotopic bone formation viz. frequent rupture of the balloon of the Foley catheter by the irregular margin of heterotopic bone and difficulty in insertion of suprapubic catheter because the heterotopic bone encroached on the suprapubic track; (4 synostosis between pubic bones as a result of heterotopic ossification..Common aetiological factors for neurogenic, heterotopic ossification, such as forceful manipulation, trauma, or spasticity, were absent in this
Osborn, A J; Roberts, R M; Mathias, J L; Anderson, P J; Flapper, W J
Neurodevelopmental delays are known to occur in children with metopic synostosis, but it is presently unclear whether the cognitive, behavioral and psychological outcomes of children with metopic synostosis differ to those of their healthy peers. This meta-analysis consolidated data from 17 studies (published prior to August 2017) that examined the cognitive, behavioral and psychological outcomes of children (n = 666; aged ≤19 yrs) with metopic synostosis. Hedges'g (g w ) effect sizes compared the outcomes of samples with metopic synostosis (unoperated, operated) to healthy controls or normative data and, where available, the prevalence of problems/disorders was calculated. Children with unoperated metopic synostosis performed significantly worse than their healthy peers on measures of: general cognition (g w = -.38), motor functioning, (g w = -.81), and verbal (g w = -.82) and visuospatial (g w = -.92) abilities. Children with operated metopic synostosis performed significantly worse on measures of motor functioning (g w = -.45), visuospatial skills (g w = -.32), attention (g w = -.50), executive functioning (g w = -.36), arithmetic ability (g w = -.37), and behavior (g w = -.34). Cognitive, behavioral, and psychological problems were prevalent, but variable. Overall, the cognitive, behavioral, and psychological outcomes of children with metopic synostosis are generally worse than their healthy peers, regardless of surgical status. However, research is sparse, samples small, controls are rarely recruited, and the severity of metopic synostosis often not stated. Nevertheless, the findings suggest that children with metopic synostosis are likely to experience a variety of negative outcomes and should therefore receive ongoing monitoring and support.
Pijpers, M.; Poels, P.J.P.; Vaandrager, J.M.; Hoog, M. de; Berg, S.W. van den; Hoeve, H.J.; Joosten, K.F.
Children with syndromal craniofacial synostosis have a high risk for obstructive sleep apnea syndrome. Early diagnosis and treatment can relieve symptoms and morbidity. Little is known about the development and natural history of obstructive sleep apnea syndrome through life. The aim of this study
Savoldelli, G; Schinzel, A
The Antley-Bixler syndrome is characterized by multiple skeletal fusions including humero-radial synostosis, anterior bowing of the femora, cardiac and renal malformations and a high incidence of early postnatal lethality. In the pregnancy of a mother who had previously given birth to a child with the Antley-Bixler syndrome, prenatal ultrasound diagnosis was performed at 17 and 20 weeks. Fixed flexion of about 80 degrees in both elbows was seen together with humero-radial synostosis and bowing of the ulnae. The fetus performed jerky craniocaudal movements in its shoulders, but did not, during five hours of real-time observation, move at all in the elbows. Mild anterior bowing of the femora was also observed. The pregnancy was terminated at 21 weeks, and radiological examination of the female fetus confirmed the above mentioned findings including complete bilateral humero-radial synostosis. She also had cardiac and renal malformations. An ultrasound diagnosis of syndromes which have humero-radial synostosis as one feature is possible. Immobility and flexion in the elbows during a long period is probably the essential diagnostic finding.
Guimaraes-Ferreira, J.; Gewalli, F.; David, L.
The aim of this study was to characterise the postoperative cranial growth and morphology after a modified pi-plasty for sagittal synostosis. The shape of the skull of 82 patients with isolated premature synostosis of the sagittal suture ( SS group) operated on with a modified pi-plasty was studied...... developed by Kreiborg, which included the digitisation of 89 landmarks of the calvaria, cranial base, and orbit ( 43 in the lateral and 46 in the frontal projections), the production of mean shape plots for each group, and the intergroup comparison of a series of 78 variables ( linear distance between...... selected landmarks, and angles defined by groups of three landmarks). Paired and unpaired t tests were used to assess the differences between the variables studied. These were accepted as significant for values of p...
Berney, M J
Sagittal synostosis (SS) is the commonest form of craniosynostosis. Children with sagittal synostosis in Ireland are treated in the National Paediatric Craniofacial Centre (NPCC) in Temple Street Children’s University Hospital. This retrospective study analysed the correlation between referral patterns to the unit and age at operation. The notes of 81 patients referred over a 5 year period (April 2008 – April 2013) to the NPCC with non-syndromic SS were reviewed and demographics and referral information were recorded. Of 81 patients reviewed, 60 (74%) were referred before 6 months of age, while 21 (26%) had late referrals. Neonatologists referred 100% of infants before 6 months, paediatricians referred 71%, and GPs 64%. Later referral was associated with a more complex referral pathway, including multiple-steps of referral and unnecessary investigations. Improved clinician knowledge and emphasis on the importance of early referral may lead to a reduction in late referrals.
Full Text Available Posttraumatic radioulnar synostosis (RUS is a rare event following forearm fractures. Consequences are disabling for patients who suffer from functional limitation in forearm pronosupination. Distal RUS are even more rare and more difficult to treat because of high recurrence rates. The patient we describe in this paper came to our attention with a double distal RUS recurrence and a Darrach procedure already performed. We performed a radical excision of RUS and interposition with a vascularized dorsoulnar artery (DUA adipofascial perforator flap. Four years after surgery, the patient shows the same complete range of motion in pronosupination, and MRI confirms that the flap is still in place with signs of vascularization. Simple synostosis excision has been proven ineffective in many cases. Interposition is recommended after excision, and biological material interposition seems to be more effective than foreign material. Surgeons are increasingly performing vascularized interposition, and the results are very encouraging.
Nakasone, Motoko; Nakasone, Satoshi; Kinjo, Masaki; Murase, Tsuyoshi; Kanaya, Fuminori
We reconstructed three-dimensional images of radius and ulna in 38 forearms of 25 patients with congenital proximal radioulnar synostosis from their computed tomographic studies. We also analysed correlations between the deformities of radius and ulna and degrees of fixed pronation of these forearms. The average ulnar deviation, flexion and internal rotation deformities of the radius were 6°, 3° and 18°, respectively. The average radial deviation, extension and internal rotation deformities of the ulna were 3°, 4° and 30°, respectively. The flexion deformity of the radius and the internal rotation deformity of the radius and ulna were correlated significantly with degree of fixed pronation. We conclude that the patients with congenital proximal radioulnar synostosis have remarkable flexion deformity of the radius and internal rotation deformity of the radius and ulna, which might impede forearm rotation after corrective surgery in the proximal part of the forearm.
Ryan, R.S.; Munk, P.; Myckatyn, S.O.; Reid, G.D.
We report a case of Alagille syndrome (arteriohepatic dysplasia) with the unusual radiological abnormality of synostosis of the proximal portions of the radius and ulna bilaterally, a manifestation which, to our knowledge, has not previously been described in a specific patient in the English language literature. We also describe additional features of the syndrome in the same patient and review the published literature on radiological manifestations of this condition. (orig.)
Karabel, M; Yolbaş, I; Kelekçi, S; Sen, V; Haspolat, Yk; Timuroğlu, L
Trisomy 13 (Patau syndrome) was first described by Patau et al in 1960. It is characterized by serious head, facial, and extremity anomalies, congenital heart defects, and mental abnormalities. The incidence rate of Trisomy 13 is 1/10.000 live births. Accompanying symptoms and findings vary in rate and severity among the cases. Tetralogy of Fallot and metopic synostosis are very rare abnormalities in patients with Trisomy 13. In this study, we aimed to present a newborn girl with trisomy 13 who had multiple congenital malformations accompanied by tetralogy of Fallot and metopic synostosis. Description of the case: The patient was delivered at 40 weeks of gestation, and admitted to the neonatal intensive care unit due to respiratory distress and physical abnormalities. The newborn examination revealed multiple dysmorphic features. She had boot-shaped appearance on the chest radiograph. Chromosome analysis demonstrated mosaic trisomy 13. Patients with trisomy 13 may have different type of gene variations and malformations; however, the most common type of gene variation is classic trisomy 47, XX +13, and the most common malformations are facial anomalies and congenital heart defects. In addition, tetralogy of Fallot and metopic synostosis may accompany trisomy 13.
Karabel, M; Yolbaş, I; Kelekçi, S; Şen, V; Haspolat, YK; Timuroğlu, L
Background and Aim: Trisomy 13 (Patau syndrome) was first described by Patau et al in 1960. It is characterized by serious head, facial, and extremity anomalies, congenital heart defects, and mental abnormalities. The incidence rate of Trisomy 13 is 1/10.000 live births. Accompanying symptoms and findings vary in rate and severity among the cases. Tetralogy of Fallot and metopic synostosis are very rare abnormalities in patients with Trisomy 13. In this study, we aimed to present a newborn girl with trisomy 13 who had multiple congenital malformations accompanied by tetralogy of Fallot and metopic synostosis. Description of the case: The patient was delivered at 40 weeks of gestation, and admitted to the neonatal intensive care unit due to respiratory distress and physical abnormalities. The newborn examination revealed multiple dysmorphic features. She had boot-shaped appearance on the chest radiograph. Chromosome analysis demonstrated mosaic trisomy 13. Conclusion: Patients with trisomy 13 may have different type of gene variations and malformations; however, the most common type of gene variation is classic trisomy 47, XX +13, and the most common malformations are facial anomalies and congenital heart defects. In addition, tetralogy of Fallot and metopic synostosis may accompany trisomy 13. PMID:24470740
McVeigh, Terri P; Soye, Jonathan A; Gordon, Emma; Lynch, Sally A
Congenital anomalies of the upper limbs are rare and etiologically heterogeneous. Herein, we report a male infant with non-syndromic bilateral Type Vb ulnar longitudinal dysplasia with radiohumeral synostosis (apparent humeral bifurcation), and bilateral oligo-ectro-syndactyly who was born following an uncomplicated pregnancy, with no maternal use of prescription or illicit medication. Array CGH (60,000 probes) and chromosomal breakage analysis (DEB) were normal. Similar appearances have been reported in children exposed to thalidomide or cocaine, but sporadic patients have also been reported without a prior history of exposure to known teratogens. © 2018 Wiley Periodicals, Inc.
Hurst, Jane A; Jenkins, Dagan; Vasudevan, Pradeep C
Greig cephalopolysyndactyly syndrome (GCPS) is a multiple congenital malformation characterised by limb and craniofacial anomalies, caused by heterozygous mutation or deletion of GLI3. We report four boys and a girl who were presented with trigonocephaly due to metopic synostosis, in association ...
Burnei, G; Ghiță, R A; Pârvan, A A; Japie, E; Gavriliu, Ş; Georgescu, I; El Nayef, T; Tiripa, I; Hamei, Ş
Proximal congenital radial-ulnar synostosis (PCRUS) is defined by the development before birth of a bony bridge between the radius and ulna, usually at the proximal level, which blocks forearm rotation. This anomaly is rarely reported in the medical literature, because of its low prevalence, and treatment usually yields unsatisfactory results. The most commonly used surgical interventions are: forearm repositioning osteotomies with derotation of the radius and ulna, segmental resections of the middle third of the radius with muscular interposition, resection of the synostosis with the interposition of fatty tissue, tendons or fascia lata and resection of the proximal radius along with the transfer of the distal extensor carpi ulnaris tendon on the lateral edge of the radius. To describe a new treatment method for PCRUS, which we based on a new pathogenic concept, and to present our preliminary results. Between 2011 and 2013 our team performed two myo-osteo-arthroplastic reconstructions of the elbow and forearm for PCRUS. The intervention involves the extraperiosteal stripping of the origins of the ventral forearm musculature, release of the interosseous membrane, resection of the proximal two thirds of the radius, reshaping of the synostosis, a double osteotomy of the ulna and the transfer and fixation of a proximal fibular graft, including the head with its articular cartilage, in place of the resected segment of the radius. Our preliminary study reveals favorable postoperative results, in comparison with other published methods. At the latest follow-up, one case had -10 degrees of pronation and 68 degrees of supination, and the other had 10 degrees of pronation and 66 degrees of supination. Compared with other techniques, myo-osteo-arthroplastic reconstruction may seem overly invasive. However, the extent of this intervention is mandated by the pathogenic concepts of helical distortion, muscular retraction and anomalous configuration of the interosseous membrane
Accogli, Andrea; Pacetti, Mattia; Fiaschi, Pietro; Pavanello, Marco; Piatelli, Gianluca; Nuzzi, Daniele; Baldi, Maurizia; Tassano, Elisa; Severino, Maria Savina; Allegri, Anna; Capra, Valeria
We report on two patients with an unusual combination of achondroplasia and surgically treated sagittal synostosis and scaphocephaly. The most common achondroplasia mutation, p.Gly380Arg in fibroblast growth factor receptor 3 (FGFR3), was detected in both patients. Molecular genetic testing of FGFR1, FGFR2, FGFR3 and TWIST1 genes failed to detect any additional mutations. There are several reports of achondroplasia with associated craniosynostosis, but no other cases of scaphocephaly in children with achondroplasia have been described. Recently it has been demonstrated that FGFR3 mutations affect not only endochondral ossification but also membranous ossification, providing new explanations for the craniofacial hallmarks in achondroplasia. Our report suggests that the association of isolated scaphocephaly and other craniosynostoses with achondroplasia may be under recognized. © 2015 Wiley Periodicals, Inc.
Al-Hassnan, Zuhair N; Teebi, Ahmad S
Humero-radial synostosis (HRS) is a rare skeletal anomaly that might be seen in some craniosynostosis syndromes, notably Antley-Bixler syndrome, and in other disorders in association with skeletal anomalies. Here we report on two daughters of first cousin Saudi parents with syndromic HRS. Both patients had distinctive craniofacial features including cranium bifidum occultum, hypertelorism, epicanthus inversus, capillary hemangiomata, and malformed ears. Musculoskeletal examination revealed rhizomelic shortness with normal hands and feet. Skeletal survey showed bilateral HRS with no evidence of craniosynostosis. The craniofacial manifestations in these two patients do not match any of the syndromes known to be associated with HRS. We consider that the constellation is unique and apparently represents a previously unrecognized syndrome. (c) 2007 Wiley-Liss, Inc.
Hunter, A G; Cox, D W; Rudd, N L
This paper compares the manifestations of sporadic, dominantly inherited and recessively inherited humero-radial synostosis with the aim of determining ways of separating these forms on clinical grounds. The genetic forms are characterized by bilateral involvement and by lack of the distal ulnar malformations and the absence of digits that are common in the sporadic cases. The majority of patients with the dominantly inherited form have a characteristic pattern of anomalies, including brachymesophalangy, and the recessive cases have a high frequency of malformations in addition to those of the limbs. Consanguinity is frequent in the families of recessive cases. Four additional patients are presented; two of them illustrate many of the features of the phocomelic syndrome reported by Herrmann et al. (1969). A possible teratogenic cause of these cases is discussed.
Wolfswinkel, Erik M; Howell, Lori K; Fahradyan, Artur; Azadgoli, Beina; McComb, J Gordon; Urata, Mark M
Of U.S. craniofacial and neurosurgeons, 94 percent routinely admit patients to the intensive care unit following cranial vault remodeling for correction of sagittal synostosis. This study aims to examine the outcomes and cost of direct ward admission following primary cranial vault remodeling for sagittal synostosis. An institutional review board-approved retrospective review was undertaken of the records of all patients who underwent primary cranial vault remodeling for isolated sagittal craniosynostosis from 2009 to 2015 at a single pediatric hospital. Patient demographics, perioperative course, and outcomes were recorded. One hundred ten patients met inclusion criteria with absence of other major medical problems. Average age at operation was 6.7 months, with a mean follow-up of 19.8 months. Ninety-eight patients (89 percent) were admitted to a general ward for postoperative care, whereas the remaining 12 (11 percent) were admitted to the intensive care unit for preoperative or perioperative concerns. Among ward-admitted patients, there were four (3.6 percent) minor complications; however, there were no major adverse events, with none necessitating intensive care unit transfers from the ward and no mortalities. Average hospital stay was 3.7 days. The institution's financial difference in cost of intensive care unit stay versus ward bed was $5520 on average per bed per day. Omitting just one intensive care unit postoperative day stay for this patient cohort would reduce projected health care costs by a total of $540,960 for the study period. Despite the common practice of postoperative admission to the intensive care unit following cranial vault remodeling for sagittal craniosynostosis, the authors suggest that postoperative care be considered on an individual basis, with only a small percentage requiring a higher level of care. Therapeutic, III.
Aypar, Ebru; Yildirim, M Selman; Sert, Ahmet; Ciftci, Ilhan; Odabas, Dursun
Trisomy 13, or Patau syndrome is a rare chromosomal disorder characterized by a triad of cleft lip and palate, postaxial polydactyly and microcephaly. Complete, partial, or mosaic forms of the disorder can occur. Mosaic trisomy 13 is very rare, it occurs in only 5% of all patients with trisomy 13 phenotype. Metopic synostosis (MS) is premature fusion of the metopic suture, which is part of the frontal suture. It results in a V-shaped abnormality at the front of the skull. MS may occur in a syndromic or nonsyndromic form. We report on a 24-day-old girl with hypotonia, MS, trigonocephaly, capillary hemangioma, hypotelorism, upward slanting palpebral fissures, epicanthal folds, small nose with anteverted nares, high palate, ankyloglossia, long philtrum, low-set ears, short neck, postaxial polydactyly of both hands and feet and congenital heart defect. Cytogenetic analysis demonstrated trisomy 13 mosaicism; 46,XX/47,XX,+13. Although MS has been previously reported in complete and partial forms of trisomy 13, it has not been reported in mosaic form of trisomy 13. Our report supports the evidence that trisomy 13 causes MS. It also emphasizes the need for cytogenetic investigations in patients presenting with MS and multiple congenital anomalies for providing accurate diagnosis, genetic counseling, and prenatal diagnosis. Copyright © 2011 Wiley-Liss, Inc.
Raposo-Amaral, Cassio Eduardo; Denadai, Rafael; Ghizoni, Enrico; Buzzo, Celso Luiz; Raposo-Amaral, Cesar Augusto
The premature fusion of unilateral coronal suture can cause a significant asymmetry of the craniofacial skeleton, with an oblique deviation of the cranial base that negatively impacts soft tissue facial symmetry. The purpose of this study was to assess facial symmetry obtained in patients with unilateral coronal synostosis (UCS) surgically treated by 2 different techniques. We hypothesized that nasal deviation should not be addressed in a primary surgical correction of UCS. Consecutive UCS patients were enrolled in a prospective study and randomly divided into 2 groups. In group 1, the patients underwent total frontal reconstruction and transferring of onlay bone grafts to the recessive superior orbital rim (n = 7), and in group 2, the patients underwent total frontal reconstruction and unilateral fronto-orbital advancement (n = 5). Computerized photogrammetric analysis measured vertical and horizontal axis of the nose and the orbital globe in the preoperative and postoperative periods. Intragroup and intergroup comparisons were performed. Intragroup preoperative and postoperative comparisons showed a significant (all P 0.05). Facial symmetry was achieved in the patients with UCS who underwent surgery regardless of surgical approach evaluated here. Our data showed a significant improvement in nasal and orbital-globe deviation, leading us to question the necessity of primary nasal correction in these patients.
Dias, M.S.; Klein, D.M.; Backstrom, J.W.
Between 1987 and 1992, 30 infants aged 1.4-13 months (mean 7.3 months) underwent unilateral lambdoid strip craniectomy at the Children's Hospital of Buffalo for occipital plagiocephaly. Males outnumbered females (22:8) and right-sided occipital flattening was significantly more common than left-sided flattening (25:5). The deformity was noticed at an average age of 3.2 months; 16% of the infants had an asymmetry at birth. Positional preferences (a distinct tendency to lie preferentially on the back, in most cases with the head turned to the ipsilateral side) were described in 79% of infants for whom this information was available, and torticollis was present in 10%. Pre-and post-operative CT scans were analyzed using several morphometric measurements. Asymmetries were measured between the flattened and contralateral sides, both posteriorly and anteriorly, using a translucent grid placed over the CT slice showing maximum asymmetry. The average maximum asymmetry between the flattened and contralateral sides was 24% posteriorly and 16% anteriorly. Significant improvements were seen postoperatively, with both anterior and posterior asymmetries improving by an average of one third (p < 0.05). However, when compared with CT scans from a control group of infants without synostosis, the operated group showed persistent and significant asymmetries postoperatively. The morphometric measurements described allow an objective and reproducible means of assessing the results of various treatments for this disorders. The improvements following unilateral lambdoid craniectomy are difficult to interpret in isolation; we suggest that future efforts be directed toward similarly assessing the results of both nonoperative treatments such as positional changes and molding helmets, and more aggressive surgical treatments that have been advocated for this disorders. (authors)
Messi, Marco; Consorti, Giuseppe; Lupi, Ettore; Girotto, Riccardo; Valassina, Davide; Balercia, Paolo
The technology adoption and creation of a multidisciplinary team have helped to overcome the complexity associated. Craniofacial surgery has thus emerged from the valuable contributions of neurosurgery, maxillofacial surgery, plastic surgery, eyes, nose, and throat as well as head and neck surgery. A patient with trigonocephaly may present a prominent "keel" forehead, accompanied by recession of the lateral orbit rims, hypotelorism, and constriction of the anterior frontal fossa when the metopic suture fuses before 6 months of age. In a period between 2007 and 2011, in the Salesi Children's Hospital, were treated for nonsyndromic variety of metopic synostosis 11 infants; their ages ranged from 6 months to 9 months, and 7 were males and 4 females. The most important aims of our new surgical technique are the achievement of symmetry as well as normal proportion and reconstruction of the frontoforehead unit but remaining in a very conservative treatment. The morphology and position of the supraorbital ridge-lateral orbital rim region are key elements of upper facial esthetics. This new "open-wings" technique for the reconfiguration of the bilateral emisupraorbital bar requires a midline incomplete osteotomy that involves only the internal cortex of the frontonasal region. Hence, both lateral orbital walls are bent inwardly and tilting forward, as in computed tomographic scan planning, with a greenstick fracture pivoting on the preserved medial frontonasal region. This open-wings conservative technique allows the avoidance of the most important complication that may result in the traditional way such as dead space in the anterior cranial fossa, infections, and blood loss but with an achievement of satisfactory craniofacial form and aesthetic result.
Shingade, Viraj U; Shingade, Rashmi V; Ughade, Suresh N
For congenital proximal radioulnar synostosis, both conservative and operative treatments have been described. Most of the studies describing surgical interventions are based on subjective evaluation of the forearm function and have used severe degree of forearm pronation as an indication for surgery. This study describes a single-staged rotational osteotomy of the proximal third ulna and distal third radius. The aim of the study was to assess the utility of the described surgical procedure by subjective and objective evaluations of the forearm function. Forty-eight children with congenital proximal radioulnar synostosis were evaluated by subjective and objective assessments and were followed up prospectively. Subjective evaluation consisted of a set of 12 questions regarding the basic activities of life. Objective evaluation was made using the Jebsen-Taylor hand-function test and a classification system used by Failla and colleagues for 15 tasks described by Morrey and colleagues. Eleven children were treated conservatively. Thirty-six children underwent a single-staged rotational osteotomy of the proximal third ulna and distal third radius. After surgery, the evaluations were repeated. The mean age at surgery was 8.6±3.7 years, and the mean postoperative follow-up period was 54±13 months. All operated forearms showed a statistically significant improvement in functioning after surgery as per the subjective and objective evaluations. The mean time taken to carry out all activities before surgery was 47.7+10.0 seconds, which significantly reduced to 33.3+6.6 seconds after surgery (P=0.0001) as per the results of the Jebsen-Taylor hand-function test. All good (n=19) and fair (n=11) results were converted to excellent (n=30) after surgery as per the modified Failla classification. There were no neurovascular injuries as compared with other published techniques. Only 1 child had delayed union, and 1 had persistent dorsal angulation at the radial osteotomy site. For
Nan, Bao; Bo, Yang; Yun-Hai, Song; Cheng, Chen; Xiong-Zheng, Mu
This study aimed to evaluate extensive cranioplasty involving the frontal, parietal, occipital, and temporal bones without removing the floating bone flaps in the treatment of sagittal synostosis. Sixty-three children with sagittal synostosis, aged 5 months to 3 years, were included in the study. The frontal bone flap was removed using an air drill. The occipital and bilateral temporal bone flaps were cut open but not detached from the dura mater or fixed to produce floating bone flaps. The skull bone was cut into palisade-like structures. Brain compression from both sides and the base of the skull was released and the brain expanded bilaterally through the enlarged space. Only a long strip-shaped bone bridge remained in the central parietal bone. Subsequently, the frontal bone flaps and occipital bone flap were pushed towards the midline and fixed with the parietal bone bridge to shorten the anteroposterior diameter of the cranial cavity and allow the brain to expand bilaterally to correct scaphocephaly. Patients were followed up 1-5 years. Skull growth was excellent in all patients, the anteroposterior diameter was shortened, the transverse diameter was increased, the prominent forehead was corrected, and scaphocephaly improved significantly. There were no complications such as death and skull necrosis. Surgery without removing bone flaps is less traumatic and results in no massive bleeding. It can effectively relieve brain compression and promotes transversal expansion of the brain during surgery and subsequent normal brain development. The skull of young children is relatively thin and early surgery can easily achieve satisfactory bone reshaping. Our surgical technique is not only safe and effective but also can avoid subsequent psychological disorders caused by skull deformity.
Reidler, Jay S; Das De, Soumen; Schreiber, Joseph J; Schneider, Darren B; Wolfe, Scott W
We present 2 cases of combined arterial and neurogenic thoracic outlet syndrome triggered by trauma in patients with congenital synostoses of the first and second ribs. These patients were successfully treated with supraclavicular resection of the first and second ribs and scalenectomy. We review these cases and the associated literature on thoracic outlet syndrome and rib synostosis. Copyright © 2014 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.
Bao Nan; Chu Jun; Wang Xue; Yang, Bo; Song, Yunhai; Cai, Jinjing
This study aimed to evaluate the effort of applying frontal and occipital bones in extensive cranioplasty and preserving multiple cranial bone flaps adhered to the dura mater in the treatment of sagittal synostosis. From April 2008 to June 2013, sixty-three children with sagittal synostosis, aged 5 months to 3 years, were included in the study. The frontal bone flap was removed using an air drill. The occipital and bilateral temporal bone flaps were cut open but not detached from the dura mater or fixed to produce floating bone flaps. The skull bone was cut into palisade-like structures. Brain compression from both sides and the base of the skull was released and the brain expanded bilaterally through the enlarged space. Only a long strip-shaped bone bridge remained in the central parietal bone. Subsequently, the frontal bone flaps and occipital bone flap were pushed towards the midline and fixed with the parietal bone bridge to shorten the anteroposterior diameter of the cranial cavity and allow the brain to expand bilaterally to correct scaphocephaly. The CT images showed that both sides of the parietal bone of artificial sagittal groove gradually merged postoperative 1 year, and skull almost completely normal healing after operation 2 or 3 years, without deformity recurrence within 5 years. Among them all, 61 children's intelligence is normal and 2 children's lagged behind normal level, no further improvement. Patients were followed up 1 - 5 years (an average of 43 months). Skull growth was excellent in all patients, the anteroposterior diameter was shortened by 14.6 mm averagely, the transverse diameter was increased by 12.3 mm averagely, the prominent forehead was corrected, and scaphocephaly improved significantly. There were no complications such as death and skull necrosis. The application of frontal and occipital bones in extensive cranioplasty and preserving multiple cranial bone flaps adhered to the dura mater can be used in the treatment of sagittal
Mertens, Christian; Wessel, Eline; Berger, Moritz; Ristow, Oliver; Hoffmann, Jürgen; Kansy, Katinka; Freudlsperger, Christian; Bächli, Heidrun; Engel, Michael
The aim of this study was to compare the outcome of intracranial volume (ICV) and cephalic index (CI) between two different techniques for surgical therapy of sagittal synostosis. Between 2011 and 2015, all patients scheduled for surgical therapy of sagittal synostosis were consecutively enrolled. All patients younger than 6 months underwent early extended strip craniectomy (ESC group), and patients older than 6 months underwent late modified pi-procedure (MPP group). To measure ICV and CI, data acquisition was performed via three-dimensional photogrammetry, 1 day before (T0) and between 10 and 12 weeks after surgery (T1). Results were compared with an age-matched reference group of healthy children. Perioperative parameters, as duration of surgery and the amount of blood loss of both surgical procedures were analyzed. A total of 85 patients were enrolled. Of the patients, 48 underwent an extended strip craniotomy with parietal osteotomies and biparietal widening and 37 patients underwent a late modified pi-procedure. There was no significant difference between the ESC group and the MPP group regarding the efficacy of improving CI (p > 0.05). Both techniques were able to normalize CI and to improve head shape. ICV was normal compared to age-matched norm-groups with both techniques, pre- and postoperatively. However, duration of the surgical procedure and calculated blood loss were significantly lower in the ESC group (p photogrammetry is a valid method to objectively evaluate patients before and after surgery without exposing pediatric patients to ionizing radiation. Copyright © 2017 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.
van Veelen, Marie-Lise C; Jippes, Marielle; Carolina, Julius-Carl A; de Rooi, Johan; Dirven, Clemens M F; van Adrichem, Leon N A; Mathijssen, Irene M
Surgery for sagittal synostosis aims at correction of skull shape and restoration of growth potential. Small cranial volume is associated with raised intracranial pressure (ICP). Although many techniques have been described, information on postoperative volume related to early and late remodeling is lacking. Between 2004 and 2008, a total of 95 patients were collected who underwent either early extended strip craniectomy or late total cranial remodeling according to age of presentation. Volume was measured on three-dimensional (3D) photogrammetry. Volume measurements were related to cranial index (CI), head circumference (HCsd), and signs of raised ICP. In a small subset of patients, volume measurements on 3D photogrammetry were assessed for inter- and intrarater reliability and compared to 3D computed tomography (CT). Volume was increased in all patients before and after surgery compared to normative values. Postoperatively, late total cranial remodeling resulted in a slightly larger volume than early extended strip craniectomy. Volume measurements showed a good correlation with HCsd (0.67) and a poor relationship with CI (0.13). Headache occurred more frequently in patients with a lower cranial volume. Although papilledema and reoperation showed the same trend, the numbers were too small for statistical analysis. Reproducibility of volume measurements on 3D photogrammetry was high, as was the correlation with measurements on CT. Late total cranial remodeling results in a larger postoperative volume, as measured on 3D photogrammetry, than extended strip craniectomy. Clinical signs of raised ICP occur more frequently in patients with a smaller volume. To measure volume, 3D photogrammetry is a good alternative to CT. Copyright © 2016. Published by Elsevier Ltd.
Tovetjärn, Robert; Maltese, Giovanni; Kölby, Lars
, with a mean perioperative bleeding of 237 (SD, 95) mL. The mean hospital stay was 6.3 (SD, 1.5) days, of which the mean intensive care unit stay was 1.6 (SD, 1.2) days. In 2 patients, one of the springs had to be reinserted because of postoperative dislocation. No other major complications were observed...
... protein helps build the network of protein filaments ( cytoskeleton ) that gives structure to cells and allows them to change shape and move. ... branching network of filaments that makes up the cytoskeleton. It also links ... within the cell, including the cell signaling that helps determine how ...
Two cases of a rare congenital deformity, humeroradial aplasia are reported in the article. In the first case the deformity was unilateral, in the second case a bilateral aplasia was associated to hip dislocation and aplasia of the os ischii.
Dahl, Vedrana Andersen; Einarsson, Gudmundur; Darvann, Tron Andre
. These measures are typically computed by guided procedures that require expert time. We propose a method with higher degree of automation based on finding an optimal smooth closed surface. CT scans of 17 infants with UCS are included in our experimental validation, where we compare our method to expert guided...
Guimaraes-Ferreira, J.; Gewalli, F.; David, L.
of a control group of 72 children with unilateral incomplete cleft lip (UICL). A standardised radiocephalometric technique was used to obtain the images. A modification of a method developed by Kreiborg was used to analyse the radiocephalograms, which included the digitisation of 88 landmarks in the calvaria...
Sun, James; Ter Maaten, Netanja S; Mazzaferro, Daniel M; Wes, Ari M; Naran, Sanjay; Bartlett, Scott P; Taylor, Jesse A
The aim of this study is to evaluate the effect of timing of surgery and spring characteristics on correction of scaphocephalic deformity in patients undergoing spring-mediated cranioplasty (SMC) for sagittal craniosynostosis. The authors conducted a review of patients with sagittal craniosynostosis who underwent SMC at a tertiary referral center between July 2011 and March 2017, with a primary outcome measure of head shape, both preoperatively and postoperatively, determined by cephalic index (CI). Patient demographics and operative details including timing of surgery and spring characteristics were collected. Differences in CI preoperation and postoperation were compared using Wilcoxon signed-rank test. Ordinary least-squares linear regression was used to assess the impact of timing, number of springs, maximum single spring force, and total spring force on postoperative change in CI. Thirty-six subjects (12 males and 24 females) were included in the study. Mean age at spring placement was 3.9 months (range: 1.9-9.2) with a mean follow-up of 1.4 years (range: 0.3-5.2). The mean number of springs used was 3 (range: 2-4). The mean maximum single spring force was 9.9 Newtons (N) (range: 6.9-13.0) and the mean total spring force was 24.6 N (range: 12.7-37.0). Mean CI increased from 70 ± 0.9 preoperatively to 77 ± 1.0 postoperatively (P spring placement was significantly associated with change in CI: for every month increase in age, the change in CI decreased by 1.3 (P = 0.03). The number of springs used, greatest single spring force, and total spring force did not correlate with changes in CI (P = 0.85, P = 0.42, and P = 0.84, respectively). In SMC, earlier age at time of surgery appears to correlate with greater improvement in CI, at least in the short-term. While spring characteristics did not appear to affect head shape, it is possible that the authors were underpowered to detect a difference, and spring-related variables likely deserve additional study.
Hardy, J; Pouliquen, J C
The authors have seen 5 children aged between 12 and 16 years suffering from a painful foot described as a recurrent sprain. Movements of the subtalar joint were limited and radiographs showed a hypertrophic calcaneal spur projecting towards the navicular but without fusion between the calcaneus and navicular. The calcaneal spurs were resected with good results and with an immediate symptomatic improvement.
Öwall, Birgitta Louise Charlotte; Darvann, Tron Andre; Larsen, P
the first 19 months of life, without secondary reconstruction; and DNA analysis for the Muenke mutation. An age- and sex-matched control group was employed. Interventions : The UCS group had undergone bilateral craniotomy of the frontal bone with unilateral supraorbital rim advancement. Main Outcome Measure...
ABSTRACT. Following the completion of the dissections of our cadaver we detached both the dissected lower limbs from the hip, and disjoint each by the knee and the ankle joints for maceration and preparation of bone specimens. After clearing the soft tissues of the limbs we observed that on the left lower limb there was ...
Albers, G. H.; de Kort, A. F.; Middendorf, P. R.; van Dijk, C. N.
Over an eight-year period up to 1983, a total of 322 consecutive patients had operations for ankle fractures; 176 were Weber type B and 128 type C. We were able to review 230 of these patients after a mean follow-up of six years (1 to 11) including 128 with Weber B and 102 with Weber C fractures. We
Rajiv J. Iyengar, BS
Full Text Available Craniosynostosis is the premature fusion of cranial sutures, occurring at a rate of approximately 1 in 2000 live births; it is usually diagnosed and treated within the first year-of-life. Some diagnoses are delayed and only detected later in childhood or adolescence when symptoms of increased intracranial pressure (ICP arise such as headaches and vision changes. We present a case of occult craniosynostosis in which a relatively normocephalic 17-year-old male presented with debilitating headaches, optic nerve edema, and developmental delay consistent with probable ICP elevation. CT scan demonstrated pan-suture craniosynostosis. Invasive monitoring confirmed increased ICP for which he underwent cranial remodeling and expansion. While the functional benefits of cranial remodeling are still vigorously debated, this patient’s headaches resolved postoperatively. Clinicians should be cognizant of cases of occult craniosynostosis, obtain the appropriate preoperative evaluations, and recognize the utility of cranial remodeling in appropriately selected patients.
Fischer, Andrew S; Weathers, William M; Wolfswinkel, Erik M; Bollo, Robert J; Hollier, Larry H; Buchanan, Edward P
Ellis-van Creveld syndrome (EVC) is a rare disorder (the incidence is estimated at around 7/1,000,000) characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac anomalies. Sagittal synostosis is characterized by a dolichocephalic head shape resulting from premature fusion of the sagittal suture. Both are rare disorders, which have never been reported together. We present a case of EVC and sagittal synostosis. We report the clinical features of a Hispanic boy with EVC and sagittal craniosynostosis who underwent cranial vault remodeling. The presentation of this patient is gone over in detail. A never before reported case of EVC and sagittal synostosis is presented in detail.
Bessenyei, Beáta; Nagy, Andrea; Balogh, Erzsébet; Novák, László; Bognár, László; Knegt, Alida C.; Oláh, Eva
We report on a female patient with an exceedingly rare combination of achondroplasia and multiple-suture craniosynostosis. Besides the specific features of achondroplasia, synostosis of the metopic, coronal, lambdoid, and squamosal sutures was found. Series of neurosurgical interventions were
... Hopkins Medicine: Failure to Thrive KidsHealth from Nemours: Failure to Thrive MalaCards: bohring-opitz syndrome Oregon Health Sciences University: Metopic Synostosis Orphanet: Bohring-Opitz syndrome Patient Support ...
Full Text Available H00499 Spondylocarpotarsal synostosis syndrome Spondylocarpotarsal synostosis syndrome is an autosomal recessive disease characterized by the malsegmentation of vertebrae and the fusion of carpal and tarsal bones. Retinal anomalies and hearing loss are also observed. Spondylocarpotarsal synostosis syndrome is due to FLNB mutations. Skeletal dysplasia FLNB (nonsense mutation) [HSA:2317] [KO:K04437] ... MeSH: C535780 OMIM: 272460 PMID:18386804 (description, gene) ... AUTHORS ... Brunetti-Pierri N, Esposito V, De Brasi D, Mattiacci DM, Krakow D, Lee B, Salerno M ... TITLE ... Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations. ... JOURNAL ... Am J Med Genet A 146A:1230-3 (2008) DOI:10.1002/ajmg.a.32303 ...
Borromei, A; Caramelli, R; Guerra, L; Lozito, A; Yacoby, Y
On average 0.04% of the population is affected by craniostenosis. It is believed there are anatomo-clinical forms at moderate risk and others at high risk. The neurosurgical indications are very different according to various Authors. The forms at high risk which are caused by an isolated synostosis of the coronal system with brachicephalia are either associated to other synostosis (oxicephalia) or to facial synostosis should always be operated, with various techniques, within the first 6 months of life. Basing on the experience of 3 cases of craniostenosis, deliberately not operated on, followed and controlled for over 20 years from the decision of not to operate, all in excellent general condition both neurological and psychiatric, the Authors consider and discuss the criteria of surgical indications with particular regard to clinical objectivity (implicity disregarding a precise value of the craniometric data).
Complications were marked by 14 superficial infections (14 cases), osteitis associated with material (2 cases), refracture (3 cases), pseudarthrosis (3 cases), delayed fracture consolidation (2 cases) and proximal radioulnar synostosis (1 case). Although intramedullary nailing ideally is an osteosynthesis technique suitable ...
Keller, Mette Kirstine; Hermann, Nuno V; Darvann, Tron A
a computed tomography (CT)-verified synostosis of the coronal suture. The patients were either placed into the "Muenke" group (n=11) or the "non-Muenke" control group (n=12) on the basis of a test for the P250R mutation in the FGFR3 gene. On the basis of CT scans, a three-dimensional surface model...
Full Text Available The Antley-Bixler syndrome is a rare multiple congenital anomaly with a high mortality rate. The characteristic manifestations include craniosynostosis, radiohumeral synostosis, midface hypoplasia, joint contractures and arachnodactyly. We report two new cases of this syndrome and address the diagnostic features, associated malformations, inheritance patterns, prenatal findings, and briefly review the literature.
Rodriguez-Florez, N. (Naiara); Göktekin, Ö.K. (Özge K.); Bruse, J.L. (Jan L.); Borghi, A. (Alessandro); F. Angullia (Freida); Knoops, P.G.M. (Paul G.M.); Tenhagen, M. (Maik); O'Hara, J.L. (Justine L.); M.J. Koudstaal (Maarten); Schievano, S. (Silvia); Jeelani, N.U.O. (N.U. Owase); James, G. (Greg); D.J. Dunaway (David)
textabstractTrigonocephaly in patients with metopic synostosis is corrected by fronto-orbital remodelling (FOR). The aim of this study was to quantitatively assess aesthetic outcomes of FOR by capturing 3D forehead scans of metopic patients pre- and post-operatively and comparing them with controls.
... National Institute of Child Health and Human Development; Notice of Closed Meeting Pursuant to section 10(d... Institute of Child Health and Human Development Special Emphasis Panel Craniofacial Synostosis: Critical... Scientific Review, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, 6100...
Calandrelli, Rosalinda; D' Apolito, Gabriella; Gaudino, Simona; Stefanetti, Mariangela; Colosimo, Cesare [Universita Cattolica Sacro Cuore, Institute of Radiology, Rome (Italy); Massimi, Luca; Di Rocco, Concezio [Universita Cattolica Sacro Cuore, Institute of Neurosurgery, Rome (Italy)
This study aims to identify the premature synostosis of ''major'' and ''minor'' sutures of the four ''sutural arches'' of the skull and to perform a morphometric analysis in children with syndromic craniosynostosis in order to evaluate changes in the skull base linked with premature suture synostosis. We reviewed multiplanar high-resolution CT images, implemented with 3D reconstructions, from 18 patients with complex syndromic craniosynostosis and compared them with 18 age-matched healthy subjects. We assessed the calvarial sutures and their extension to the skull base, and then we correlated specific types of synostosis with the size, shape and symmetry of the cranial fossae. We found a marked asymmetry of the skull base growth in all patients. The synostotic involvement around the coronal ring caused a reduction in the growth of the anterior and middle fossae. The size of the posterior cranial fossa was related not only to ''major'' but also to ''minor'' suture synostosis of the lambdoid and parieto-squamosal arches. Changes in the skull base and craniofacial axis symmetry are due to structural and functional relationships between ''major'' and ''minor'' skull sutures, suggesting a structural and functional relationship between the neurocranium and basicranium. The early recognition of prematurely closed skull base sutures may help clinicians and neurosurgeons to establish correct therapeutic approaches. (orig.)
Background: Vascularized fibular grafting, free fibular graft, tibia profibula synostosis, amputation with a good prosthesis and Ilizarov technique are some of the suitable options for managing bone gaps that result from trauma or treatment of tumours, bone infection, congenital pseudoarthrosis and repeated failed ...
purposes. The basis for most of the applications is non-rigid image registration. This approach brings one image into the coordinate system of another resulting in a deformation field describing the anatomical correspondence between the two images. A computational atlas representing the average anatomy...... of asymmetry. The analyses are applied to the study of three different craniofacial anomalies. The craniofacial applications include studies of Crouzon syndrome (in mice), unicoronal synostosis plagiocephaly and deformational plagiocephaly. Using the proposed methods, the thesis reveals novel findings about...... the craniofacial morphology and asymmetry of Crouzon mice. Moreover, a method to plan and evaluate treatment of children with deformational plagiocephaly, based on asymmetry assessment, is established. Finally, asymmetry in children with unicoronal synostosis is automatically assessed, confirming previous results...
prosthesis together with levels of comfort and satisfaction; and 2) compare rates of re-hospitalizations for complications, resource utilization...and overall treatment costs for patients undergoing a below the knee amputation who are randomized to receive an end-bearing tibia-fibula synostosis...trauma; Grade III fractures; pelvic and acetabular fractures, knee joint fractures and knee dislocations. Sample size: 500 (250 per arm). Number of study
Gracia, Ana; Martínez-Lage, Juan F; Arsuaga, Juan-Luis; Martínez, Ignacio; Lorenzo, Carlos; Pérez-Espejo, Miguel-Angel
The authors report the morphological and neuroimaging findings of an immature human fossil (Cranium 14) diagnosed with left lambdoid synostosis. The skull was recovered at the Sima de los Huesos site in Atapuerca (Burgos, Spain). Since the human fossil remains from this site have been dated to a minimum age of 530,000 years, this skull represents the earliest evidence of craniosynostosis occurring in a hominid. A brief historical review of craniosynostosis and cranial deformation is provided.
Fernandez Rodríguez, A.; Ramos Rangel, O. J.; Fernández Palazzi, F.
Se presenta aparentemente el primer caso en la literatura mundial de Sinostosis Húmero-Radio-Cubital unilateral, no asociado a ninguna entidad patológica congénita, observando un crecimiento y desarrollo del resto del organismo dentro de parámetros normales. Siendo este un miembro superior funcional se decide no aplicar ningún tratamiento. We report the first case in the world's literature of unilateral Húmero-Radio-Ulnar Synostosis, not associated to other congenital pathology...
Kaissi, Ali Al; Pospischill, Renata; Grill, Franz; Ganger, Rudolf
We describe a constellation of distinctive skeletal abnormalities in an 8-year-old boy who presented with the full clinical criteria of oro-facial-digital (OFD) type II (Mohr syndrome): bony changes of obtuse mandibular angle, bimanual hexadactyly and unilateral synostosis of the metacarpo-phalanges of 3-4, bilateral coxa valga associated with moderate hip subluxation, over-tubulation of the long bones, vertical talus of the left foot and talipes equinovarus of the right foot respectively. In...
Ropper, Alexander E; Rogers, Gary F; Ridgway, Emily B; Proctor, Mark R
The authors report the case of a large idiopathic frontal bone defect and concomitant sagittal synostosis corrected by autologous exchange cranioplasty by using a corticocancellous bone graft and cranial vault expansion. An otherwise healthy, developmentally normal 6-year-old girl presented to our clinic with a large frontal bone defect. The osseous defect was midline and inferior to the coronal sutures, and the underlying dura was slightly tense. She had no signs or symptoms of increased intracranial pressure, and her head circumference and cephalic index were normal. Imaging demonstrated fusion of the sagittal synostosis. The defect was repaired using full-thickness autologous bone harvested from the bilateral parietal regions, which were widened using barrel-stave osteotomies to reduce pressure on the graft site in the setting of sagittal synostosis and mild cranial narrowing. The donor sites were covered with autologous particulate bone graft harvested from the endocortical surface of the grafted segments and the ectocortical surface of the intact parietal bones. The donor and recipient sites healed. Imaging revealed that the particulate bone healed with a thickness similar to the surrounding bone. This bony defect is analogous to parietal foramina and may have a similar etiopathogenesis. The technique of autologous exchange cranioplasty using corticocancellous particulate bone graft provides a simple and reliable method to repair large structural calvarial defects.
Swanson, Jordan; Oppenheimer, Adam; Al-Mufarrej, Faisal; Pet, Mitchell; Arakawa, Chris; Cunningham, Michael; Gruss, Joseph; Hopper, Richard; Birgfeld, Craig
Premature cranial suture fusion may prevent neonatal skull malleability during birth, increasing the risk of unplanned cesarean delivery and neonatal birth trauma caused by cephalopelvic disproportion. We sought to determine the incidence of perinatal maternofetal complications in cases of craniosynostosis. Records of children presenting with nonsyndromic craniosynostosis to a tertiary pediatric hospital from 1996 to 2012 were reviewed retrospectively with focus on birth history and birth-related complications. Six hundred eighteen births were reviewed. Rates of cesarean delivery among mothers of children with craniosynostosis [n = 201 (32.5 percent)] exceeded the overall regional rate of 24.5 percent (OR, 1.50; p delivery occurred in 19.7 percent of births, and were most associated with nulliparous mothers, breech fetal presentations, and lambdoid or multisuture synostosis patterns. Eleven neonates (1.8 percent) exhibited cranial birth trauma, including cephalohematoma and subgaleal hematoma. Neonates with sagittal or multisuture synostosis patterns were more likely to suffer birth trauma and had a higher mean head circumference than those who did not (81st versus 66th percentile, p birth trauma is increased-for mothers in the form of increased cesarean delivery risk, and for fetuses in the form of subgaleal and subperiosteal perinatal bleeding. Difficult maternal labor may be mediated especially by multisuture or lambdoid synostosis, whereas fetal birth trauma may be mediated to a greater extent by large head size. Prenatal diagnosis of craniosynostosis could influence decision-making in the management of labor. Risk, IV.
Korpilahti, Pirjo; Saarinen, Pia; Hukki, Jyri
This study examined early language acquisition in children with single suture craniosynostosis (SSC) and in children with deformational posterior plagiocephaly. Our purpose was to determine whether infants with SSC have normal language acquisition at the age of 3 years, and whether infants with deformational posterior plagiocephaly demonstrate parallel development when compared with children with SSC. The study population includes 61 infants. Twenty of them had synostosis of the sagittal suture, 12 synostosis of other suture and 29 deformational posterior plagiocephaly. Forty-nine of them were operated on a mean age of 10.6 months, and 12 were non-operated children with deformational posterior plagiocephaly. Language skills of participants were prospectively evaluated at the mean age of 3 years 4 months. About one half of the subjects (49%) had normal linguistic development, 30% had slight developmental problems and 21% had severe disorders in speech-language-related skills. These figures showed the prevalence of severe language disorders to be three times higher in our study population when compared with the general population. Children with sagittal synostosis managed better in all language skills compared with other types of SSC. Defective language development was found in deformational posterior plagiocephaly, both operated and non-operated. We found a noticeable developmental risk for specific language impairment in children with nonsyndromic SSC, and that the deviant language development is observable already in early infancy. Contrary to previous beliefs, the developmental risk for defective language development in deformational posterior plagiocephaly was found in both operated and non-operated subjects.
DeLeon, V B; Zumpano, M P; Richtsmeier, J T
Isolated sagittal craniosynostosis produces a scaphocephalic neurocranium associated with abnormal basicranial morphology, providing additional evidence of the developmental relationship of the neurocranium and basicranium. Corrective surgical procedures vary, but the immediate impact of the surgical procedure is restricted to the neurocranium. This study addresses the secondary effects of neurocranial surgery on the cranial base. Three-dimensional (3-D) computed tomography (CT) scans were obtained for preoperative (n = 25) and postoperative (n = 12) patients with isolated sagittal synostosis. Landmark data from 14 landmarks on and around the cranial base were collected from 3-D CT reconstructions and analyzed using Euclidean distance matrix analysis. Subsamples of age-matched patients were used to identify basicranial differences in pre- and postoperative patients and to compare postoperative growth patterns identified in longitudinal data with preoperative growth patterns characterized in cross-sectional data. Statistically significant differences (p asterion, and left asterion are similar in preoperative and postoperative patients. However, the position of these landmarks relative to the cranial base is different in the two groups, being positioned relatively more anteriorly in postoperative patients. In addition, we found that the cranial base angle, on average, neither increases nor decreases in the first postoperative year. These morphological differences are associated with divergent growth trajectories in the operated and unoperated cranial base. Regardless of specific procedure, neurocranial surgery in sagittal synostosis patients affects growth patterns of the cranial base. The lack of change in the postoperative cranial base angle suggests that neurocranial surgery alleviates the occipital rotation and decreased cranial base angle described in the sagittal synostosis basicranium.
Darvann, T. A.; Hermann, N. V.; Larsen, P.
We present an automated method of spatially detailed 3D asymmetry quantification in mandibles extracted from CT and apply it to a population of infants with unilateral coronal synostosis (UCS). An atlas-based method employing non-rigid registration of surfaces is used for determining deformation ...... after mirroring the mandible across the MSP. A principal components analysis of asymmetry characterizes the major types of asymmetry in the population, and successfully separates the asymmetric UCS mandibles from a number of less asymmetric mandibles from a control population....
Christensen, Leif; Østergaard, John R; Nørholt, Sven Erik
AND METHODS: This is a retrospective registration of 133 children with positional plagiocephaly seen in the period from 1994 to 2000. RESULTS: The number of children with positional plagiocephaly increased from two in 1994 to a maximum of 43 in 1999. 83 were males and 50 were females. 84 were dextral and 49...... were sinistral. In seven (14%) of the sinistral and three (4%) of the dextral, we found a physical explanation of the head turning. In 51 children, X-rays of the skull were performed, but no synostosis was found. DISCUSSION: The back-sleeping position of infants is a promotive factor to positional...
Kubota, Wataru; Sudo, Nariomi; Nakazima, Kiyonori; Nakamura, Mitsutaka
Eight children with spondylolysis, aged from 10 to 18 years of age, underwent bone scanning with technetium-99m methylene diphosphonic acid. Radioisotope (RI) uptake was significantly observed in the site marked by the separation of the pars interarticularis, compared with the other sites between the articular processes. This showed the increase in metabolic activity of bones, providing supplementary information in the initial diagnosis. At the completion of conservative treatment, RI uptake decreased, being seemingly attributable to the improvement of subjective symptoms. Bone scanning may, however, be unhelpful in detecting synostosis. (Namekawa, K.)
Kubota, W.; Sudo, N.; Nakazima, K.; Nakamura, M.
Eight children with spondylolysis, aged from 10 to 18 years of age, underwent bone scanning with technetium-99m methylene diphosphonic acid. Radioisotope (RI) uptake was significantly observed in the site marked by the separation of the pars interarticularis, compared with the other sites between the articular processes. This showed the increase in metabolic activity of bones, providing supplementary information in the initial diagnosis. At the completion of conservative treatment, RI uptake decreased, being seemingly attributable to the improvement of subjective symptoms. Bone scanning may, however, be unhelpful in detecting synostosis.
Regelsberger, Jan; Schmidt, Tobias; Busse, Björn; Herzen, Julia; Tsokos, Michael; Amling, Michael; Beckmann, Felix
Both CT and high-frequency ultrasound have been shown to be reliable diagnostic tools used to differentiate normal cranial sutures from suture synostosis. In nonsynostotic plagiocephaly, overlapping of the bony plates and the so-called "sticky suture" is still controversial and is believed to represent a pathological fusion process. Synchrotron-microcomputed tomography (SRmCT) studies were undertaken to determine whether positional head deformities can be assumed to be true suture pathologies. Morphological features and growth development of 6 normal cranial sutures between the ages of 3 and 12 months were analyzed histologically. Additionally 6 pathological sutures, including sagittal synostosis and nonsynostotic plagiocephaly (NSP), were compared with the group of normal sutures by histological and SRmCT studies. Synchrotron-microcomputed tomography is a special synchrotron radiation source with a high photon flux providing a monochromatic x-ray beam with a very high spatial resolution. Morphological characteristics of the different suture types were evaluated and bone density alongside the sutures was measured to compare the osseous structure of the adjacent bony plates of normal and pathological sutures. Histologically jointlike osseous edges of the normal sutures were seen in the 1st month of life and interlocking at the age of approximately 12 months. During this 1st year, bone thickness increases and suture width decreases. The SRmCT studies showed that: 1) sutures and adjacent bones in NSP are comparable to normal sutures in terms of their morphological aspects; 2) bone densities in the adjacent bony plates of NSP and normal sutures are not different; 3) thickening of the diploe with ridging of the bone in sagittal synostosis is associated with significantly higher bone density; 4) synostotic sutures are only partially fused but vary in their extent; and 5) nonfused sections in sagittal synostosis behave like normal sutures without any signs of pathological
Haq, E. U.; Aman, S.; Tammimy, M. S.; Ahmad, R. S.
Objective: To describe the results of fronto-orbital advancement and remodelling for craniosynostosis in children. Study Design: Case series. Place and Duration of Study: Department of Plastic Surgery, Combined Military Hospital, Rawalpindi, from June 2009 to June 2012. Methodology: All the patients with cranial suture synostosis operated were included in the study. Those patients who were lost to follow-up were excluded. Variables considered were age, gender, type of synostosis, intracranial pressure, and history of previous surgeries for the same problem. Outcome measures were studied in terms of improvement of skull measurements (anteroposterior and bicoronal), duration of surgery, hospital stay, blood transfusions, complications and parents satisfaction. Results: A total of 36 patients were included in the study. Male to female ratio was 3:1. The age ranged from 5 to 54 months. Thirty two patients presented with non-syndromic and four with syndromic craniosynostosis. Fronto orbital advancement and total calvarial remodelling was done in 26 and 10 patients respectively. There was improvement in the skull measurements and the parents were satisfied in all cases with the skull shape. Complications occurred in 11.1% including chest and wound infection and one death. Conclusion: Fronto-orbital advancement and remodelling is an effective procedure for the correction of craniosynostosis, however, individual cases may require other procedures like total calvarial remodelling. (author)
Collett, Brent R; Gray, Kristen E; Kapp-Simon, Kathleen A; Birgfeld, Craig; Cunningham, Michael; Rudo-Stern, Jenna; Ung, Danielle; Buono, Lauren; Speltz, Matthew L
Single-suture craniosynostosis (SSC) results in head shape anomalies that likely affect social perceptions of appearance. The purpose of this study was to evaluate laypersons' ratings of attractiveness in children with and without SSC. Among cases, we also examined differences by suture fused and age at surgery. We collected photographs of 196 children with SSC and 186 children without SSC as infants (before surgery, for cases) and at ages 18 and 36 months. Photographs were rated by 8 raters, who were blinded to the population being studied. We used linear regression to compare appearance ratings for the 2 groups at each visit and to evaluate changes over time. Regression analyses were used to examine the association between age at surgery and appearance ratings. Children with SSC received lower appearance ratings than unaffected controls at each visit (all P Appearance ratings decreased over time, with a similar trajectory for children with and without SSC. Among cases, those with unicoronal and lambdoid synostosis had the lowest ratings and those with sagittal synostosis had the highest. Age at surgery was inversely associated with appearance ratings. Children with SSC received lower appearance ratings than unaffected controls, with minimal change after surgery. Better outcomes were associated with earlier surgery. These findings do not indicate that children with SSC failed to benefit from surgery, as without surgical intervention, asymmetrical head shape would likely have worsened over time. However, our data suggest that appearance does not fully "normalize."
Jehee, Fernanda Sarquis; Alonso, Luis G; Cavalcanti, Denise P; Kim, Chong; Wall, Steven A; Mulliken, John B; Sun, Miao; Jabs, Ethylin Wang; Boyadjiev, Simeon A; Wilkie, Andrew O M; Passos-Bueno, Maria Rita
Screen the known craniosynostotic related gene, FGFR1 (exon 7), and two new identified potential candidates, CER1 and CDON, in patients with syndromic and nonsyndromic metopic craniosynostosis to determine if they might be causative genes. Using single-strand conformational polymorphisms (SSCPs), denaturing high-performance liquid chromatography, and/or direct sequencing, we analyzed a total of 81 patients for FGFR1 (exon 7), 70 for CER1, and 44 for CDON. Patients were ascertained in the Centro de Estudos do Genoma Humano in São Paulo, Brazil (n = 39), the Craniofacial Unit, Oxford, U.K. (n = 23), and the Johns Hopkins University, Baltimore, Maryland (n = 31). Clinical inclusion criteria included a triangular head and/or forehead, with or without a metopic ridge, and a radiographic documentation of metopic synostosis. Both syndromic and nonsyndromic patients were studied. No sequence alterations were found for FGFR1 (exon 7). Different patterns of SSCP migration for CER1 compatible with the segregation of single nucleotide polymorphisms reported in the region were identified. Seventeen sequence alterations were detected in the coding region of CDON, seven of which are new, but segregation analysis in parents and homology studies did not indicate a pathological role. FGFR1 (exon 7), CER1, and CDON are not related to trigonocephaly in our sample and should not be considered as causative genes for metopic synostosis. Screening of FGFR1 (exon 7) for diagnostic purposes should not be performed in trigonocephalic patients.
Netherway, D J; Abbott, A H; Gulamhuseinwala, N; McGlaughlin, K L; Anderson, P J; Townsend, G C; David, D J
To investigate facial asymmetry associated with both deformational and synostotic plagiocephaly and to identify variables based on skeletal landmarks that distinguish the conditions and quantify severity. Retrospective, cross sectional. Australian Craniofacial Unit, Adelaide. Proportional differences between bilateral distances and principal component (PC) analysis of the skeletal landmarks. The three-dimensional positions of 78 osseous landmarks were determined from computed tomography (CT) scans of 21 patients with deformational plagiocephaly (DP), 20 patients with unilateral coronal synostosis (UCS), and 2 patients with unilateral lambdoid synostosis (ULS). For both DP and UCS, significant asymmetry was found for the orbital depths, mandibular lengths, maxillary depths, zygomatic arch lengths, lateral base of the parietal bone, and the angle between the anterior and the posterior cranial base projected onto the axial plane. The small sample size for ULS precluded definitive statistical statements but allowed some useful comparisons with the other conditions. The first three PC scores were able to distinguish among the three conditions and which side was affected. The asymmetry of the cranial base and facial structures, arising from localized abnormality or deformational forces in either the frontal or the occipital regions, can be quantified by a plethora of bilateral features or summarized by PC analysis.
Kim, Seong Hyun; Ahn, Joong Mo; Lee, Min Hee; Yoon, Hye Kyung; Kim, Sung Moon; Shin, Myung Jin; Kang, Heung Sik
To assess the usefulness of the talocalcaneal C sign in the diagnosis of subtalar coalition, as seen on lateral radiographs of the ankle. Lateral radiographs of 12 ankles in 11 patients were included in this study. Twelve subtalar coalitions were confirmed by surgery (n=6), or by CT and/or MR (n=6). The presence of the talocalcaneal C sign on lateral ankle radiographs was determined. The C sign was continuous in six feet and interrupted in the remaining six. Subtalar coalition occurred simultaneously inthe middle and posterior subtalar joints in two cases, the posterior subtalar joint only in six, and in the middle subtalar joint only in four. In six cases confirmed at surgery, subtalar coalitions consisted of both synostosis and non-osseous fusion (synchondrosis and/or syndesmosis) and in one case of middle subtalar coalition, there was a bony bridge. The remaining six cases. confirmed at CT or MRI, involved both synostosis and non-osseous fusion (n=1) or non-osseous fusion only (n=5). In the diagnosis of subtalar coalition, the talocalcaneal C sign, seen on lateral radiographs of the ankle, is a useful indicator
Kapetanakis, Stylianos; Gkasdaris, Grigorios; Pavlidis, Pavlos; Givissis, Panagiotis
Sacrum is a triangular bone placed in the base of the spine and formed by the synostosis of five sacral vertebrae (S1-S5). Its upper part is connected with the inferior surface of the body of L5 vertebra forming the lumbosacral joint, while its lower part is connected with the base of the coccyx forming the sacrococcygeal symphysis, an amphiarthrodial joint. The existence of four pairs of sacral foramen in both anterior and posterior surface of the sacrum is the most common anatomy. Nevertheless, supernumerary sacral foramina are possible to be created by the synostosis of lumbosacral joint or sacrococcygeal symphysis. We present a case of an osseous cadaveric specimen of the sacrum belonging to a 79-year-old Caucasian woman. A rare variation of the anatomy of the sacrum is reported; in which, the simultaneous fusion of the sacrum with both the L5 vertebra and the coccyx has created six pairs of sacral foramen. This variation should be taken into serious consideration, especially in the domain of radiology, neurosurgery, orthopaedics and spine surgery, because low back pain, coccygodynia and other neurological symptoms may emerge due to mechanical compression.
Barone, C M; Marion, R; Shanske, A; Argamaso, R V; Shprintzen, R J
Presented are 2 patients with abnormal craniofacial region, limbs, and abdomen, features that may be consistent with Pfeiffer syndrome, type 3. Both patients had bicoronal and bisphenoidal synostosis, extreme exophthalmic midface hypoplasia, and hydrocephalus. The limbs had a fixed flexion deformity of the elbows with broad thumbs which were radiopalmarly deviated; the toes were broad with a varus deformity and syndactyly toes 2-5. Both patients developed bowel obstruction secondary to midgut malrotation, and one of the patients had prune belly syndrome. Review of the literature disclosed an additional patient who, in retrospect, had Pfeiffer syndrome type 3 and midgut malrotation. These patients suggest that intestinal malrotation with or without prune belly syndrome may be a common component of this entity.
Omran, H.; Hildebrandt, F.; Brandis, M. [Freiburg Univ. (Germany)] [and others
We report on a patient with trigonocephaly, biparietal widening as a result of metopic synostosis, strabismus, upslanted palpebral fissures, apparently low-set ears with abnormal helices, deeply furrowed palate, postaxial polysyndactyly of the feet, ankle flexion deformities, cryptorchidism, loose skin, and severe mental retardation, findings compatible with a diagnosis of the Opitz trigonocephaly C syndrome (OTS). At the age of 12 years this patient presented with symptoms of raised intracranial pressure. A biopsy showed findings diagnostic of a medulloblastoma WHO Grade IV, an unprecedented finding in OTS. The possibility of coincidence should not prevent continued surveillance of OTS patients in the future for the occurrence of malignancy. 33 refs., 4 figs., 1 tab.
Nadeem A Lil
Full Text Available The aim of the study was to evaluate results of closed intramedullary nailing using Talwarkar square nails in adult forearm fractures. We prospectively evaluated 34 patients with both bone forearm fractures. The average time to union was 12.8 (SD +3.2 weeks with cast support for a mean of 8.2 weeks. Union was achieved in 31 out of 34 patients. Using the Grace and Eversmann rating system, 17 patients were excellent, 10 were good, and 4 had an acceptable result. Three patients had non-unions, 2 for the radius and one for the ulna. There were two cases of superficial infection, one subject had olecranon bursitis, and one case of radio-ulnar synostosis. Complication rates associated with the use of square nails were lower compared to plate osteosynthesis and locked intramedullary nails. To control rotation post- operatively, there is a need for application of an above-elbow cast after nailing.
Arsenev, A; Dudin, M; Lednev, V; Belova, N; Mikhailov, V; Sokolov, G
The study has been performed to investigate the influence of pulsed magnetic field on the bone growth plates to get new grounds of magneto therapy in AIS treatment. Were used methods of "strong" and "weak" pulsed magnetic fields influence. Application of pulsed magnetic field causes an authentic inhibition of chondrocytes' active proliferation processes, decreases the index of labeled nuclei, indicating the suppression of DNA synthesis, takes place an increase in the unit weight of the more "mature" differentiated chondrocytes. The final result of these effects is the accelerated synostosis of bones' growth plates. Regardless of the reasons that cause growth infringements, the operating organ in the chain is the body's growth plate. Therefore, the appliance of magnetic fields in AIS treatment can be considered as a perspective one concerning growth plates' functional activity local management. To our point of view, the potential of magneto therapy methods in child's orthopedic treatment is significantly higher compared with modern practice.
Bessenyei, Beáta; Nagy, Andrea; Balogh, Erzsébet; Novák, László; Bognár, László; Knegt, Alida C; Oláh, Eva
We report on a female patient with an exceedingly rare combination of achondroplasia and multiple-suture craniosynostosis. Besides the specific features of achondroplasia, synostosis of the metopic, coronal, lambdoid, and squamosal sutures was found. Series of neurosurgical interventions were carried out, principally for acrocephaly and posterior plagiocephaly. The most common achondroplasia mutation, a p.Gly380Arg in the fibroblast growth factor receptor 3 (FGFR3) gene, was detected. Cytogenetic and array CGH analyses, as well as molecular genetic testing of FGFR1, 2, 3 and TWIST1 genes failed to identify any additional genetic alteration. It is suggested that this unusual phenotype is a result of variable expressivity of the common achondroplasia mutation. Copyright © 2013 Wiley Periodicals, Inc.
Eduardo Alfredo Duro
Full Text Available Congenital syngnathia is a rare malformation. The synechia or synostosis of the maxilla and the mandible may be partial or complete and also be associated with other malformations. The syngnathia can be developed between the upper and lower alveolar ridges with a wide spectrum and range of severity documented in case reports. The authors report a newborn with complete syngnathia and discuss the management during the first days of life. Our goal is to help attending physicians understand anatomic and functional implications of syngnathia, and become familiar with strategies used in the early caring of a newborn with congenital syngnathia. Literature reveals results of different patients with poorly documented follow-up and different management. The priority is a safe airway and early nutrition with human milk to avoid the risk of aspiration pneumonia, malnutrition, and poor growth.
Bołtuć, Witold; Golec, Edward
The paper presents the results of treatment of tibial shaft fracture related to the method of intramedullary union with or without reaming of the marrow cavity. The clinical material was obtained from the traumatic-orthopaedic surgery department and rehabilitation department of the County Hospital in Dabrowa Tarnowska. A group of 128 patients treated with intramedullary blocking stabilization was evaluated. The clinical, radiological and functional indicators were assessed. The results of the study showed that the method of surgical union of tibial shaft fracture with the reaming of the marrow cavity was more favourable with regard to the assessed clinical and radiological parameters, complications concerning synostosis, infections and deviations of the long axis. The functional results were dependent, to a large degree, on the patients' age, and to some degree on the adopted operational technique.
Juliana F. Mazzeu
Full Text Available Chromosomal rearrangements involving partial deletion of the short arm of chromosome 4 and partial duplication of the short arm of chromosome 8 have been described both in Pitt-Rogers-Danks syndrome (PRDS and Wolf-Hirschhorn syndrome (WHS, the former being considered a milder phenotype of the latter. We describe a patient with partial deletion of chromosome 4 and partial duplication of chromosome 8 documented by array-comparative genomic hybridization (Array-CGH. In addition to the typical features of PRDS, the patient exhibited some clinical signs (genital hypoplasia, radioulnar synostosis and mesomelic limb shortness infrequently, or never previously, reported in PRDS. These findings broaden the spectrum of anomalies generally associated with these syndromes.
Full Text Available Crouzon′s syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon′s syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2 gene. Normally, the sutures in the human skull fuse after the complete growth of the brain, but if any of these sutures close early then it may interfere with the growth of the brain. The disease is characterized by premature synostosis of coronal and sagittal sutures which begins in the first year of life. Case report of a 7 year old boy is presented with characteristic features of Crouzon′s syndrome with mental retardation. The clinical, radiographic features along with the complete oral rehabilitation done under general anesthesia and preventive procedures done are described.
Gilson, S.D.; Piermattei, D.L.; Schwarz, P.D.
Humeroulnar subluxation was treated surgically in 13 dogs with 18 affected elbows using a proximal osteotomy of the ulna that allowed the ulna to elongate dynamically. Distal humeroulnar subluxation was secondary to premature closure of the distal ulnar physis in 16 elbows. One distal subluxation was secondary to a radioulnar synostosis, and one proximal subluxation developed after premature closure of the distal radial physis. The mean follow-up time was 22 months. Twenty-eight percent of the elbows were judged to have excellent results, 22% good results, 50% fair results, and none was judged to have a poor outcome. The presenting lameness grade and the severity of preoperative and postoperative humeroulnar subluxation had significant correlations with the prognosis. Associated orthopedic abnormalities and complications of concurrent surgical procedures affected the outcome in several dogs. Overall, the dynamic proximal ulnar osteotomy was a simple and effective technique for the treatment of uncomplicated humeroulnar subluxation
Full Text Available Apert syndrome is named for the French physician, Eugen Apert who was, in 1906. described anomalous shape of the skull with coronary suture synostosis and hypoplasia sphenoethmoidmaxillary part of the face and fingers syndactyly of hands and feet. Apert syndrome accounts for about 4,5% of all craniosynostosis. With the prevalence of 1:160 000-200 000, inherited in an autosomal dominant, and in 25% of cases are fresh mutations in the gene. This syndrome has no predilection by gender and race, varies in severity form in witch it is manifested. Anomality of internal organs are very rare, but half of the patients with this syndrome have mental retardation. Apert syndrome has no cure, but surgery can help to correct some of the problems.
Ou Yang, O; Marucci, D D; Gates, R J; Rahman, M; Hunt, J; Gianoutsos, M P; Walsh, W R
Spring-assisted cranioplasty (SAC) has become an accepted treatment for patients with sagittal craniosynostosis; however, the early effects of springs on skull dimensions have never been assessed with objective measurements in the literature. The present study evaluated the changes in skull dimensions and intracranial volume (ICV) during the first 3 months after SAC for sagittal synostosis. Sixteen patients with sagittal synostosis underwent SAC. The cephalic index (CI) and the distance between the spring foot plates were chronologically measured until spring removal at 3 months. Pre- and post-treatment CT scans available for 6 patients were used to assess changes in head shape. Thirteen patients underwent objective aesthetic assessment using pre- and post-operative photographs. Statistical analysis was performed using the linear mixed model for chronological data, t-test statistics for normative data comparisons and Wilcoxon's signed rank test for non-parametric data. For scaphocephalic patients, pre-operative and post-operative CIs were 0.70 and 0.74 (p = 0.001), respectively. Cranial widening towards normative values was observed (p = 0.0005). A continuous expansion in the distance between the spring foot plates was observed over the treatment period. Frontal and occipital angles were not affected by SAC despite apparent clinical improvements in frontal bossing and occipital prominence. CT analysis demonstrated relative reduction in the anterior cranial volume (p = 0.01) and relative expansion of the superior occipital volume (p = 0.03). Spring expansion was most marked in the hours following spring insertion. The expansion rate reduced to the minimum by day 1 post-operatively. Clinical benefits of SAC resulted from an increase in the bi-temporal width that camouflaged the frontal bossing. Improvement in occipital prominence was due to superior occipital volume expansion, allowing the occiput to remodel to a more rounded shape. Crown Copyright © 2017
Rodriguez-Florez, Naiara; Bruse, Jan L; Borghi, Alessandro; Vercruysse, Herman; Ong, Juling; James, Greg; Pennec, Xavier; Dunaway, David J; Jeelani, N U Owase; Schievano, Silvia
Spring-assisted cranioplasty is performed to correct the long and narrow head shape of children with sagittal synostosis. Such corrective surgery involves osteotomies and the placement of spring-like distractors, which gradually expand to widen the skull until removal about 4 months later. Due to its dynamic nature, associations between surgical parameters and post-operative 3D head shape features are difficult to comprehend. The current study aimed at applying population-based statistical shape modelling to gain insight into how the choice of surgical parameters such as craniotomy size and spring positioning affects post-surgical head shape. Twenty consecutive patients with sagittal synostosis who underwent spring-assisted cranioplasty at Great Ormond Street Hospital for Children (London, UK) were prospectively recruited. Using a nonparametric statistical modelling technique based on mathematical currents, a 3D head shape template was computed from surface head scans of sagittal patients after spring removal. Partial least squares (PLS) regression was employed to quantify and visualise trends of localised head shape changes associated with the surgical parameters recorded during spring insertion: anterior-posterior and lateral craniotomy dimensions, anterior spring position and distance between anterior and posterior springs. Bivariate correlations between surgical parameters and corresponding PLS shape vectors demonstrated that anterior-posterior (Pearson's [Formula: see text]) and lateral craniotomy dimensions (Spearman's [Formula: see text]), as well as the position of the anterior spring ([Formula: see text]) and the distance between both springs ([Formula: see text]) on average had significant effects on head shapes at the time of spring removal. Such effects were visualised on 3D models. Population-based analysis of 3D post-operative medical images via computational statistical modelling tools allowed for detection of novel associations between surgical
Capitan, Aurélien; Grohs, Cécile; Weiss, Bernard; Rossignol, Marie-Noëlle; Reversé, Patrick; Eggen, André
The developmental pathways involved in horn development are complex and still poorly understood. Here we report the description of a new dominant inherited syndrome in the bovine Charolais breed that we have named type 2 scurs. Clinical examination revealed that, despite a strong phenotypic variability, all affected individuals show both horn abnormalities similar to classical scurs phenotype and skull interfrontal suture synostosis. Based on a genome-wide linkage analysis using Illumina BovineSNP50 BeadChip genotyping data from 57 half-sib and full-sib progeny, this locus was mapped to a 1.7 Mb interval on bovine chromosome 4. Within this region, the TWIST1 gene encoding a transcription factor was considered as a strong candidate gene since its haploinsufficiency is responsible for the human Saethre-Chotzen syndrome, characterized by skull coronal suture synostosis. Sequencing of the TWIST1 gene identified a c.148_157dup (p.A56RfsX87) frame-shift mutation predicted to completely inactivate this gene. Genotyping 17 scurred and 20 horned founders of our pedigree as well as 48 unrelated horned controls revealed a perfect association between this mutation and the type 2 scurs phenotype. Subsequent genotyping of 32 individuals born from heterozygous parents showed that homozygous mutated progeny are completely absent, which is consistent with the embryonic lethality reported in Drosophila and mouse suffering from TWIST1 complete insufficiency. Finally, data from previous studies on model species and a fine description of type 2 scurs symptoms allowed us to propose different mechanisms to explain the features of this syndrome. In conclusion, this first report on the identification of a potential causal mutation affecting horn development in cattle offers a unique opportunity to better understand horn ontogenesis. PMID:21814570
Calandrelli, Rosalinda; Panfili, Marco; D' Apolito, Gabriella; Pedicelli, Alessandro; Colosimo, Cesare [Fondazione Policlinico Universitario Agostino Gemelli, Univ. Cattolica del Sacro Cuore, Area Diagnostica per Immagini, Roma (Italy); Zampino, Giuseppe [Fondazione Policlinico Universitario Agostino Gemelli, Univ. Cattolica del Sacro Cuore, Area Salute del Bambino, Roma (Italy); Pilato, Fabio [Fondazione Policlinico Universitario Agostino Gemelli, Univ. Cattolica del Sacro Cuore, Area Neuroscienze, Roma (Italy)
We propose an magnetic resonance imaging (MRI)-based quantitative morphovolumetric approach to the posterior cranial fossa (PCF) and craniocervical junction (CCJ) changes in achondroplastic patients investigating possible associations with ventriculomegaly and medullary compression. We analyzed MRI of 13 achondroplastic children not treated by surgery. 3D FSPGR T1-weighted images were used to analyze (1) PCF synchondroses; (2) PCF volume (PCFV), PCF brain volume (PCFBV), PCFV/PCFBV ratio, cerebellar volume, cerebrospinal fluid (CSF) spaces volume, and IV ventricle volume; (3) PCF (clivus, supraocciput, exocciput lengths, tentorial angle) and CCJ (AP and LL diameters of foramen magnum (FM)) morphometry; (4) measurements of FM and jugular foramina (JF) areas; and (5) supratentorial ventricular volume. All patients showed synostosis of spheno-occipital synchondroses, eight showed synostosis of intra-occipital synchondroses, nine showed CCJ impingement on the cervical cord but only three had cervical myelopathy. Compared to controls, clivus and exocciput lengths, LL and AP diameters of FM, FM area and JF area were significantly reduced, supraocciput length, tentorial angle, PCFV, PCFBV, cerebellar volume, supratentorial ventricular system volume were significantly increased. A correlation was found between clivus length and supratentorial ventricular volume, premature closure of intra-occipital synchondroses and FM area while a trend was found between FM area and supraocciput length. Our analysis demonstrates a relationship between the shortening of the clivus and the ventriculomegaly. On the other hand the premature closure of PCF synchondroses, the shape, and the growth direction of supraocciput bone contribute to reduce the FM area, causing in some patients medullary compression. (orig.)
Kamochi, Hideaki; Sunaga, Ataru; Chi, Daekwan; Asahi, Rintaro; Nakagawa, Shiho; Mori, Masanori; Uda, Hirokazu; Sarukawa, Shunji; Sugawara, Yasushi; Yoshimura, Kotaro
Although the charting of normal intracranial volume (ICV) is fundamental for managing craniosynostosis, Asian norms in this regard are unknown. The purpose of this study was to establish a growth curve for ICVs in a large series of normal Asian children, providing reference values to guide corrective surgery. A total of 124 normal children (male, 63; female, 61) and 41 children diagnosed with craniosynostoses were analyzed. Patients aged 0-8 years presenting to the emergency room and subjected to computed tomography (CT) for head trauma served as the reference cohort. Axial CT head scan data were obtained from radiographic archives at Jichi Medical University. Imaging was done on a Siemens CT scanner (5-mm slice thickness), using a DICOM viewer to measure ICVs. ICVs were plotted against age, and best-fit logarithmic curves for normal subjects were generated, without and with gender stratification. Male and female growth curves were similar in shape but diverged past the age of 1 year (male > female). ICVs of patients with craniosynostoses were plotted to male and female growth curves by disease subset, revealing the following: sagittal synostosis, near normal (or marginally larger); metopic synostosis, below normal; other non-syndromic synostoses (unilateral, bilateral, and lambdoidal) and Crouzon syndrome, near normal; Apert syndrome, above normal; and Pfeiffer syndrome, variable. ICVs of early childhood were investigated in Asian subjects, creating growth curves that set criteria for timing, planning and goalsetting in surgical correction of craniosynostosis. Copyright © 2017 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.
Kölby, David; Fischer, Sara; Arab, Khalid; Maltese, Giovanni; Olsson, Robert; Paganini, Anna; Tarnow, Peter; Kölby, Lars
Spring-assisted cranioplasty to correct sagittal synostosis is based on midline craniotomy through the closed sagittal suture, over the superior sagittal sinus (SSS). The aim of the present study was to evaluate the perioperative safety of this technique. This is a retrospective study of all patients operated with median craniotomy and springs from 1998 to the end of 2015. For comparison, all Pi-plasties performed during the same time interval were also evaluated. The safety measures were evaluated based on incidence of damage to SSS, incidence of dural tears, perioperative blood loss, operative time, and hospital stay. In the group that had undergone midline craniotomy combined with springs (n = 225), 4 perioperative damages to SSS and 1 dural tear were seen. The perioperative blood loss was 62.8 ± 65.3 mL (mean ± standard deviation). The operative time was 67.9 ± 21.5 minutes and the hospital stay was 4.8 ± 1.1 days. In the group that had undergone pi-plasty (n = 105), no damages to SSS but 3 dural tears were seen. The perioperative blood loss was 352.8 ± 174.4 mL. The operative time was 126.0 ± 31.7 minutes and the hospital stay was 7.1 ± 1.4 days. Craniotomy SSS in sagittal synostosis is a safe procedure with low morbidity in terms of damage to the SSS. Midline craniotomy combined with springs has significantly lower preoperative blood loss, operative time, and hospital stay (P < 0.001 for all) compared to pi-plasty.
Yu, Jae Eun; Park, Dong Ha; Yoon, Soo Han
The Muenke syndrome (MS) is characterized by unicoronal or bicoronal craniosynostosis, midfacial hypoplasia, ocular hypertelorism, and a variety of minor abnormalities associated with a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. The birth prevalence is approximately one in 10,000 live births, accounting for 8-10% of patients with coronal synostosis. Although MS is a relatively common diagnosis in patients with craniosynostosis syndromes, with autosomal dominant inheritance, there has been no report of MS, in an affected Korean family with typical cephalo-facial morphology that has been confirmed by molecular studies. Here, we report a familial case of MS in a female patient with a Pro250Arg mutation in exon 7 (IgII-IGIII linker domain) of the FGFR3 gene. This patient had mild midfacial hypoplasia, hypertelorism, downslanting palpebral fissures, a beak shaped nose, plagio-brachycephaly, and mild neurodevelopmental delay. The same mutation was confirmed in the patient's mother, two of the mother's sisters and the maternal grandfather. The severity of the cephalo-facial anomalies was variable among these family members.
Full Text Available Abstract Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.
Roldán Arce Jorge
Full Text Available Pfeiffer syndrome is a rare autosomal dominant disease that affects almost 1 out of every 100,000 live newborns, and it is associated with craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly in hands and feet. Three types of this syndrome have been described based on the presence of other abnormalities and the severity of the condition. “Classic” type 1 consists of mild severity with normal to near-normal intelligence and generally a good prognosis. Type 2 is characterized by a cloverleaf skull, severe proptosis, elbow ankylosis or synostosis, growth retardation and life-threatening neurological and respiratory complications. Type 3 is similar to type 2 but without the cloverleaf cranium. This syndrome is genetically heterogeneous, it is caused by mutations in the fibroblast growth factor receptor genes FGFR- 1 or FGFR-2. Occasionally Pfeiffer syndrome can be diagnosed prenatally by sonography or molecularly if the causative mutation is known. Management must be multidisciplinary and it includes multiple-staged surgery. In this report we present the clinical and radiographic findings in female newborn, whose clinical features were consistent with Pfeiffer syndrome type 2. A brief updated review of the literature is included.
Andaloussi, Saad; Amine Oukhouya, Mohamed; Alaoui, Othmane; Atarraf, Karima; Chater, Lamiae; Afifi, My Abderrahmane
This study aims to describe the complications of elastic stable intramedullary nailing (ESIN) in the treatment of both-bone forearm diaphyseal fractures in the child. Between January 2009 and December 2013, 87 children with both-bone forearm diaphyseal fractures were treated by elastic stable intramedullary nailing with Métaizeau nails. 76 boys and 11 girls, with an average age of 12 years, were enrolled in the study. Nailing was promptly performed in 50 cases and after secondary displacement during plaster-cast treatment in the other cases. Both bones were nailed in all cases. All patients underwent systematic plaster immobilization for a period of about one month. On average, nails were removed after about 6 months. Functional outcomes were studied over a mean follow-up period of 10 months. Complications were marked by 14 superficial infections (14 cases), osteitis associated with material (2 cases), refracture (3 cases), pseudarthrosis (3 cases), delayed fracture consolidation (2 cases) and proximal radioulnar synostosis (1 case). Although intramedullary nailing ideally is an osteosynthesis technique suitable for the treatment of fractures in children, it is more invasive than orthopaedic treatment.Indications for treatment should remain within well-established limits.
Leikola, J; Hukki, A; Karppinen, A; Valanne, L; Koljonen, V
We sought to examine the pre- and postoperative changes of cerebellar tonsillar herniation by MR imaging in asymptomatic pediatric patients with nonsyndromic, single-suture craniosynostosis (N-SSSC), who underwent cranial vault remodeling surgery without suboccipital decompression. We required cerebellar tonsillar herniation through foramen magnum ≥3 mm for Chiari type I malformation (CMI). We hypothesized that the increase of intracranial volume by cranial vault remodeling would correct the asymptomatic CMI. We identified 9 patients among 121 N-SSSC children undergoing craniofacial surgery from January 2004 to October 2010 with CMI. However, two of them were excluded from the study due to missing postoperative MR images. In the final study population, six were males, five were scaphocephalic, while two were diagnosed with coronal synostosis. In four of the cases, the CMI was decreased in postoperative MR imaging varying from 6 to 12 mm. In three cases, the herniation remained stable. The median change of cerebellar tonsillar herniation was -6.5 mm. We conclude that asymptomatic patients with existing CMI may benefit from cranial vault remodeling surgery alone increasing the intracranial volume.
Rania M El Backly
Full Text Available The present work defines a modified critical size rabbit ulna defect model for bone regeneration in which a non-resorbable barrier membrane was used to separate the radius from the ulna to create a valid model for evaluation of tissue-engineered periosteal substitutes. Eight rabbits divided into two groups were used. Critical defects (15 mm were made in the ulna completely eliminating periosteum. For group I, defects were filled with a nanohydroxyapatite poly(ester urethane scaffold soaked in PBS and left as such (group Ia or wrapped with a tissue-engineered periosteal substitute (group Ib. For group II, an e-PTFE (GORE-TEX® membrane was inserted around the radius then the defects received either scaffold alone (group IIa or scaffold wrapped with periosteal substitute (group IIb. Animals were euthanized after 12-16 weeks, and bone regeneration was evaluated by radiography, computed microtomography (µCT, and histology. In the first group, we observed formation of radio-ulnar synostosis irrespective of the treatment. This was completely eliminated upon placement of the e-PTFE (GORE-TEX® membrane in the second group of animals. In conclusion, modification of the model using a non-resorbable e-PTFE membrane to isolate the ulna from the radius was a valuable addition allowing for objective evaluation of the tissue-engineered periosteal substitute.
El Backly, Rania M.; Chiapale, Danilo; Muraglia, Anita; Tromba, Giuliana; Ottonello, Chiara; Santolini, Federico; Cancedda, Ranieri; Mastrogiacomo, Maddalena
The present work defines a modified critical size rabbit ulna defect model for bone regeneration in which a non-resorbable barrier membrane was used to separate the radius from the ulna to create a valid model for evaluation of tissue-engineered periosteal substitutes. Eight rabbits divided into two groups were used. Critical defects (15 mm) were made in the ulna completely eliminating periosteum. For group I, defects were filled with a nanohydroxyapatite poly(ester urethane) scaffold soaked in PBS and left as such (group Ia) or wrapped with a tissue-engineered periosteal substitute (group Ib). For group II, an expanded-polytetrafluoroethylene (e-PTFE) (GORE-TEX®) membrane was inserted around the radius then the defects received either scaffold alone (group IIa) or scaffold wrapped with periosteal substitute (group IIb). Animals were euthanized after 12–16 weeks, and bone regeneration was evaluated by radiography, computed microtomography (μCT), and histology. In the first group, we observed formation of radio-ulnar synostosis irrespective of the treatment. This was completely eliminated upon placement of the e-PTFE (GORE-TEX®) membrane in the second group of animals. In conclusion, modification of the model using a non-resorbable e-PTFE membrane to isolate the ulna from the radius was a valuable addition allowing for objective evaluation of the tissue-engineered periosteal substitute. PMID:25610828
Pascarelli, Luciano; Righi, Lúcio César Silva; Bongiovanni, Roberto Rangel; Imoto, Rogério Sano; Teodoro, Renato Loureiro; Ferro, Hemanoel Fernando dos Anjos
OBJECTIVE: Evaluation of postoperative results of repair of distal biceps brachii ruptures through a two anterior mini-incisions. METHODS: Nine patients with clinical and imaging (MRI) diagnosis of total lesion of the biceps brachii at its insertion were operated with a surgical technique with two mini-incisions between 2008 and 2011. The patients were evaluated after three months of evolution and all of them recovered the fully flexion-extension arch. RESULTS: Two patients (22.2%) presented a limitation of 20 degrees of supination. One patient (11.1%) had radial nerve palsy, but was totally recovered after five months. In one patient (11.1%) the muscle remained retracted, but the insertion was recovered. In three patients (33.3%) adhesion was observed on the proximal scar. There was no clinical or radiographic evidence of radioulnar synostosis after six months of evolution. All patients reported satisfaction with the treatment. CONCLUSIONS: We conclude that the presented method shows good results as well as other techniques, with less risk of adhesion on the flexor fold of the elbow. Level of Evidence IV, Case Series. PMID:24453647
Meazzini, Maria Costanza; Allevia, Fabiana; Mazzoleni, Fabio; Ferrari, Luca; Pagnoni, Mario; Iannetti, Giorgio; Bozzetti, Alberto; Brusati, Roberto
Midface distraction osteogenesis (DO) in craniofacial synostosis (CFS) patients has been described by several authors. However, very few cephalometric and computed tomography (CT) long-term follow-up studies are available. A total of 40 consecutive patients affected by CFS subjected to Le Fort III and rigid external distraction (RED) were examined. All patients had pre-DO cephalometric records, immediately post-DO and 6-12 months post-DO. Twenty-seven patients had mid-term records (3 years post-DO) and 20 patients had long-term records (5-10 years post-DO). Fourteen patients had CT data within 1-year of DO, while 10 patients had long-term CT data (range 5-9 years). Excellent post-surgical stability was recorded. Short- and long-term CT data demonstrated excellent ossification at the osteotomy sites post-DO. In the growing patients, surface resorption in the zygomatic-temporal and in the subspinal area (p term follow-up, as well as a mild increment of the corrected exorbitism (p term, in growing patients, in general a class III malocclusion does not re-occur, but physiological remodelling processes at the maxillary-zygomatic level, not coupled with sutural growth, tend to mildly re-express the original midfacial phenotype and the exorbitism. Copyright © 2011 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.
Nguyen, Thuan B; Shock, Leslie A; Missoi, Tara G; Muzaffar, Arshad R
Ophthalmic abnormalities in children with syndromic craniosynostosis have been reported previously, and referral of these children to a pediatric ophthalmologist is recommended. However, it is not as clear whether a child with nonsyndromic synostosis needs to be referred to a pediatric ophthalmologist. The aim of this study is to report the incidence of amblyopia and its risk factors in children with isolated metopic craniosynostosis. An institutional review board-approved, retrospective review was performed on 91 children diagnosed with isolated metopic craniosynostosis. Ophthalmologic records were reviewed for diagnoses of amblyopia, strabismus, and refractive error. Of the 91 children, 19 (20.9%) had astigmatism, eight (8.8%) had amblyopia, eight (8.8%) had strabismus, five had myopia (5.5%), five had hyperopia (5.5%), and five had anisometropia (5.5%). The incidence of amblyopia and its risk factors found in our study are higher than the rate found in the clinically normal pediatric population. In our patient population, children with isolated metopic craniosynostosis demonstrate an increased rate of amblyopia and its risk factors. Amblyopia is best treated early in life to achieve a successful outcome. A referral to a pediatric ophthalmologist for a formal eye exam and potential treatment is therefore recommended for children with isolated metopic craniosynostosis.
Rudnik-Schöneborn, S; Zerres, K; Graul-Neumann, L; Wiegand, S; Mellerowicz, H; Hehr, U
Ellis-van Creveld (EvC) syndrome is a rare autosomal recessive malformation syndrome with the main features cardiac defects, postaxial hexadactyly, mesomelic shortening of the limbs, short ribs, dysplastic nails and teeth, oral frenula and various other abnormalities while mental function is normal. We describe 2 adult EvC patients with the cardinal skeletal features of mesomelic short stature and severe, progressive genu valgum deformity, resulting from loss of function mutations in the EVC genes. While the genu valgum was the predominating and disabling feature in patient 1, patient 2 showed acroosteolyses in the distal phalanges and a symmetrical synostosis of metacarpals in his hands. Moreover, patient 2 developed synostoses in the additional fingers in adolescence which had not been present at the age of 12 years, suggesting a further progression of skeletal disease. Joint fusion of phalanges so far has not been reported in EvC syndrome. Our data further expand the phenotypic spectrum of EvC related skeletal malformations and contribute important new information on the clinical course of EvC syndrome with increasing age.
Doumit, Gaby D; Papay, Frank A; Moores, Neal; Meisler, Eileen; Zins, James E
In health care, it is widely known that evidence-based medicine (EBM) has a significant impact on clinical practice, and opinion leaders can enhance the clinician's application of EBM in various disciplines. In this article, we examine the existence and impact of opinion leaders in craniofacial surgery as well as barriers to evidence-based practice. We compiled the answers of an Internet questionnaire, which was sent to 102 craniofacial surgeons. Our results demonstrate that opinion leaders most definitely can be identified in craniofacial surgery. They are tightly connected to their field's social network and promote EBM. In this survey, 44% of craniofacial surgeons reported that their greatest obstacle to clinical decision making in the management of nonsyndromic synostosis was lack of surgical consensus. In addition, craniofacial surgeons stated that EBM and opinion leaders are the most influential factors that caused them to change their management of craniosynostosis. We expect that the use of opinion leaders can further enhance the uptake of EBM in craniofacial surgery.
Bendon, Charlotte L; Fenwick, Aimée L; Hurst, Jane A; Nürnberg, Gudrun; Nürnberg, Peter; Wall, Steven A; Wilkie, Andrew O M; Johnson, David
Frank-ter Haar syndrome is a rare disorder associated with skeletal, cardiac, ocular and craniofacial features including hypertelorism and brachycephaly. The most common underlying genetic defect in Frank-ter Haar syndrome appears to be a mutation in the SH3PXD2B gene on chromosome 5q35.1. Craniosynostosis, or premature fusion of the calvarial sutures, has not previously been described in Frank-ter Haar syndrome. We present a family of three affected siblings born to consanguineous parents with clinical features in keeping with a diagnosis of Frank-ter Haar syndrome. All three siblings have a novel mutation caused by the deletion of exon 13 of the SH3PXD2B gene. Two of the three siblings also have non-scaphocephalic sagittal synostosis associated with raised intracranial pressure. The clinical features of craniosynostosis and raised intracranial pressure in this family with a confirmed diagnosis of Frank-ter Haar syndrome expand the clinical spectrum of the disease. The abnormal cranial proportions in a mouse model of the disease suggests that the association is not coincidental. The possibility of craniosynostosis should be considered in individuals with a suspected diagnosis of Frank-ter Haar syndrome.
Bendon Charlotte L
Full Text Available Abstract Background Frank-ter Haar syndrome is a rare disorder associated with skeletal, cardiac, ocular and craniofacial features including hypertelorism and brachycephaly. The most common underlying genetic defect in Frank-ter Haar syndrome appears to be a mutation in the SH3PXD2B gene on chromosome 5q35.1. Craniosynostosis, or premature fusion of the calvarial sutures, has not previously been described in Frank-ter Haar syndrome. Case presentation We present a family of three affected siblings born to consanguineous parents with clinical features in keeping with a diagnosis of Frank-ter Haar syndrome. All three siblings have a novel mutation caused by the deletion of exon 13 of the SH3PXD2B gene. Two of the three siblings also have non-scaphocephalic sagittal synostosis associated with raised intracranial pressure. Conclusion The clinical features of craniosynostosis and raised intracranial pressure in this family with a confirmed diagnosis of Frank-ter Haar syndrome expand the clinical spectrum of the disease. The abnormal cranial proportions in a mouse model of the disease suggests that the association is not coincidental. The possibility of craniosynostosis should be considered in individuals with a suspected diagnosis of Frank-ter Haar syndrome.
Stella, Irene; Vinchon, Matthieu; Guerreschi, Pierre; De Berranger, Eva; Bouacha, Ikram
Osteopetrosis (OP) is a rare skeletal disease, which can affect the skull base and calvaria. A multidisciplinary approach is mandatory and patient may need neurosurgical care. Few observations have been published, and optimal management of OP is not established yet. We report a case of an infant with OP diagnosed at 5 months, who presented signs of intracranial hypertension associated with unilateral blindness. Bone marrow allograft was performed at 6 months of age. At neurosurgical first examination at 11 months, the child was hypotonic, with severe amblyopia; features of bicoronal synostosis were appreciated, with tense anterior fontanel bulging indicating synostotic oxycephaly. Head circumference had decreased from +3 SD to +1SD. Cerebral CT scan showed reduction of intracranial volume, inward thickening of the calvaria, bilateral stenosis of optic canal, ventricular dilatation, enlarged arachnoid spaces, and tonsillar herniation. We performed cranial vault expansion with frontal advancement and bi parietal decompression, thinning of the inner table, unroofing of the left orbit and optic canal in order to obtain optic nerve decompression. Postoperative course was uneventful, and the patient was discharged on day 8. Vision was unchanged but rapid improvement of axial tonus was noted. The CT scan showed satisfactory calvarial expansion with regression of tonsillar herniation. Neurosurgical evaluation and care are necessary in the context of a multidisciplinary approach to the patient affected by osteopetrosis. Cranial vault remodeling and expansion should be considered in patients with sign of intracranial hypertension. Timing of optic canal decompression is to be defined.
Sgulò, Francesco Giovanni; Spennato, Pietro; Aliberti, Ferdinando; Di Martino, Giuliana; Cascone, Daniele; Cinalli, Giuseppe
Chiari malformation type I (CM-I) and hydrocephalus are often associated with complex craniosynostosis. On the contrary, their simultaneous occurrence in monosutural synostosis is extremely rare. The pathophysiological hypothesis is that they may alter posterior fossa growth and lead to cerebellar tonsil herniation also without skull base primary involvement. Hydrocephalus is multifactorial and may be secondary to fourth ventricle outlet obstruction. The management of these cases is quite complex and not well defined. Cranial vault remodeling should be the only treatment when CM-I is asymptomatic and not related to syringomyelia. Suboccipital decompression should be reserved only in complicated CM-I, usually as a second surgical step following the correction of the supratentorial deformity. In our opinion, the associated hydrocephalus should be treated first in order to normalize intracranial hypertension before opening the cranial sutures. We report the case of a 26-month-old child that presented with sagittal craniosynostosis, hydrocephalus, and CM-I. He was managed by performing endoscopic third ventriculostomy (ETV) first and cranial vault remodeling thereafter. Clinico-radiological outcome was very satisfying. Concerning literature is reviewed; physiopathology and surgical management are discussed.
Damiano, Joël; Bouysset, Maurice
The hindfoot is the part of the foot which is proximal to the midtarsal joint. The obvious causes of pain are not considered (post-traumatic etiologies, sprains and fractures but also cutaneous lesions). The main etiologies on the subject are successively exposed by following the localization of the pain. Diffuse pains (ankle arthritis tarsal osteoarthritis, algodystrophy, calcaneo-navicular synostosis but also bone diseases like stress fractures, Paget disease or tumors). Plantar talalgia (Sever's disease, plantar fasciitis and entrapment neuropathies such as (esions of the medial calcaneal nerve, of the first branch of the plantar lateral nerve, medial plantar nerve and lateral plantar nerve). Posterior pains: calcaneal tendinopathy including peritendinitis, tendinosis, retro-calcaneal bursitis and pathology of the postero-lateral talar tuberosity. Medial pains: tendinopathies of the posterior tibial tendon and tendinopathy of the flexor hallucis longus tendon and tarsal tunnel syndrome. Lateral pains: fibularis tendinopathies including split lesions of the fibularis brevis tendon, displacement of the fibularis iongus tendon, sinus tarsi syndrome and finally thickenings of capsules and ligaments and ossifications localized under the tibial malleoli. Anterior pains: antero-inferior tibio-fibular ligament, anterior tibial tendinopathy and anterior impingment syndrome.
El Backly, Rania M; Chiapale, Danilo; Muraglia, Anita; Tromba, Giuliana; Ottonello, Chiara; Santolini, Federico; Cancedda, Ranieri; Mastrogiacomo, Maddalena
The present work defines a modified critical size rabbit ulna defect model for bone regeneration in which a non-resorbable barrier membrane was used to separate the radius from the ulna to create a valid model for evaluation of tissue-engineered periosteal substitutes. Eight rabbits divided into two groups were used. Critical defects (15 mm) were made in the ulna completely eliminating periosteum. For group I, defects were filled with a nanohydroxyapatite poly(ester urethane) scaffold soaked in PBS and left as such (group Ia) or wrapped with a tissue-engineered periosteal substitute (group Ib). For group II, an expanded-polytetrafluoroethylene (e-PTFE) (GORE-TEX(®)) membrane was inserted around the radius then the defects received either scaffold alone (group IIa) or scaffold wrapped with periosteal substitute (group IIb). Animals were euthanized after 12-16 weeks, and bone regeneration was evaluated by radiography, computed microtomography (μCT), and histology. In the first group, we observed formation of radio-ulnar synostosis irrespective of the treatment. This was completely eliminated upon placement of the e-PTFE (GORE-TEX(®)) membrane in the second group of animals. In conclusion, modification of the model using a non-resorbable e-PTFE membrane to isolate the ulna from the radius was a valuable addition allowing for objective evaluation of the tissue-engineered periosteal substitute.
Tsuda, Yoshifumi; Hattori, Hidemi; Tanaka, Yoshihiro; Ishihara, Masayuki; Kishimoto, Satoko; Amako, Masatoshi; Arino, Hiroshi; Nemoto, Koichi
In the field of orthopaedic surgery, an orthopaedic surgeon sometimes requires to suppress excessive bone formation, such as ectopic bone formation, ossifying myositis and radio-ulnar synostosis, etc. Ultraviolet (UV) light irradiation of a photocrosslinkable chitosan (Az-CH-LA) generates an insoluble hydrogel within 30 s. The purpose of this study was to evaluate the ability of the photocrosslinked chitosan hydrogel (PCH) to inhibit bone formation in an experimental model of bone defect. Rat calvarium and fibula were surgically injured and PCH was implanted into the resultant bone defects. The PCH implants significantly prevented bone formation in the bone defects during the 4 and 8 week observation periods. In the PCH-treated defects, fibrous tissues infiltrated by inflammatory cells were formed by day 7, completely filling the bone defects. In addition to these findings, expression of osteocalcin and runt-related gene 2 (RUNX2) mRNA, both markers of bone formation, was lower in the PCH-treated defects than in the controls. In contrast, collagen type 1α2 and α-smooth muscle actin (α-SMA) mRNA levels were significantly higher in the PCH-treated defects after 1 week. PCH stimulated the formation of fibrous tissue in bone defects while inhibiting bone formation. Thus, PCH might be a promising new therapeutic biomaterial for the prevention of bone formation in orthopaedic surgery. Copyright © 2012 John Wiley & Sons, Ltd.
Liebhart, J; Kuś, H; Martosz, M; Rutowski, R; Małolepszy, J; Obojski, A; Medrala, W
Metals are known as a common cause of contact allergies. The prevalence of sensitisation to the composite metals makes for a potential risk of osteosynthesis complications in patients suffering from long bones fractures. In the study the prevalence of delayed allergy to nickel sulphate, potassium dichromate and cobalt was estimated as well as the relation to the osteosynthesis complications. The atopy prevalence was estimated too. Persons under examination were divided into 3 groups. I--treated with osteosynthesis without complications (n = 20), II--treated with osteosynthesis with synostosis complications (n = 16) and III--negative controls (n = 34). We estimated 5% prevalence of delayed allergy to nickel in group I, 6.25% in group II and 5.8% in group III. In patients exposed to chromium we observed delayed allergy prevalence of 5.8% in group I and 3% in group III. No allergy to chromium in group II was revealed. No allergy to cobalt in all groups was revealed. The prevalence of atopy in group II was rare (6.35%) when in group I it was 45% and in controls 32%. The more frequent occurrence of type IV allergy to metals in atopic patients was not confirmed. There was no difference between the prevalence of delayed allergy to metals in groups I and II. Only one case of secondary allergy to chromium was observed.
Hell, A K; von Laer, L
Fractures of the proximal end of the radius in the growth phase have three characteristics: the head of the radius articulates with two joint partners and is therefore indispensable for an undisturbed function of the elbow. The blood supply of the proximal end of the radius is via periosteal vessels in the sense of a terminal circulation which makes it extremely vulnerable. Severe trauma caused either by accidents or treatment, can result in partial or complete necrosis with deformity of the head and neck region of the radius. Radioulnar synostosis and chronic epiphysiolysis are irreversible complications which can occur after excessive physiotherapy. Despite a low potency growth plate, in young patients the proximal end of the radius shows an enormous spontaneous correction of dislocations. Side to side shifts, however, will not be remodeled. Therapy should be as atraumatic as possible. Due to the blood supply situation, with the appropriate indications the spontaneous correction and a brief period of immobilization without physiotherapy should be integrated into the therapy concept. If an operation is necessary, repeated traumatic repositioning maneuvers should be avoided and in case of doubt closed or careful open repositioning can be achieved with intramedullary nailing. In order to take the special characteristics of the proximal radius into consideration, the vulnerability and correction potential must be weighed up against each other. Therapy must be as atraumatic as possible. The spontaneous correction potential should be integrated into the primary therapy without overestimating this potential with respect to the extent and age of the patient.
The purpose of this study was to investigate the effect of early fixation of the coronal suture on the skeletal growth pattern of maxillary complex in rat. Rats were sacrificed at 2, 4, 6, and 8 weeks after operation and their dryskulls were prepared. Computerized images of dorsoventral cephalograms were measured and analyzed statistically. The left coronal suture in the experimental group was fixed with cyanoacrylate adhesive at 4 days old, and the rats were fed with hard diet after weaning. Their snout bent towards the operated side 4 weeks after operation and then had a tendency to grow back towards the mid line. The left palatine bone was the most affected in the maxillary complex. There were no specific findings in the maxilla. Catch up growth of the left palatine and premaxillary bone was found 4 weeks after operation. On the other hand, this catch up growth was hardly found in another experimental group, which upper and lower incisor edges were trimmed every other day and received a soft diet. A number of direct measurements on the palatine and the premaxillary bone indicated compensatory growth following the changing masticatory function such as incisor edges trimming and diet difference. It was concluded that functional effects of incisal occlusion might suppress skeletal deformity formed with unilateral coronal synostosis.
Le Goff, Carine; Rogers, Curtis; Le Goff, Wilfried; Pinto, Graziella; Bonnet, Damien; Chrabieh, Maya; Alibeu, Olivier; Nistchke, Patrick; Munnich, Arnold; Picard, Capucine; Cormier-Daire, Valérie
Cardiospondylocarpofacial (CSCF) syndrome is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion and extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner ear malformations. Whole-exome sequencing identified heterozygous MAP3K7 mutations in six distinct CSCF-affected individuals from four families and ranging in age from 5 to 37 years. MAP3K7 encodes transforming growth factor β (TGF-β)-activated kinase 1 (TAK1), which is involved in the mitogen-activated protein kinase (MAPK)-p38 signaling pathway. MAPK-p38 signaling was markedly altered when expression of non-canonical TGF-β-driven target genes was impaired. These findings support the loss of transcriptional control of the TGF-β-MAPK-p38 pathway in fibroblasts obtained from affected individuals. Surprisingly, although TAK1 is located at the crossroad of inflammation, immunity, and cancer, this study reports MAP3K7 mutations in a developmental disorder affecting mainly cartilage, bone, and heart. Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
Hefferan, Theresa E.; Kennedy, Angela M.; Evans, Glenda L.; Turner, Russell T.
BACKGROUND: Alcohol abuse is associated with an increased risk for osteoporosis. However, comorbidity factors may play an important role in the pathogenesis of alcohol-related bone fractures. Suboptimal mechanical loading of the skeleton, an established risk factor for bone loss, may occur in some alcohol abusers due to reduced physical activity, muscle atrophy, or both. The effect of alcohol consumption and reduced physical activity on bone metabolism has not been well studied. The purpose of this study was to determine whether mechanical disuse alters bone metabolism in a rat model for chronic alcohol abuse. METHODS: Alcohol was administered in the diet (35% caloric intake) of 6-month-old male rats for 4 weeks. Rats were hindlimb-unloaded the final 2 weeks of the experiment to prevent dynamic weight bearing. Afterward, cortical bone histomorphometry was evaluated at the tibia-fibula synostosis. RESULTS: At the periosteal surface of the tibial diaphysis, alcohol and hindlimb unloading independently decreased the mineralizing perimeter, mineral apposition rate, and bone formation rate. In addition, alcohol, but not hindlimb unloading, increased endocortical bone resorption. The respective detrimental effects of alcohol and hindlimb unloading to inhibit bone formation were additive; there was no interaction between the two variables. CONCLUSIONS: Reduced weight bearing accentuates the detrimental effects of alcohol on cortical bone in adult male rats by further inhibiting bone formation. This finding suggests that reduced physical activity may be a comorbidity factor for osteoporosis in alcohol abusers.
Full Text Available Twist1 and Twist2 are highly homologous bHLH transcription factors that exhibit extensive highly overlapping expression profiles during development. While both proteins have been shown to inhibit osteogenesis, only Twist1 haploinsufficiency is associated with the premature synostosis of cranial sutures in mice and humans. On the other hand, biallelic Twist2 deficiency causes only a focal facial dermal dysplasia syndrome or additional cachexia and perinatal lethality in certain mouse strains. It is unclear how these proteins cooperate to synergistically regulate bone formation.Twist1 floxed mice (Twist1(f/f were bred with Twist2-Cre knock-in mice (Twist2(Cre/+ to generate Twist1 and Twist2 haploinsufficient mice (Twist1(f/+; Twist2(Cre/+. X-radiography, micro-CT scans, alcian blue/alizarin red staining, trap staining, BrdU labeling, immunohistochemistry, in situ hybridizations, real-time PCR and dual luciferase assay were employed to investigate the overall skeletal defects and the bone-associated molecular and cellular changes of Twist1(f/+;Twist2(Cre/+ mice.Twist1 and Twist2 haploinsufficient mice did not present with premature ossification and craniosynostosis; instead they displayed reduced bone formation, impaired proliferation and differentiation of osteoprogenitors. These mice exhibited decreased expressions of Fgf2 and Fgfr1-4 in bone, resulting in a down-regulation of FGF signaling. Furthermore, in vitro studies indicated that both Twist1 and Twist2 stimulated 4.9 kb Fgfr2 promoter activity in the presence of E12, a Twist binding partner.These data demonstrated that Twist1- and Twist2-haploinsufficiency caused reduced bone formation due to compromised FGF signaling.
Kim, S A; Letyagin, G V; Danilin, V E; Sysoeva, A A
Shunt-induced craniosynostosis is one of the late complications of CSF shunting surgery, which affects the patient's condition, clinical picture, and treatment approach. to evaluate the prevalence rate and clinical significance of this disease, define the indications for surgery, and choose the optimal surgical approach. The study included 59 children with shunt system dysfunction, aged 1 to 14 years, who were treated at the Department in the period from 2014 to 2016. The inclusion criteria were as follows: 1) age at the time of examination is older than 1 year; 2) implantation of a shunt system in the first 12 months of life. The state of cranial sutures was assessed using three-dimensional reconstruction of patient's computerized tomography images. Images obtained before or in the first months after primary implantation of a shunt system were used to exclude cases of primary craniosynostosis. Premature synostosis of the cranial sutures was detected in 27 (46%) cases. Of these, 3 (11%) patients with clinical symptoms of increased intracranial pressure and radiographic signs of craniocerebral disproportion underwent cranial vault remodeling surgery: two biparietal craniotomies and one fronto-parieto-occipital reconstruction. In two cases, simultaneous replacement of a valve with a programmable one was performed. There were no complications after reconstructive surgery. Shunt-associated craniosynostosis is one of the late complications of CSF shunting surgery. However, its presence is not an indication for surgery and should not be a reason for surgical aggression. Surgery for increasing the intracranial volume is indicated only for secondary craniosynostosis combined with signs of craniocerebral disproportion. In these cases, reconstructive surgery is an effective treatment option for improving the patient's condition.
Klonz, Andreas; Loitz, Dietmar; Wöhler, Peter; Reilmann, Heinrich
Anatomic reattachment of the distal biceps tendon is well established but bears the risk of complications including loss of motion and nerve damage. We questioned whether nonanatomic repair by tenodesis to the brachialis muscle is able to accomplish similar results with less risk. We compared the results of anatomic repair with suture anchors (n = 6) with the results of nonanatomic repair (n = 8). Anatomic reattachment of the biceps tendon can restore full power of flexion in most cases as determined by isokinetic muscle tests (mean, 96.8% compared with the contralateral side). Nonanatomic repair also restores flexion strength to a mean of 96%. Supination power averaged 91% after anatomic repair. Supination strength after nonanatomic repair did not improve in 4 of 8 patients (42%-56% of the uninjured arm). The other 4 patients were able to produce 80% to 150% of the strength of the contralateral side. Major complications such as radioulnar synostosis or motor nerve damage were not encountered in either group. Heterotopic ossification was seen in 4 cases after reinsertion to the tuberosity. One of these patients was not satisfied with the procedure because of anterior elbow pain, even at rest. After tenodesis to the brachialis, one patient was unsatisfied because of considerable weakness. We concluded that major complications after anatomic repair are rare but must not be ignored. Tenodesis of the distal biceps tendon is a safe alternative procedure. We inform our patients about the benefits and risks of anatomic and nonanatomic repair as well as those of nonoperative treatment. The decision concerning the type of therapy best suited for an individual patient should be made on an informed consent basis.
Sigmundsson, Freyr Gauti; Olafsson, Ari H; Ingvarsson, Thorvaldur
Rupture of the distal tendon of the biceps muscle is a rare injury. If unrepaired the patient will be left with weakness of supination of the arm and flexion in the elbow. Long term results for the 2-incision approach for tendon reinsertion are few but in this study we describe the long term, clinical, functional, and subjective results of surgical repair using the 2-incision method described by Boyd and Anderson. All patients who were operated at FSA hospital during the years 1986-2000 because of rupture of the distal tendon of the biceps muscle were asked to participate in the study. Twelve of 16 patients accepted and answered the DASH questionnaire. Strength was tested with handheld dynamometer and ROM where measured. Radiograph was taken of the affected arm. From 1986 through 2006 we operated on 16 patients because of rupture of the distal biceps tendon, one female and 15 male. Mean age at the time of rupture was 46 years (24-53).The average follow up were seven years (1-17). Ten of 12 patients were operated within two weeks from the injuries. No difference in strength was found between operated and non-operated arms. Late repair was associated with high DASH score and poor subjective results. Six patients developed heterotopic ossification but none of them developed radioulnar synostosis. One reoperation because entrapment of the median nerve was done. Despite heterotopic ossification and a small ROM deficit the Boyd and Anderson technique for repair of distal biceps ruptures yields good long term results in a low volume rural hospital. Early diagnosis and tendon reinsertion is of great importance to avoid persistent anterior elbow pain and poor subjective results.
St John, Dane; Pai, Lori; Belfer, Myron L; Mulliken, John B
The purpose of this study was to determine rates of divorce in parents of children with various types of craniofacial anomalies and to analyze possible confounding factors. A 29-question survey was sent to parents of all children evaluated in the Craniofacial Centre between 1992 and 1997. Parents were questioned regarding pre- and postnatal marital stability, whether the child's facial anomaly contributed to divorce, and involvement in the child's welfare. Using deformational posterior plagiocephaly as a control group, rates of divorce vs. non-divorce were compared for craniofacial anomalies, categorized as asymmetric (hemifacial microsomia, unilateral coronal synostosis, cleft lip, cleft lip/palate) or symmetric (syndromic-craniosynostosis, orbital hypertelorism, Treacher Collins syndrome). Major anomalies (hemifacial microsomia, craniosynostosis, orbital hypertelorism, Treacher Collins syndrome) were also compared to minor anomalies (cleft lip, cleft lip/palate). Surveys were sent to both parents in 412 families; 403 surveys were returned; and the results were evaluated in 275 families (67%). Frequency analysis demonstrated an overall divorce rate of 6.8% and 4.9% separation. Anomalies associated with the highest rate of divorce were hemifacial microsomia (24.0%), syndromic craniosynostosis (12.2%), and cleft lip/palate (6.8%). 79% of non-divorced couples reported a strong prenatal relationship, whereas 59% of divorced couples reported a problematic relationship. Following birth of the affected child, 47% of non-divorced couples responded that the bonds became stronger and 41% of divorced couples thought the relationship worsened. Two-sided Fisher exact test comparing control vs. all other anomalies showed significance (p=.030) for rates of divorce. Separation of anomalies into asymmetric vs. symmetric and major vs. minor categories demonstrated no significant difference in divorce rate (p>.05). The mother was more likely to become a child's primary caregiver
Wingert, Nathaniel C; Beck, John D; Harter, G Dean
In addition to neurologic injuries such as peripheral nerve palsy, axillary vessel injury should be recognized as a possible complication of reverse total shoulder arthroplasty. Limb lengthening associated with Grammont-type reverse total shoulder arthroplasty places tension across the brachial plexus and axillary vessels and may contribute to observed injuries. The Grammont-type reverse total shoulder arthroplasty prosthesis reverses the shoulder ball and socket, shifts the shoulder center of rotation distal and medial, and lengthens the arm. This alteration of native anatomy converts shearing to compressive glenohumeral joint forces while augmenting and tensioning the deltoid lever arm. Joint stability is enhanced; shoulder elevation is enabled in the rotator cuff–deficient shoulder. Arm lengthening associated with reverse total shoulder arthroplasty places a longitudinal strain on the brachial plexus and axillary vessels. Peripheral nerve palsies and other neurologic complications of reverse total shoulder arthroplasty have been documented. The authors describe a patient with rotator cuff tear arthropathy and a history of radioulnar synostosis who underwent reverse total shoulder arthroplasty complicated by intraoperative injury to the axillary artery and postoperative radial, ulnar, and musculocutaneous nerve palsies. Following a seemingly unremarkable placement of reverse shoulder components, brisk arterial bleeding was encountered while approximating the incised subscapularis tendon in preparation for wound closure. Further exploration revealed an avulsive-type injury of the axillary artery. After an unsuccessful attempt at primary repair, a synthetic arterial bypass graft was placed. Reperfusion of the right upper extremity was achieved and has been maintained to date. Postoperative clinical examination and electromyographic studies confirmed ongoing radial, ulnar, and musculocutaneous neuropathies.
Full Text Available The aim of this study was to evaluate the results of reamed and locked intramedullary nailing for tibial diaphysis fractures.Materials and methods: The study included 38 patients (26 males, 12 females who were treated with reamed and locked intramedullary nailing for tibial diaphysis fractures. Fractures were classified according to Gustilo-Anderson classification and functional results were assessed using the Johner-Wrush criteria.Results: The mean age was 36 years (range 18-61. There were 21 AO/ASIF type A, 16 type B, and 1 type C fractures. Twenty-four fracture were closed (63.1% and 14 (36.9% were open fractures. According to the Gustilo-Anderson classification, 9 were grade I, 4 patients grade II, and one grade IIIA open fractures. Intramedullary nailing was performed following open reduction in 18 patients, and closed reduction in 20. The mean time to surgery was 9.4 days and the mean follow-up was 29 months. Union was achieved in all patients within a mean of 17.6 weeks. Anterior knee pain developed in 18 patients and infection developed in three patients. Angular deformity less than 10º was developed 12 patients (31.6%. There were screw breakacge and synostosis in four and two patients respectively. According to the Johner-Wrush criteria, functional results were very good in 23 patients (60.5%, good in 12 patients (31.6% and fair in 3 (7.9% patients.Conclusion: Treatment of tibial diaphysis fractures with reamed and locked intramedullary nailing gives satisfactory results. It should be considered as first choice in the treatment of these fractures. J Clin Exp Invest 2011;2(2:168-74
Starr, Jacqueline R.; Kapp-Simon, Kathleen A.; Cloonan, Yona Keich; Collett, Brent R.; Cradock, Mary Michaeleen; Buono, Lauren; Cunningham, Michael L.; Speltz, Matthew L.
Object Although most infants with single-suture craniosynostosis (SSC) appear to have neurodevelopmental test scores in the average range, SSC has been associated with cognitive and motor delays during infancy. Whether and when surgery improves such deficits are not yet known. The authors aimed to compare the pre- and postsurgical neurodevelopmental status of patients with SSC with those of control infants without craniosynostosis. Methods The authors conducted a large, multicenter, longitudinal study of 168 infants with craniosynostosis and 115 controls without synostosis who were of similar age, race, sex, and socioeconomic status. The authors assessed participants by using the Bayley Scales of Infant Development, Second Edition (BSID-II) and the Preschool Language Scale, Third Edition (PLS-3) at enrollment, before patients’ intracranial surgery, and when participants were 18 months of age (after surgery for patients). Results After adjusting for potential confounding factors in linear regression analyses, the authors found a tendency for patients to perform similarly to or slightly worse than controls on neurodevelopmental examinations at both visits. After surgery, the patients’ mean scores were 0.6 to three points lower than those of controls on the five BSID-II and PLS-3 scales (p = 0.02–0.07). Compared with controls, patients had 2.3 and 1.9 times the adjusted odds of scoring in the delayed range on either BSID-II scale (Mental Development Index and Psychomotor Development Index) for the first and second visits, respectively (p = 0.001 and p = 0.015, respectively). The patients’ mean adjusted test scores were nearly unrelated to the timing of their surgery. Conclusions These findings support recommendations for neurodevelopmental screening in infants with SSC. Longer follow-up, as is being conducted with the patients in the present study, will be critical for identifying the potential longer-term correlates of SSC and its surgical correction. PMID
Parry, David A; Logan, Clare V; Stegmann, Alexander P A; Abdelhamed, Zakia A; Calder, Alistair; Khan, Shabana; Bonthron, David T; Clowes, Virginia; Sheridan, Eamonn; Ghali, Neeti; Chudley, Albert E; Dobbie, Angus; Stumpel, Constance T R M; Johnson, Colin A
Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS) has been reported previously to be a rare, autosomal-recessive developmental disorder with other, unique rhizomelic skeletal anomalies. These include bilateral humeral hypoplasia, humeroscapular synostosis, pelvic abnormalities, and proximal defects of the femora. To identify the genetic basis of SAMS, we used molecular karyotyping and whole-exome sequencing (WES) to study small, unrelated families. Filtering of variants from the WES data included segregation analysis followed by comparison of in-house exomes. We identified a homozygous 306 kb microdeletion and homozygous predicted null mutations of GSC, encoding Goosecoid homeobox protein, a paired-like homeodomain transcription factor. This confirms that SAMS is a human malformation syndrome resulting from GSC mutations. Previously, Goosecoid has been shown to be a determinant at the Xenopus gastrula organizer region and a segment-polarity determinant in Drosophila. In the present report, we present data on Goosecoid protein localization in staged mouse embryos. These data and the SAMS clinical phenotype both suggest that Goosecoid is a downstream effector of the regulatory networks that define neural-crest cell-fate specification and subsequent mesoderm cell lineages in mammals, particularly during shoulder and hip formation. Our findings confirm that Goosecoid has an essential role in human craniofacial and joint development and suggest that Goosecoid is an essential regulator of mesodermal patterning in mammals and that it has specific functions in neural crest cell derivatives. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
Full Text Available Background: The treatment of diaphyseal forearm fractures using open reduction and plate fixation is generally accepted as the best choice in many studies. However, periosteal stripping, haematoma evacuation may result in delayed union, nonunion and infection. Refracture after plate removal is another concern. To overcome these problems intramedullary nails (IM with different designs have been used with various outcomes. However previous IM nails have some shortcomings such is rotational instability and interlocking difficulties. We evaluated the results of newly designed IM nail in the treatment of diaphyseal forearm fractures in adults. Materials and Methods: 32 patients who had been treated with the interlocking IM nail for forearm fractures between 2011 and 2014 were included in this study. There were 23 males and 9 females with mean age of 36 years (range 18-68 years. 22 patients (68.8% had both bone fractures. Nine patients (28.1% had open fractures. The remaining ten patients (31.2% had radius or ulna fractures. Grace and Eversmann rating system was used to assess functional evaluation. Patient reported outcomes were assessed using the Disabilities of the Arm, Shoulder and Hand (DASH questionnaire scores. Results: Union was achieved in all patients. The mean followup was 17 months (range 13 – 28 months. According to the Grace-Eversmann criteria, 27 patients (87.5% had excellent or good results. The mean DASH score was 14 (range 5-36. Overall complication rate was 12.5%. Superficial infection was encountered in two patients. One patient had delayed union, however fracture healed without any additional surgical procedure. One patient who had open grade 3A, comminuted proximal third radius fracture developed radioulnar synostosis. Conclusions: The new design IM interlocking forearm nail provides satisfactory functional and radiological outcomes in the treatment of adult diaphyseal forearm fractures.
Peleg, Smadar; Dar, Gali; Steinberg, Nili; Masharawi, Youssef; Been, Ella; Abbas, Janan; Hershkovitz, Israel
A descriptive study (based on skeletal material) was designed to measure sacral anatomic orientation (SAO) in individuals with and without spondylolysis. To test whether a relationship between SAO and spondylolysis exists. Spondylolysis is a stress fracture in the pars interarticularis (mainly of L5). The natural history of the phenomenon has been debated for years with opinions divided, i.e., is it a developmental condition or a stress fracture phenomenon. There is some evidence to suggest that sacral orientation can be a "key player" in revealing the etiology of spondylolysis. The pelvis was anatomically reconstructed and SAO was measured as the angle created between the intersection of a line running parallel to the superior surface of the sacrum and a line running between the anterior superior iliac spine (ASIS) and the anterior-superior edge of the symphysis pubis (PUBIS).SAO was measured in 99 adult males with spondylolysis and 125 adult males without spondylolysis. The difference between the groups was tested using an unpaired t test. Spondylolysis prevalence is significantly higher in African-Americans compared to European-Americans: 5.4% versus 2.04% in males (P < 0.001) and 2.31% versus 0.4%, P < 0.001 in females. SAO was significantly lower in the spondylolytic group (44.07 degrees +/- 11.46 degrees) compared to the control group (51.07 degrees +/- 8.46 degrees, P < 0.001). A more horizontally oriented sacrum leads to direct impingement on L5 pars interarticularis by both L4 inferior articular facet superiorly and S1 superior articular facet inferiorly. Repetitive stress due to standing (daily activities) or sitting increases the "pincer effect" on this area, and eventually may lead to incomplete synostosis of the neural arch.
Zhao, Jingjing; Yang, Chunbo; Su, Chang; Yu, Min; Zhang, Xiaomin; Huang, Shuo; Li, Gang; Yu, Meili; Li, Xiaorong
Tissue-engineering approach can result in significant bone regeneration. We aimed to reconstruct the segmental orbital rim defects with antigen-free bovine cancellous bone (BCB) scaffolds combined with bone marrow mesenchymal stem cells (BMSCs) in rats. BCB was prepared by degreasing, deproteinization and partly decalcification. BMSCs isolated from green fluorescent protein (GFP) transgenic rats were osteogenically induced and seeded onto BCB scaffolds to construct induced BMSCs/BCB composites. An 8-mm full-thickness defect on the rat inferior-orbit rim was established. Induced BMSCs/BCB composites cultured for 5 days were implanted into the orbital defects as the experimental group. Noninduced BMSCs/BCB group, BCB group and exclusive group were set. General condition, spiral CT, 3D orbital reconstruction, histological and histomorphometric analysis were performed after implantation. BCB presented reticular porous structure. GFP-BMSCs adhering to BCB appeared bright green fluorescence and grew vigorously. Infection and graft dislocation were not observed. In induced BMSCs/BCB group, CT and 3D reconstruction showed perfect orbital repair situation. Histological analysis indicated BCB was mostly biodegraded; newly formed bone and complete synostosis were observed. The percentage of newly formed bone was (57.12 ± 6.28) %. In contrast, more residual BCB, less newly formed bone and nonunion were observed in the noninduced BMSCs/BCB group. Slowly absorbed BCB enwrapped by fibrous connective tissue and a small amount of new bone occurred in BCB group. Fibrous connective tissue appeared in exclusive group. Antigen-free bovine cancellous bone that retains natural bone porous structure and moderate mechanical strength with elimination of antigen is the ideal carrier for mesenchymal stem cells in vitro. BCB combined with BMSCs is a promising composite for tissue engineering, and can effectively reconstruct the orbit rim defects in rats.
Mazzaferro, Daniel M; Naran, Sanjay; Wes, Ari M; Magee, Leanne; Taylor, Jesse A; Bartlett, Scott P
While studies have analyzed quality of life (QOL) in children with non-syndromic craniosynostosis (NSC), to date nobody has investigated long-term QOL in adults with NSC. The purpose of this study is to compare QOL in adult NSC patients with a cohort of unaffected controls. We queried our institution's prospectively maintained craniofacial registry for NSC patients 18 years and older, and administered the validated World Health Organization Quality of Life (WHOQOL-BREF) questionnaire. Responses were compared, using a two-sample t-test, to an age-matched, United States, normative database provided by the World Health Organization (WHO). 151 adults met inclusion criteria: 52 were successfully contacted and 32 completed the WHOQOL-BREF. Average age of respondents was 23.0±6.1 years old (range, 18.1 to 42.1). 12 subjects had metopic synostosis, 15 had unicoronal, and 5 had sagittal. NSC patients had a superior quality of life compared to comparative norms in all domains: physical health (17.8±2.7 vs. 15.5±3.2, p0.05), while all individual subtypes maintained superior or equivalent QOL relative to controls. Demographic variables, Whitaker score, and number of surgical interventions did not correlate with differences in QOL. Adult patients previously treated for NSC perceive their quality of life to be high, superior to that of a normative United States sample. Future work will seek to analyze additional patients and better understand the reasons behind these findings.
Amano, Katsuhiko; Densmore, Michael; Fan, Yi; Lanske, Beate
Digit formation is a process, which requires the proper segmentation, formation and growth of phalangeal bones and is precisely regulated by several important factors. One such factor is Ihh, a gene linked to BDA1 and distal symphalangism in humans. In existing mouse models, mutations in Ihh have been shown to cause multiple synostosis in the digits but lead to perinatal lethality. To better study the exact biological and pathological events which occur in these fused digits, we used a more viable Prx1-Cre;Ihh(fl/fl) model in which Cre recombinase is expressed during mesenchymal condensation in the earliest limb buds at E9.5 dpc and found that mutant digits continuously fuse postnatally until phalanges are finally replaced by an unsegmented "one-stick bone". Mutant mice displayed osteocalcin-positive mature osteoblasts, but had reduced proliferation and abnormal osteogenesis. Because of the close interaction between Ihh and PTHrP during endochondral ossification, we also examined the digits of Prx1-Cre;PTH1R(fl/fl) mice, where the receptor for PTHrP was conditionally deleted. Surprisingly, we found PTH1R deletion caused symphalangism, demonstrating another novel function of PTH1R signaling in digit formation. We characterized the symphalangism process whereby initial cartilaginous fusion prevented epiphyseal growth plate formation, resulting in resorption and replacement of the remaining cartilage by bony tissue. Chondrocyte differentiation displayed abnormal directionality in both mutants. Lastly, Prx1-Cre;Ihh(fl/fl);Jansen Tg mice, in which a constitutively active PTH1R allele was introduced into Ihh mutants, were established to address the possible involvement of PTH1R signaling in Ihh mutant digits. These rescue mice failed to show significantly improved phenotype, suggesting that PTH1R signaling in chondrocytes is not sufficient to restore digit formation. Our results demonstrate that Ihh and PTH1R signaling in limb mesenchyme are both essential to regulate
Trlica, J; Počepcov, I; Kočí, J; Frank, M; Holeček, T; Dědek, T
Presentation of technical experience and the clinical and functional results of intramedullary fixation of forearm shaft fractures. Between January 1994 and December 2009, a total of 96 patients with 144 radial and/or ulnar fractures (ulna, 33; radius,15; both, 48) were treated by nailing (True/Flex®). According to the AO classification there were 22-A, 22-B and 22-C type fractures in 39 (41%), 44 (46%) and 13 (13%).cases, respectively. Of these, 82 (85%) were closed (types: 0, 48; I, 33; II, 1) and 14 (15%) were open (types: I, 13; II, 1; III, 0) fractures. Seventy-eight patients (81%) were followed up and their functional outcomes were evaluated according to the criteria of Anderson et al. The average interval between the operation and final follow-up was 28 months (15 to 96 months) The average time to surgery was 2.2 days (0 to 25 days). Early complications were recorded in 4% of the patients (1x bursitis olecrani; 1x end cup replacement; 1x bending of nails) and late complications in 15% (5x non-union; 2x delay union; 4x bursitis olecrani; 1x ruptured tendon). Bone healing was achieved in 95% of the cases and took on average 16 weeks (7 to 34 weeks). No infection, refracture or synostosis occurred. Primary loss of reduction was recorded in four cases due to distraction in one, bent nails in two and a wrong size of the implant in one; secondary loss of reduction was found in three cases, with two cases of radius shortening and one 10°malrotation. No primary malrotation was recorded, but secondary loss of alignment was seen in the distal part of the radius and the proximal part of the ulna. Functional results according to the Anderson criteria were excellent and good in 87% of the cases. Intramedullary mailing provides good stability to mid- and distal-third shaft fractures of the ulna and mid- and proximalthird shaft fractures of the radius, particularly in AO type A and type B fractures. The technical aspects of the method are analysed in detail in this paper
Taura, Y.; Takeuchi, A.; Uchino, T.
Fore and hind limbs of 4-month-old Holstein-Friesian cattle ♀ (No.I) and those of 1-month-old Holstein-Friesian×Japanese Black cattle ♀ (No.II) suffering from syndactyly were dissected by means of radiographic examinations. The details were reported as follows. 1. The phalanges of both fore and left hind limbs of No.II cattle were completely fused. But, all the phalanges of left fore limb and proximal phalanges of right fore limb in No.I and the distal phalanges of right hind limb in No.II were normal, the others being of partial synostosis. 2. The distal parforating canal was absent in the metacarpus and the right metatarsus in No.II cattle. Also, in No.II on the distal part of the metacarpal or metatarsal, bone vestiges were noted, not only of the fifth and second metacarpus or metatarsus, but also the mutually jointed phalanges. 3. In No.I cattle, the left fore limb and 4 proximal sesamoid bones and 2 distal sesamoid bones, but the right limb had 4 sesamoid bones and 0 distal one. In No.II cattle, the fore limbs had 2 proximal and 0 distal sesamoid bones, left hind limb had 3 proximal and 0 distal ones, right hind limb had 3 proximal and 1 distal ones. 4. The arteries accommodated the syndactylous deformities. The median and radial arteries were fixed to be descended on to the palmar side of the metacarpus and mutually anastomosed to form a deep palmar arch. arising from the deep palmar arch, two branches (palmar proper digital aa. III and IV) were terminated by the lateral and medial palmar surfaces of the digit, where some anastomosing arches were formed by them. The arteries of the hind limbs were also similar to those of the fore limbs. 5. In radiographic examinations of syndactyly (in No.II) after 7-month feeding, hoof and digital bones were noted to have been developed, but distal phalanges were destructed and left in suspicion of bad prognosis
Full Text Available BACKGROUND The anatomical alignment of the bones, the length, the radial bow, and axis should be restored for a good functional outcome. Conservative treatment has resulted in malunion, non-union, synostosis and ultimately poor functional outcome. Internal fixation helps in perfect reduction of fracture fragments in anatomical position by rigid fixation and early mobilisation, the normal functions of the hand can be re-achieved at the earliest. This study has been taken up to evaluate the results of open reduction and internal fixation of the fractures of BBFA with DCP in adults and its advantages and complications. In this study, the rate and time taken for union, the complication, the functional results in terms of forearm rotation and wrist and elbow movements are evaluated. MATERIALS AND METHODS This study includes treatment of 20 cases of fracture of both bones of forearm by open reduction and internal fixation with 3.5 mm DCP from August 2013 to August 2015 at Department of Orthopaedics at Konaseema Institute of Medical Sciences, Amalapuram. Follow-up was done up to September 2015. This is a prospective time bound study. Sample size - 20 patients. Inclusion Criteria- 1. Simple fractures. 2. Open fractures-Gustilo and Anderson type I and type II. 3. Age criteria = 15 to 70 years, both males and females. Exclusion Criteria- 1. Age criteria 0 to 14 years & > 70 years. 2. Radiologically proven segmental fractures and isolated forearm bone fractures. 3. Pathological fracture. 4. Gustilo and Anderson type III. 5. Patient not willing for surgery. 6. Patient unfit for surgery. RESULTS The present study consists of 20 cases of fracture both bones of the forearm. All the cases were openly reduced and internally fixed with 3.5 mm DCP. The study period was from August 2013 to September 2015. The age of these patients ranged from 15-70 years with fracture being most common in 3 rd decade and an average age of 31 years. CONCLUSION Use of separate
The most common neoplasms of the distal radius are primary tumors, of which aneurysmal bone cysts and giant cell tumors are seen almost exclusively. Chondrosarcomas are most commonly located in the pelvis, ribs and proximal segments of the extremities; they rarely occur in forearm bones. Bone defects after distal radial resection can be replaced with bone grafts, both autogenous and allogenic. There is always a risk of failure of the bones to mend or slower synostosis, which necessitates the search for new treatments. Recently, custom-made prostheses have been used with increasing frequency. In early 2015, a 25-year-old male patient was admitted to the Department of Orthopedic Oncology in Brzozów on account of a tumor involving the epiphysis and metaphysis of the right distal radius. Imaging studies confirmed that the lesion was a neoplasm and a biopsy revealed a chondrosarcoma. Radical resection of the tumor was attempted and a custom-made prosthesis was inserted in the place of the bone defect. The prosthesis was designed and manufactured over 4 weeks. No complications occurred during the surgery or in the postoperative period. After the surgery, the forearm and wrist were in a plaster splint for 6 weeks and then rehabilitation was started. The treatment outcome was good. Now, three months after the surgery, the patient has good wrist mobility and efficient grip. Surgical treatment of malignant tumors of the distal radius with extensive bone resection poses the challenge of bone replacement and recovery of fair hand function. Commonly known and practised, reconstructions with autogenous or allogenic bone grafts enable partial restoration of the radiocarpal joint surface and DRUJ. The use of large bone grafts is associated with a risk of non-union and limited hand function even if the grafts are vascularized. Arthrodesis of the radiocarpal joint is currently performed less and less frequently. Custom-made prostheses appear to be a good solution. This method makes
Sharma, D K; Sharma, Deepak; Sharma, Vandana
Atlantooccipital fusion or occipitalization of atlas or assimilation of atlas is a rare or uncommon abnormality recorded in anatomical, morphological and radiological studies. It is usually associated with reduction in dimensions of foramen magnum leading to acute or chronic neurovascular compression and clinical manifestations of varying severity. Though, atlantooccipital fusion is rare but it is important and significant for the physicians and surgeons for their diagnostic and therapeutic approach. To know the prevalence of atlantooccipital fusion in South Asian population predominantly in Central India and its embryological and clinical correlation by reviewing literature and earlier studies. This study included careful examination for the atlantooccipital fusion on total 192 human skulls of both genders, available in the Department of Anatomy AIIMS Raipur, Chhattisgarh, India, Department of Anatomy and Forensic Medicine of Gandhi Medical Colledge, Bhopal, Madhya Pradesh, India and Pt. Jawahar Lal Nehru Memorial Medical College, Raipur. Morphometric measurements of the abnormal skulls were done, analysed and recorded. Observations and findings of this study were correlated embryologically and clinically with the results and claims of previous studies and literature, and accordingly the conclusions were drawn. We found only two skulls with atlantooccipital fusion, in overall study of 192 skulls. The first skull showed incomplete atlantooccipital fusion on the left side with little right lateral inclination and missing posterior tubercle/spinous process and adjoining part of posterior arch of atlas, whereas the second skull showed complete atlantooccipital fusion. We conclude that the prevalence of atlantooccipital fusion including complete and incomplete fusion was 1.04%, which is higher than the proclaimed prevalence rate of 0.12% to 0.72%, by the previous studies. In accordance with the fact that the atlantooccipital fusion represents a synostosis between the
Hui, Clifford A
This study examined furcula (wishbone) shape relative to flight requirements. The furculae from 53 museum specimens in eight orders were measured: 1) three-dimensional shape (SR) as indicated by the ratio of the direct distance between the synostosis interclavicularis and the ligamentous attachment of one of its clavicles to the actual length of the clavicle between those same two points, and 2) curvature within the primary plane (LR) as indicated by the ratio of the length of the clavicle to the sum of the orthogonal distances between the same points using a projected image. Canonical discriminant analysis of these ratios placed the individuals into a) one of four general flight categories and b) one of eight taxonomic orders. The four flight categories were defined as: i) soaring with no flapping, ii) flapping with no soaring, iii) subaqueous (i.e., all wingbeats taking place under water), and iv) partial subaqueous (i.e., wingbeats used for both aerial and submerged flapping). The error rate for placement of the specimens in flight categories was only 26.4%, about half of the error rate for placement in taxonomic orders (51.3%). Subaqueous fliers (penguins, great auks) have furculae that are the most V-shaped. Partial subaqueous fliers (alcids, storm petrels) have furculae that are more U-shaped than the subaqueous fliers but more V-shaped than the aerial flapping fliers. The partial subaqueous fliers have furculae that are also the most anteriorly curved, possibly increasing protraction capability by changing the angle of applied force and increasing attachment area for the origin of the sternobrachialis pectoralis. The increased protraction capability can counteract profile drag, which is greater in water than in air due to the greater density of water. Soaring birds have furculae that are more U-shaped or circular than those of flapping birds and have the smallest range of variation. These results indicate that the shape of the furcula is functionally related