Alagille syndrome: case report with bilateral radio-ulnar synostosis and a literature review

International Nuclear Information System (INIS)

Ryan, R.S.; Munk, P.; Myckatyn, S.O.; Reid, G.D.

2003-01-01

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.)

Comparing Outcomes and Cost of 3 Surgical Treatments for Sagittal Synostosis: A Retrospective Study Including Procedure-Related Cost Analysis.

Science.gov (United States)

Garber, Sarah T; Karsy, Michael; Kestle, John R W; Siddiqi, Faizi; Spanos, Stephen P; Riva-Cambrin, Jay

2017-10-01

Neurosurgical techniques for repair of sagittal synostosis include total cranial vault (TCV) reconstruction, open sagittal strip (OSS) craniectomy, and endoscopic strip (ES) craniectomy. To evaluate outcomes and cost associated with these 3 techniques. Via retrospective chart review with waiver of informed consent, the last consecutive 100 patients with sagittal synostosis who underwent each of the 3 surgical correction techniques before June 30, 2013, were identified. Clinical, operative, and process of care variables and their associated specific charges were analyzed along with overall charge. The study included 300 total patients. ES patients had fewer transfusion requirements (13% vs 83%, P cost savings compared with the TCV reconstruction. The charges were similar to those incurred with OSS craniectomy, but patients had a shorter length of stay and fewer revisions. Copyright © 2017 by the Congress of Neurological Surgeons

Spondylocarpotarsal synostosis syndrome: MRI evaluation of vertebral and disk malformation

International Nuclear Information System (INIS)

Breitling, Magnus; Rabin, Michael; Lemire, Edmond G.

2006-01-01

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.)

Spondylocarpotarsal synostosis syndrome: MRI evaluation of vertebral and disk malformation

Energy Technology Data Exchange (ETDEWEB)

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)

2006-08-15

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.)

Synostosis Between Pubic Bones due to Neurogenic, Heterotopic Ossification

Directory of Open Access Journals (Sweden)

Subramanian Vaidyanathan

2006-01-01

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

Synostosis of proximal phalangeal bases for loss of distal metacarpal

Directory of Open Access Journals (Sweden)

Pankaj Jindal

2016-01-01

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.

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFbeta signaling and cause autosomal dominant spondylocarpotarsal synostosis

NARCIS (Netherlands)

Zieba, J.; Zhang, W.; Chong, J.X.; Forlenza, K.N.; Martin, J.H.; Heard, K.; Grange, D.K.; Butler, M.G.; Kleefstra, T.; Lachman, R.S.; Nickerson, D.; Regnier, M.; Cohn, D.H.; Bamshad, M.; Krakow, D.

2017-01-01

Spondylocarpotarsal synostosis (SCT) is a skeletal disorder characterized by progressive vertebral, carpal and tarsal fusions, and mild short stature. The majority of affected individuals have an autosomal recessive form of SCT and are homozygous or compound heterozygous for nonsense mutations in

Is Postoperative Intensive Care Unit Care Necessary following Cranial Vault Remodeling for Sagittal Synostosis?

Science.gov (United States)

Wolfswinkel, Erik M; Howell, Lori K; Fahradyan, Artur; Azadgoli, Beina; McComb, J Gordon; Urata, Mark M

2017-12-01

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.

Internal Distraction Osteogenesis With Piezosurgery Oblique Osteotomy of Supraorbital Margin of Frontal Bone for the Treatment of Unilateral Coronal Synostosis.

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Shen, Weimin; Cui, Jie; Chen, Jianbing; Ji, Yi; Kong, Liangliang

2017-05-01

To assess the utility of internal distraction osteogenesis with Piezosurgery oblique osteotomy of supraorbital margin of frontal bone for the treatment of unilateral coronal synostosis and to study the outcome and complications of this procedure. Oblique osteotomy allows for entry into the cranial cavity, and along with parallel cut to the roof of the orbit, avoids the need to cut into the orbit which forms the frontal flap. Oblique osteotomy was performed along the supraorbital rim to do a frontal suture of the glabella (ages of patients were less than 1 year) or on the opposite side of the supraorbital rim (ages of patients were older than 1 year) after performing a suturectomy of the effected coronal suture. Two internal distraction devices were subsequently placed across the osteotomized, fused coronal suture. Finally, the cranium pieces were divided in the middle and placed in the middle of the frontal bone using biological glue. Five days after the operation, a 0.6-mm distraction was done twice daily. The distraction was removed 6 months after reaching 2 to 3 cm. Internal distraction osteogenesis with supraorbital oblique osteotomy was performed in 9 patients suffering from unilateral coronal synostosis. Eight patients had no postoperative infections around the shaft puncture wounds. One patient had infection in the rods around the distraction during the period of fixed, but was cured with antibiotic treatment. During a mean follow-up period of 12 months (5-26 months), all patients were satisfied with the cosmetic and functional results. No complications, including fixed screw displacement, penetration of the cranium and dura mater or retraction of distraction devices, occurred. The devices were exposed in 1 patient, resulting in a postoperative scar. Despite these complications, the cranium was successfully expanded in all patients. Use of this procedure avoids the need for frontal osteotomy to move the orbit forward. Adding 2 cranium strips can be used to

Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?

Science.gov (United States)

Accogli, Andrea; Pacetti, Mattia; Fiaschi, Pietro; Pavanello, Marco; Piatelli, Gianluca; Nuzzi, Daniele; Baldi, Maurizia; Tassano, Elisa; Severino, Maria Savina; Allegri, Anna; Capra, Valeria

2015-03-01

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.

Extensive cranioplasty for sagittal synostosis in young children by preserving cranial bone flaps adhered to the dura mater.

Science.gov (United States)

Nan, Bao; Bo, Yang; Yun-Hai, Song; Cheng, Chen; Xiong-Zheng, Mu

2015-03-01

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.

[Extensive cranioplasty for sagittal synostosis in young children by preserving multiple cranial bone flaps adhered to the dura mater: experience with 63 cases].

Science.gov (United States)

Bao Nan; Chu Jun; Wang Xue; Yang, Bo; Song, Yunhai; Cai, Jinjing

2016-01-01

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

The developmental spectrum of proximal radioulnar synostosis

Energy Technology Data Exchange (ETDEWEB)

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)

2010-01-15

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

The value of three-dimensional photogrammetry in isolated sagittal synostosis: Impact of age and surgical technique on intracranial volume and cephalic index─a retrospective cohort study.

Science.gov (United States)

Mertens, Christian; Wessel, Eline; Berger, Moritz; Ristow, Oliver; Hoffmann, Jürgen; Kansy, Katinka; Freudlsperger, Christian; Bächli, Heidrun; Engel, Michael

2017-12-01

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.

Occipital plagiocephaly: deformation or lambdoid synostosis? I. morphometric analysis and results of unilateral lambdoid craniectomy

International Nuclear Information System (INIS)

Dias, M.S.; Klein, D.M.; Backstrom, J.W.

1997-01-01

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)

Disease: H00499 [KEGG MEDICUS

Lifescience Database Archive (English)

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 ...

Craniofacial morphology in Muenke syndrome

DEFF Research Database (Denmark)

Keller, Mette Kirstine; Hermann, Nuno V; Darvann, Tron A

2007-01-01

corresponding to bone was created for each individual. The sutures were inspected for synostosis, and the degree of synostosis was assessed. Increased digital markings were recorded for both groups. Craniofacial morphology was assessed quantitatively using bony landmarks and recording of the midsagittal surface...

Cranial suture biology of the Aleutian Island inhabitants.

Science.gov (United States)

Cray, James; Mooney, Mark P; Siegel, Michael I

2011-04-01

Research on cranial suture biology suggests there is biological and taxonomic information to be garnered from the heritable pattern of suture synostosis. Suture synostosis along with brain growth patterns, diet, and biomechanical forces influence phenotypic variability in cranial vault morphology. This study was designed to determine the pattern of ectocranial suture synostosis in skeletal populations from the Aleutian Islands. We address the hypothesis that ectocranial suture synostosis pattern will differ according to cranial vault shape. Ales Hrdlicka identified two phenotypes in remains excavated from the Aleutian Island. The Paleo-Aleutians, exhibiting a dolichocranic phenotype with little prognathism linked to artifacts distinguished from later inhabitants, Aleutians, who exhibited a brachycranic phenotype with a greater amount of prognathism. A total of 212 crania representing Paleo-Aleuts and Aleutian as defined by Hrdlicka were investigated for suture synostosis pattern following standard methodologies. Comparisons were performed using Guttmann analyses. Results revealed similar suture fusion patterns for the Paleo-Aleut and Aleutian, a strong anterior to posterior pattern of suture fusion for the lateral-anterior suture sites, and a pattern of early termination at the sagittal suture sites for the vault. These patterns were found to differ from that reported in the literature. Because these two populations with distinct cranial shapes exhibit similar patterns of suture synostosis it appears pattern is independent of cranial shape in these populations of Homo sapiens. These findings suggest that suture fusion patterns may be population dependent and that a standardized methodology, using suture fusion to determine age-at-death, may not be applicable to all populations. Copyright © 2011 Wiley-Liss, Inc.

Ellipsoid analysis of calvarial shape.

Science.gov (United States)

Jacobsen, Petra A; Becker, Devra; Govier, Daniel P; Krantz, Steven G; Kane, Alex

2009-09-01

The purpose of this research was to develop a novel quantitative method of describing calvarial shape by using ellipsoid geometry. The pilot application of Ellipsoid Analysis was to compare calvarial form among individuals with untreated unilateral coronal synostosis, metopic synostosis, and sagittal synostosis and normal subjects. The frontal, parietal, and occipital bones of 10 preoperative patients for each of the four study groups were bilaterally segmented into six regions using three-dimensional skull reconstructions generated by ANALYZE imaging software from high-resolution computed tomography scans. Points along each segment were extracted and manipulated using a MATLAB-based program. The points were fit to the least-squares nearest ellipsoid. Relationships between the six resultant right and left frontal, parietal, and occipital ellipsoidal centroids (FR, FL, PR, PL, OR, and OL, respectively) were tested for association with a synostotic group. Results from the pilot study showed meaningful differences between length ratio, angular, and centroid distance relationships among synostotic groups. The most substantial difference was exhibited in the centroid distance PL-PR between patients with sagittal synostosis and metopic synostosis. The measures most commonly significant were centroid distances FL-PR and FL-PL and the angle OR-FR-PR. Derived centroid relationships were reproducible. Ellipsoid Analysis may offer a more refined approach to quantitative analysis of cranial shape. Symmetric and asymmetric forms can be compared directly. Relevant shape information between traditional landmarks is characterized. These techniques may have wider applicability in quantifying craniofacial morphology with increase in both specificity and general applicability over current methods.

Radiological assessment of skull base changes in children with syndromic craniosynostosis: role of ''minor'' sutures

International Nuclear Information System (INIS)

Calandrelli, Rosalinda; D'Apolito, Gabriella; Gaudino, Simona; Stefanetti, Mariangela; Colosimo, Cesare; Massimi, Luca; Di Rocco, Concezio

2014-01-01

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.)

Anthropometric outcome of sagittal craniosynostosis following surgery

International Nuclear Information System (INIS)

Takagi, Toshinori; Morota, Nobuhito; Ihara, Satoshi; Kaneko, Tsuyoshi

2011-01-01

Several studies have shown good short-term outcomes after surgery for sagittal synostosis. However, the improvement in head shape usually regresses over the long term. The aim of this study was to compare anthropometric changes after surgery between osteoplastic expansion surgery and distraction osteogenesis for correcting sagittal synostosis. From November 2002 through December 2008, 17 patients with sagittal synostosis were analyzed. Anthropometric changes were assessed with cephalic indices obtained with computed tomography of the skull. The age of the patients at the time of surgery ranged from 2 to 25 months (mean, 8.2 months), and the follow-up period ranged from 6 to 63 months (mean, 17 months). In 16 patients, the cephalic index showed improvement immediately after surgery but gradually decreased in the follow-up period. The improving rate was decreased more after osteoplastic expansion surgery than after distraction osteogenesis (p<0.01). Although long-term follow-up is necessary, morphological improvement persists to a greater degree after distraction surgery. (author)

Radiological assessment of skull base changes in children with syndromic craniosynostosis: role of ''minor'' sutures

Energy Technology Data Exchange (ETDEWEB)

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)

2014-10-15

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.)

The fourth dimension in simulation surgery for craniofacial surgical procedures.

Science.gov (United States)

Kurihara, T

2001-03-01

The intracranial volume was measured in all 18 cases of craniosynostosis and craniofacial synostosis with 3DCT using a modification of Miyake's formula, with a 6 years' follow-up. 1: There were no cases where the intracranial volume was less than the modified Miyake's formula. 2: Total cranial reshaping, compared to the local forehead advancement, was effective in increasing the intracranial cavity and growth postoperatively. 3: In cases of craniofacial synostosis, there is a possibility that mental retardation will develop if the intracranial volume tends to increase rapidly and more than expected.

The Role of Preoperative Imaging in the Management of Nonsyndromic Lambdoid Craniosynostosis.

Science.gov (United States)

Ranganathan, Kavitha; Rampazzo, Antonio; Hashmi, Asra; Muraszko, Karin; Strahle, Jennifer; Vercler, Christian J; Buchman, Steven R

2018-01-01

The necessity of imaging for patients with craniosynostosis is controversial. Lambdoid synostosis is known to be associated with additional anomalies, but the role of imaging in this setting has not been established. The purpose of this study was to evaluate the impact of preoperative imaging on intraoperative and postoperative management among patients undergoing operative intervention for lambdoid craniosynostosis. A retrospective review of patients undergoing cranial vault remodeling for lambdoid craniosynostosis between January 2006 and 2014 was conducted. Patient demographics, age at computed tomography scan, age at surgery, results of the radiologic evaluation, operative technique, and modification of the diagnosis following the radiologic studies were analyzed. A pediatric neuroradiology and the surgical team interpreted the radiographs. The primary outcome was change in intraoperative or postoperative management based on imaging results. A total of 11 patients were diagnosed with lambdoid synostosis. Of these patients, 81.8% had abnormalities on imaging relevant to operative planning. The most common anomalies were Chiari I malformation (45%) and venous anomalies of the posterior fossa (36%). Preoperative imaging altered the management of 9 (81.8%) patients. Closer follow-up was required for 6 patients (54%). Suboccipital decompression was performed in 4 patients (36%). Venous anomalies were found in 4 patients (36%). The diagnosis was changed from positional plagiocephaly to lambdoid synostosis in 2 patients (18%). Given the frequency and significance of radiographic abnormalities in the setting of lamboid synostosis, preoperative imaging should be considered during the operative planning phase as it can affect postoperative and intraoperative management.

Genetics Home Reference: Bohring-Opitz syndrome

Science.gov (United States)

... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke: Microcephaly Information Page Educational Resources (9 links) Boston Children's Hospital: Metopic Synostosis (Trigonocephaly) Symptoms & Causes Centers for ...

Analysis of Craniofacial Images using Computational Atlases and Deformation Fields

DEFF Research Database (Denmark)

Ólafsdóttir, Hildur

2008-01-01

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...

FGFR2c-mediated ERK-MAPK activity regulates coronal suture development

Science.gov (United States)

Pfaff, Miles J.; Xue, Ke; Li, Li; Horowitz, Mark C.; Steinbacher, Derek M.; Eswarakumar, Jacob V.P.

2017-01-01

Fibroblast growth factor receptor 2 (FGFR2) signaling is critical for proper craniofacial development. A gain-of-function mutation in the 2c splice variant of the receptor’s gene is associated with Crouzon syndrome, which is characterized by craniosynostosis, the premature fusion of one or more of the cranial vault sutures, leading to craniofacial maldevelopment. Insight into the molecular mechanism of craniosynostosis has identified the ERK-MAPK signaling cascade as a critical regulator of suture patency. The aim of this study is to investigate the role of FGFR2c-induced ERK-MAPK activation in the regulation of coronal suture development. Loss-of-function and gain-of-function Fgfr2c mutant mice have overlapping phenotypes, including coronal synostosis and craniofacial dysmorphia. In vivo analysis of coronal sutures in loss-of-function and gain-of-function models demonstrated fundamentally different pathogenesis underlying coronal suture synostosis. Calvarial osteoblasts from gain-of-function mice demonstrated enhanced osteoblastic function and maturation with concomitant increase in ERK-MAPK activation. In vitro inhibition with the ERK protein inhibitor U0126 mitigated ERK protein activation levels with a concomitant reduction in alkaline phosphatase activity. This study identifies FGFR2c-mediated ERK-MAPK signaling as a key mediator of craniofacial growth and coronal suture development. Furthermore, our results solve the apparent paradox between loss-of-function and gain-of-function FGFR2c mutants with respect to coronal suture synostosis. PMID:27034231

Timing of ectocranial suture activity in Gorilla gorilla as related to cranial volume and dental eruption.

Science.gov (United States)

Cray, James; Cooper, Gregory M; Mooney, Mark P; Siegel, Michael I

2011-05-01

Research has shown that Pan and Homo have similar ectocranial suture synostosis patterns and a similar suture ontogeny (relative timing of suture fusion during the species ontogeny). This ontogeny includes patency during and after neurocranial expansion with a delayed bony response associated with adaptation to biomechanical forces generated by mastication. Here we investigate these relationships for Gorilla by examining the association among ectocranial suture morphology, cranial volume (as a proxy for neurocranial expansion) and dental development (as a proxy for the length of time that it has been masticating hard foods and exerting such strains on the cranial vault) in a large sample of Gorilla gorilla skulls. Two-hundred and fifty-five Gorilla gorilla skulls were examined for ectocranial suture closure status, cranial volume and dental eruption. Regression models were calculated for cranial volumes by suture activity, and Kendall's tau (a non-parametric measure of association) was calculated for dental eruption status by suture activity. Results suggest that, as reported for Pan and Homo, neurocranial expansion precedes suture synostosis activity. Here, Gorilla was shown to have a strong relationship between dental development and suture activity (synostosis). These data are suggestive of suture fusion extending further into ontogeny than brain expansion, similar to Homo and Pan. This finding allows for the possibility that masticatory forces influence ectocranial suture morphology. © 2011 The Authors. Journal of Anatomy © 2011 Anatomical Society of Great Britain and Ireland.

Achondroplasia with multiple-suture craniosynostosis: a report of a new case of this rare association

NARCIS (Netherlands)

Bessenyei, Beáta; Nagy, Andrea; Balogh, Erzsébet; Novák, László; Bognár, László; Knegt, Alida C.; Oláh, Eva

2013-01-01

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

Opitz C syndrome: Trigonocephaly, mental retardation and ...

African Journals Online (AJOL)

J.A. Avina Fierro

2015-06-09

Jun 9, 2015 ... metopic suture, but also can be distinguished the other minor facial anomalies that are found in ... synostosis in the metopic suture, it is a triangular shaped ..... ily, cause a form of the C (Opitz trigonocephaly) syndrome. Am J.

75 FR 39698 - Eunice Kennedy Shriver National Institute of Child Health and Human Development; Notice of Closed...

Science.gov (United States)

2010-07-12

... 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...

Bone Gap Management Using Linear Rail System (LRS): Initial ...

African Journals Online (AJOL)

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 ...

Custom made orthotic device for maintaining skull architecture during the postoperative period in infants undergoing craniosynostosis surgery

Science.gov (United States)

Gopal, Venu; Ganesh, Praveen; Nagarjuna, Muralidhara; Kumar, Kiran; Shetty, Samarth; Salins, Paul C.

2015-01-01

Aim To fabricate a cost effective, indigenous and simple orthotics helmet for post-operative cranial molding in patients with craniosynostosis surgery. Methods We present a case of 15 month old infant with secondary cranial vault deformity. Cranial vault remodeling surgery involving the posterior skull was planned and executed to increase the posterior gap, so that brain growth would be facilitated towards this empty space. Materials such as thermoplastic sponge, thermoplastic ionomer resin sheet, soft sponge and Velcro straps are used to fabricate a cranial orthotics helmet. Results We have successfully used the above materials to fabricate the orthotics helmet for post-operative cranial molding. Conclusion The technique described in this article is simple and cost effective. It can be custom made according to the demands of the surgical technique and the type of synostosis. It favors an individualistic prognosis, and proves worthwhile as every synostosis requires a unique treatment plan. It is an excellent adjuvant to craniosynostosis remodeling surgery. PMID:26258018

The Antley-Bixler syndrome: two new cases.

Directory of Open Access Journals (Sweden)

Hosalkar H

2001-10-01

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.

2329-IJBCS-Article-Dr o Owoeye Tunde

African Journals Online (AJOL)

hp

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.

A previously unreported variant of the synostotic sagittal suture: Case report and review of salient literature

Directory of Open Access Journals (Sweden)

Madison Budinich

2016-12-01

Full Text Available Introduction: Sagittal synostosis is a rare congenital disease caused by the premature fusion of the sagittal suture. Craniosynostosis occurs for a variety of reasons, different for every case, and often the etiology is unclear but the anomaly can frequently be seen as part of Crouzon's or Apert's syndromes. Herein, we discuss a rare case of craniosynostosis where the patient presented with a, to our knowledge, a previously undescribed variant of sagittal synostosis. Case report: A 3-month-old female infant presented to a craniofacial clinic for a consultation regarding an abnormal head shape. Images of the skull were performed, demonstrating that the patient had craniosynostosis. The patient displayed no other significant symptoms besides abnormalities in head shape. The sagittal suture was found to extend into the occipital bone where it was synostotic. Conclusion: To our knowledge, a synostotic sagittal suture has not been reported that extended posteriorly it involve the occipital bone. Those who interpret imaging or operate on this part of the skull should consider such a variation. Keywords: Anatomy, Craniosynostosis, Skull, Malformation, Pediatrics

Concurrent lumbosacral and sacrococcygeal fusion; a rare etiology of low back pain and coccygodynia?

Science.gov (United States)

Kapetanakis, Stylianos; Gkasdaris, Grigorios; Pavlidis, Pavlos; Givissis, Panagiotis

2017-09-21

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.

Subtalar coalition: usefulness of the C sign on lateral radiographs of the ankle

International Nuclear Information System (INIS)

Kim, Seong Hyun; Ahn, Joong Mo; Lee, Min Hee; Yoon, Hye Kyung; Kim, Sung Moon; Shin, Myung Jin; Kang, Heung Sik

2001-01-01

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

[Osteotomies for treating developmental disorders of the neurocranium and visceral cranium].

Science.gov (United States)

Mühling, J

1991-02-01

Craniofacial deformities are primarily caused by premature synostosis of cranial sutures. Depending on the involved sutures, typical deformities of the neuro- and visceral cranium are produced. They result in severe functional and aesthetic disturbances. Several osteotomies, which do not only make an aesthetic improvement possible but a correction of severe malfunction, are available for therapy. Preoperative planning and postoperative treatment require the combination of orthodontics and maxillofacial surgery.

A rare case of short stature: Say Meyer syndrome.

Science.gov (United States)

Karthik, T S; Prasad, N Rajendra; Rani, P Radha; Maheshwari, Rushikesh; Reddy, P Amaresh; Chakradhar, B V S; Menon, Bindu

2013-10-01

Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3½ years. A 3½-year-old boy presented to our hospital for decreased growth velocity from the age of 1 year. History revealed the boy had a birth weight of 2.3 kg, had an episode of seizures in the neonatal period. He was born to non-consanguineous marriage. He had global developmental delay and there was a lack of bowel and bladder control. History did not reveal any hearing or visual impairment. No history of any chronic systemic illnesses. Magnetic resonance imaging (MRI) brain revealed mild diffuse frontotemporal atrophy with multiple irregular gliotic areas in bilateral frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres. Diffuse thinning of corpus callosum. Diffuse periventricular hyper intensity on T2W and fluid attenuated inversion recovery sequences. Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. Characteristic MRI brain findings include diffuse frontotemporal atrophy with multiple gliotic areas in frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres.

The morphogenesis of wormian bones: a study of craniosynostosis and purposeful cranial deformation.

Science.gov (United States)

Sanchez-Lara, Pedro A; Graham, John M; Hing, Anne V; Lee, John; Cunningham, Michael

2007-12-15

Wormian bones are accessory bones that occur within cranial suture and fontanelles, most commonly within the posterior sutures. They occur more frequently in disorders that have reduced cranial ossification, hypotonia or decreased movement, thereby resulting in deformational brachycephaly. The frequency and location of wormian bones varies with the type and severity of cranial deformation practiced by ancient cultures. We considered the hypothesis that the pathogenesis of wormian bones may be due to environmental variations in dural strain within open sutures and fontanelles. In order to explore this further, we measured the cephalic index (CI) in 20 purposefully deformed pre-Columbian skulls: 10 from Chichen Itza, Mexico, and 10 from Ancon, Peru, as well as 20 anatomically normal skulls used for medical school anatomy classes. We tested for a direct correlation between the CI and the number of wormian bones in skulls with varying degrees of brachycephalic cranial deformation and found no significant correlation. When the CI was grouped into three categories (normal (CI 93)) there was a trend toward increasing number of wormian bones as the skull became more brachycephalic (P = 0.039). A second part or our study tabulated the frequency and location of large wormian bones (greater than 1 cm) in 3-dimentional computerized tomography (3D-CT) scans from 207 cases of craniosynostosis and compared these data with published data on 485 normal dry skulls from a manuscript on wormian bones by Parker in 1905. Among cases of craniosynostosis, large wormian bones were significantly more frequent (117 out of 207 3D-CT scans) than in dry skulls (131 out of 485). There was a 3.5 greater odds of developing a wormian bone with premature suture closure (P < 0.001). Midline synostosis, specifically metopic or sagittal synostosis, has more wormian bones in the midline, whereas unilateral lambdoidal or coronal synostosis more often had wormian bones on the contralateral side. Taken

The earliest evidence of true lambdoid craniosynostosis: the case of "Benjamina", a Homo heidelbergensis child.

Science.gov (United States)

Gracia, Ana; Martínez-Lage, Juan F; Arsuaga, Juan-Luis; Martínez, Ignacio; Lorenzo, Carlos; Pérez-Espejo, Miguel-Angel

2010-06-01

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.

A rare case of short stature: Say Meyer syndrome

Directory of Open Access Journals (Sweden)

T S Karthik

2013-01-01

Full Text Available Introduction: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3½ years. Case Report: A 3½-year-old boy presented to our hospital for decreased growth velocity from the age of 1 year. History revealed the boy had a birth weight of 2.3 kg, had an episode of seizures in the neonatal period. He was born to non-consanguineous marriage. He had global developmental delay and there was a lack of bowel and bladder control. History did not reveal any hearing or visual impairment. No history of any chronic systemic illnesses. Magnetic resonance imaging (MRI brain revealed mild diffuse frontotemporal atrophy with multiple irregular gliotic areas in bilateral frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres. Diffuse thinning of corpus callosum. Diffuse periventricular hyper intensity on T2W and fluid attenuated inversion recovery sequences. Conclusion: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. Characteristic MRI brain findings include diffuse frontotemporal atrophy with multiple gliotic areas in frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres.

Molecular Analysis of Gli3, Ihh, Rab23, and Jag1 in a Rabbit Model of Craniosynostosis: Likely Exclusion as the Loci of Origin.

Science.gov (United States)

Gilbert, James R; Taylor, Gwen M; Losee, Joseph E; Mooney, Mark P; Cooper, Gregory M

2018-03-01

Craniosynostosis (CS) involves the premature fusion of one or more cranial sutures. The etiology of CS is complex and mutations in more than 50 distinct genes have been causally linked to the disorder. Many of the genes that have been associated with CS in humans play an essential role in tissue patterning and early craniofacial development. Among these genes are members of the Hedgehog (HH) and Notch signal transduction pathways, including the GLI family member Gli3, Indian Hedgehog ( Ihh), the RAS oncogene family member Rab23, and the Notch ligand JAGGED1 ( Jag1). We have previously described a colony of rabbits with a heritable pattern of coronal suture synostosis, although the genetic basis for synostosis within this model remains unknown. The present study was performed to determine if coding errors in Gli3, Ihh, Rab23, or Jag1 could be causally linked to craniosynostosis in this unique animal model. Sequencing of cDNA templates was performed using samples obtained from wild-type and craniosynostotic rabbits. Several nucleotide polymorphisms were identified in Gli3, Ihh, and Rab23, although these variants failed to segregate by phenotype. No nucleotide polymorphisms were identified in Jag1. These data indicate that the causal locus for heritable craniosynostosis in this rabbit model is not located within the protein coding regions of Gli3, Ihh, Rab23, or Jag1.

Fronto-Orbital Advancement and Total Calvarial Remodelling for Craniosynostosis

International Nuclear Information System (INIS)

Haq, E. U.; Aman, S.; Tammimy, M. S.; Ahmad, R. S.

2014-01-01

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)

A 48,XXXX female with absence of ovaries.

Science.gov (United States)

Collen, R J; Falk, R E; Lippe, B M; Kaplan, S A

1980-01-01

A 16 1/2-year-old phenotypic female had primary amenorrhea, mild mental retardation, radioulnar synostosis, and other minor anomalies. Chromosome constitution of leukocytes and skin fibroblasts was 48,XXXX. Plasma levels of gonadotropins were increased, and those of estrogens, decreased consistent with ovarian failure. Laparoscopy showed a small midline uterus, and 2 fallopian tubes, and fimbriae. Neither ovaries nor gonadal streaks were seen on either side. This patient appears to represent the first instance of 48,XXXX aneuploidy with documented absence of ovaries.

Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients.

Science.gov (United States)

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

2006-03-01

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.

Craniosynostosis of coronal suture in Twist1+/- mice occurs through endochondral ossification recapitulating the physiological closure of posterior frontal suture

Directory of Open Access Journals (Sweden)

Bjorn eBehr

2011-07-01

Full Text Available Craniosynostosis, the premature closure of cranial suture, is a pathologic condition that affects 1/2000 live births. Saethre-Chotzen syndrome is a genetic condition characterized by craniosynostosis. The Saethre-Chotzen syndrome, which is defined by loss-of-function mutations in the TWIST gene, is the second most prevalent craniosynostosis. Although much of the genetics and phenotypes in craniosynostosis syndromes is understood, less is known about the underlying ossification mechanism during suture closure. We have previously demonstrated that physiological closure of the posterior frontal (PF suture occurs through endochondral ossification. Moreover, we revealed that antagonizing canonical Wnt signaling in the sagittal suture leads to endochondral ossification of the suture mesenchyme and sagittal synostosis, presumably by inhibiting Twist1. Classic Saethre-Chotzen syndrome is characterized by coronal synostosis, and the haploinsufficient Twist1+/- mice represents a suitable model for studying this syndrome. Thus, we seeked to understand the underlying ossification process in coronal craniosynostosis in Twist1+/- mice. Our data indicate that coronal suture closure in Twist1+/- mice occurs between postnatal day 9 to 13 by endochondral ossification, as shown by histology, gene expression analysis and immunohistochemistry. In conclusion, this study reveals that coronal craniosynostosis in Twist1+/- mice occurs through endochondral ossification. Moreover, it suggests that haploinsufficency of Twist1 gene, a target of canonical Wnt-signaling, and inhibitor of chondrogenesis, mimics conditions of inactive canonical Wnt-signaling leading to craniosynostosis.

Parental perception of treatment and medical care in children with craniosynostosis.

Science.gov (United States)

Kluba, S; Rohleder, S; Wolff, M; Haas-Lude, K; Schuhmann, M U; Will, B E; Reinert, S; Krimmel, M

2016-11-01

Surgery for craniosynostosis implies a relevant strain on the child and the parents. The development of the child's self-perception and self-confidence is mainly influenced by parental attitudes. The outcomes of 46 patients were analysed, taking into consideration parental perceptions. Parents were asked to indicate their satisfaction with the medical care and treatment provided using a questionnaire. Aesthetics were evaluated by the parents and doctors using a score (1=perfect, 5=deficient). Major surgical complications (2.2%) were reported only in the case of complex synostosis. Reoperation was necessary in 2.9% of isolated cases and 45.5% of complex cases. In general, parents were satisfied with the medical (1.3) and nursing (1.6) inpatient care. Aesthetic assessments differed between parents and surgeons, although not significantly (P=0.27). The surgeons perceived the results to be better than the parents, especially for complex synostosis (1.3 vs. 2.7). Alopecia and persistent asymmetry led to a worse perception of aesthetics. Persistent bone defects did not influence parental satisfaction. All participating parents would opt for surgery again. Surgery led to satisfactory results with a low risk of severe complications. Nevertheless, the outcomes and limits of the surgical procedure must be communicated effectively to parents, especially in complex cases, to avoid a mismatch in expectations. It would be desirable to implement structured interviews with parents during regular treatment management. Copyright © 2016 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

Technetium-99m scintigraphy associated with spondylolysis of the lumbar spine in children

International Nuclear Information System (INIS)

Kubota, Wataru; Sudo, Nariomi; Nakazima, Kiyonori; Nakamura, Mitsutaka

1987-01-01

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.)

Technetium-99m scintigraphy associated with spondylolysis of the lumbar spine in children

Energy Technology Data Exchange (ETDEWEB)

Kubota, W.; Sudo, N.; Nakazima, K.; Nakamura, M.

1987-02-01

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.

A rare case of short stature: Say Meyer syndrome

OpenAIRE

Karthik, T. S.; Prasad, N. Rajendra; Rani, P. Radha; Maheshwari, Rushikesh; Reddy, P. Amaresh; Chakradhar, B. V. S.; Menon, Bindu

2013-01-01

Introduction: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3½ years. Case Report: A 3½-year-old boy presented to our hospital for decreased growth velocity from the age of 1 year. History revealed the boy had a birth weight of 2.3 kg, had an episode of seizures in the neonatal period. He was...

Quantitative approach to the posterior cranial fossa and craniocervical junction in asymptomatic children with achondroplasia

Energy Technology Data Exchange (ETDEWEB)

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)

2017-10-15

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.)

Quantitative approach to the posterior cranial fossa and craniocervical junction in asymptomatic children with achondroplasia

International Nuclear Information System (INIS)

Calandrelli, Rosalinda; Panfili, Marco; D'Apolito, Gabriella; Pedicelli, Alessandro; Colosimo, Cesare; Zampino, Giuseppe; Pilato, Fabio

2017-01-01

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.)

postraumatic tibiofibula synostosis of the distal 1/3 of the leg

African Journals Online (AJOL)

DR. AMINU

limbs from the hip, and disjoint each by the knee and the ankle joints for maceration and ... that the fractures of the tibia and fibula and a severe hematoma around the interosseous ... four years after the injury but within that period he suffered ...

Clinicoroentgenological semiotics of chondroectodermal dysplasia (Ellis-van Creveld syndrome)

International Nuclear Information System (INIS)

Prokopenko, O.P.

1989-01-01

The paper is devoted to the description of a rare hereditary systemic skeletal disease-chondroectodermal dysplasia (CED). The clinical symptoms of CED are divided into 4 grupus. On the basis of 2 cases, symptoms of the affection of the locomotor system in patients with Ellis-van-Creveld syndrome are analyzed. An X-ray picture of hand and foot lesions is characterized not only by change in the shape, size, number and synostosis of some bones but also by marked reorganization of osseous tissue in the epimetaphysial regions. X-ray examination was shown to be the chief method for investigation of the osseous system

The articulations of the neurocranium in the postnatal skeleton of the domestic fowl (Gallus gallus domesticus).

Science.gov (United States)

Hogg, D A

1978-09-01

In the neurocranium of the domestic fowl the centres of ossification present at hatching and appearing susbequently have been investigated and illustrated. The controversy over centres around the orbit is reviewed and it is concluded that paired laterally placed pleurosphenoids are present by the time of hatching, while paired orbitosphenoids situated near the midline and dorsal to the optic foramen do not appear until between 70 and 91 days after hatching. No additional "presphenoid" centres were detected. The neurocranial articulations were studied: 27, many of them paired, were identified. The sequence and timing of synostosis were determined.

A report of two cases of Al-Awadi Raas-Rothschild syndrome (AARRS) supporting that "apparent" Phocomelia differentiates AARRS from Schinzel Phocomelia syndrome (SPS).

Science.gov (United States)

AlQattan, Mohammad M; AlAbdulkareem, Ibrahim; Ballow, Mariam; Al Balwi, Mohammed

2013-09-15

Although there is a long list of syndromes with phocomelia, there are only two syndromes in which there is concurrent pelvic dysplasia and phocomelia: Al-Awadi-Raas-Rothschild syndrome (AARRS) and Schinzel phocomelia syndrome (SPS). Currently, there is a diagnostic confusion between the two syndromes and both have the same MIM entry (MIM 276820). We believe that the two syndromes are different entities and we also believe that the limb defect in SPS is a "true" phocomelia while the limb defect in AARRS is an "apparent" phocomelia. "Apparent" phocomelia describes the most severe form of ulnar ray deficiency in which there is absent ulna with radio-humeral synostosis. "Apparent" phocomelia is diagnosed radiologically by three radiological features: the apparently single bone occupying the arm/forearm appears relatively long, the area of radio-humeral synostosis will have thicker cortex with or without slight angulation, and the lower end of the bone resembles the lower end of a radius and not a humerus. In this paper, we present two new cases of AARRS from two different Saudi Arabian tribes: one case with R292C mutation of WNT7A with bilateral "apparent" phocomelia and a second case with a novel c.814G>T mutation of the WNT7A gene (resulting in wnt7a protein truncation at position 272) with unilateral "apparent" phocomelia. We reviewed previously reported cases of AARRS and SPS to further delineate the differences between these two syndromes. We make the argument that these two syndromes are two different entities and hence require two different MIM entries. Copyright © 2013 Elsevier B.V. All rights reserved.

Three-Dimensional post-myelographic CT reconstruction in the diagnosis and therapy planning for spinal development disorders; Dreidimensionale postmyelographische CT-Rekonstruktion in der Diagnostik und Therapieplanung spinaler Entwicklungsstoerungen

Energy Technology Data Exchange (ETDEWEB)

Wicht, L. [Strahlenklinik und Poliklinik, Virchow Klinikum, Humboldt-Univ. zu Berlin (Germany); Schedel, H. [Strahlenklinik und Poliklinik, Virchow Klinikum, Humboldt-Univ. zu Berlin (Germany); Benndorf, G. [Strahlenklinik und Poliklinik, Virchow Klinikum, Humboldt-Univ. zu Berlin (Germany); Beier, J. [Strahlenklinik und Poliklinik, Virchow Klinikum, Humboldt-Univ. zu Berlin (Germany); Haberl, H. [Neurochirurgische Abt., Virchow-Klinikum, Humboldt-Univ. zu Berlin (Germany); Felix, R. [Strahlenklinik und Poliklinik, Virchow Klinikum, Humboldt-Univ. zu Berlin (Germany)

1996-05-01

Dysrhaphia is often associated with severe osseous aberrations of the spine such as, for example scoliosis, hemivertebra, and synostosis. With the advanced possibilities of the post-processing of CT-data (segmentation, three-dimensional reconstruction), post-myelo-CT is an excellent method for the evaluation of osseous structures and the myelon in preoperative planning. (orig.) [Deutsch] Dysraphien gehen haeufig mit ausgepraegten ossaeren Veraenderungen der Wirbelsaeule wie Skoliose, Halbwirbelbildungen und Synostosen einher. Mit den verbesserten Moeglichkeiten der Datennachbearbeitung (Segmentierung, 3D-dimensionale Rekonstruktion) stellt die postmyelographische Computertomographie vor allem bei komplexen Fehlbildungen ein geeignetes Verfahren zur praeoperativen Beurteilung der ossaeren Strukturen der Wirbelsaeule und des Myelons dar. (orig.)

Distal tibiofibular synostosis after ankle fracture. A 14-year follow-up study

NARCIS (Netherlands)

Albers, G. H.; de Kort, A. F.; Middendorf, P. R.; van Dijk, C. N.

1996-01-01

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

A critical evaluation of long-term aesthetic outcomes of fronto-orbital advancement and cranial vault remodeling in nonsyndromic unicoronal craniosynostosis.

Science.gov (United States)

Taylor, Jesse A; Paliga, J Thomas; Wes, Ari M; Tahiri, Youssef; Goldstein, Jesse A; Whitaker, Linton A; Bartlett, Scott P

2015-01-01

This study reports long-term aesthetic outcomes with fronto-orbital advancement and cranial vault remodeling in treating unicoronal synostosis over a 35-year period. Retrospective review was performed on patients with isolated unicoronal synostosis from 1977 to 2012. Demographic, preoperative phenotypic, and long-term aesthetic outcomes data were analyzed with chi-squared and Fisher's exact test for categorical data and Wilcoxon rank-sum and Kruskal-Wallis rank for continuous data. A total of 238 patients were treated; 207 met inclusion criteria. None underwent secondary intervention for intracranial pressure. At definitive intervention, there 96 (55 percent) Whitaker class I patients, 11 (6 percent) class II, 62 (35 percent) class III, and six (3 percent) class IV. Nasal root deviation and occipital bossing each conferred an increased risk of Whitaker class III/IV [OR, 4.4 (1.4 to 13.9), p = 0.011; OR, 2.6 (1.0 to 6.8), p = 0.049]. Patients who underwent bilateral cranial vault remodeling with extended unilateral bandeau were less likely Whitaker class III/IV at latest follow-up compared with those undergoing strictly unilateral procedures [OR, 0.2 (0.1 to 0.7), p = 0.011]. Overcorrection resulted in decreased risk of temporal hollowing [OR, 0.3 (0.1 to 1.0), p = 0.05]. Patients with 5 years or more of follow-up were more likely to develop supraorbital retrusion [OR, 7.2 (2.2 to 23.4), p = 0.001] and temporal hollowing [OR, 3.7 (1.5 to 9.6), p = 0.006] and have Whitaker class III/IV outcomes [OR, 4.9 (1.8 to 12.8), p = 0.001]. Traditional fronto-orbital advancement and cranial vault remodeling appears to mitigate risk of intracranial pressure but may lead to aesthetic shortcomings as patients mature, namely fronto-orbital retrusion and temporal hollowing. Therapeutic, IV.

Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.

Science.gov (United States)

Ritelli, Marco; Dordoni, Chiara; Cinquina, Valeria; Venturini, Marina; Calzavara-Pinton, Piergiacomo; Colombi, Marina

2017-09-07

Spondylodysplastic EDS (spEDS) is a rare connective tissue disorder that groups the phenotypes caused by biallelic B4GALT7, B3GALT6, and SLC39A13 mutations. In the 2017 EDS nosology, minimal criteria (general and gene-specific) for a clinical suspicion of spEDS have been proposed, but molecular analysis is required to reach a definite diagnosis. The majority of spEDS patients presented with short stature, skin hyperextensibility, facial dysmorphisms, peculiar radiological findings, muscle hypotonia and joint laxity and/or its complications. To date only 7 patients with β4GALT7-deficiency (spEDS-B4GALT7) have been described and their clinical data suggested that, in addition to short stature and muscle hypotonia, radioulnar synostosis, hypermetropia, and delayed cognitive development might be a hallmark of this specific type of spEDS. Additional 22 patients affected with an overlapping phenotype, i.e., Larsen of Reunion Island syndrome, all carrying a homozygous B4GALT7 mutation, are also recognized. Herein, we report on a 30-year-old Moroccan woman who fitted the minimal criteria to suspect spEDS, but lacked radioulnar synostosis and intellectual disability and presented with neurosensorial hearing loss and limb edema of lymphatic origin. Sanger sequencing of B4GALT7 was performed since the evaluation of the spEDS gene-specific minor criteria suggested this specific subtype. Mutational screening revealed the homozygous c.829G>T, p.Glu277* pathogenetic variant leading to aberrant splicing. Our findings expand both the clinical and mutational spectrum of this ultrarare connective tissue disorder. The comparison of the patient's features with those of the other spEDS and Larsen of Reunion Island syndrome patients reported up to now offers future perspectives for spEDS nosology and clinical research in this field.

Use of computer-assisted design and manufacturing to localize dural venous sinuses during reconstructive surgery for craniosynostosis.

Science.gov (United States)

Iyer, Rajiv R; Wu, Adela; Macmillan, Alexandra; Musavi, Leila; Cho, Regina; Lopez, Joseph; Jallo, George I; Dorafshar, Amir H; Ahn, Edward S

2018-01-01

Cranial vault remodeling surgery for craniosynostosis carries the potential risk of dural venous sinus injury given the extensive bony exposure. Identification of the dural venous sinuses can be challenging in patients with craniosynostosis given the lack of accurate surface-localizing landmarks. Computer-aided design and manufacturing (CAD/CAM) has allowed surgeons to pre-operatively plan these complex procedures in an effort to increase reconstructive efficiency. An added benefit of this technology is the ability to intraoperatively map the dural venous sinuses based on pre-operative imaging. We utilized CAD/CAM technology to intraoperatively map the dural venous sinuses for patients undergoing reconstructive surgery for craniosynostosis in an effort to prevent sinus injury, increase operative efficiency, and enhance patient safety. Here, we describe our experience utilizing this intraoperative technology in pediatric patients with craniosynostosis. We retrospectively reviewed the charts of children undergoing reconstructive surgery for craniosynostosis using CAD/CAM surgical planning guides at our institution between 2012 and 2016. Data collected included the following: age, gender, type of craniosynostosis, estimated blood loss, sagittal sinus deviation from the sagittal suture, peri-operative outcomes, and hospital length of stay. Thirty-two patients underwent reconstructive cranial surgery for craniosynostosis, with a median age of 11 months (range, 7-160). Types of synostosis included metopic (6), unicoronal (6), sagittal (15), lambdoid (1), and multiple suture (4). Sagittal sinus deviation from the sagittal suture was maximal in unicoronal synostosis patients (10.2 ± 0.9 mm). All patients tolerated surgery well, and there were no occurrences of sagittal sinus, transverse sinus, or torcular injury. The use of CAD/CAM technology allows for accurate intraoperative dural venous sinus localization during reconstructive surgery for craniosynostosis and

Probable Opitz trigonocephaly C syndrome with medulloblastoma

Energy Technology Data Exchange (ETDEWEB)

Omran, H.; Hildebrandt, F.; Brandis, M. [Freiburg Univ. (Germany)] [and others

1997-04-14

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.

Widening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes

Directory of Open Access Journals (Sweden)

Juliana F. Mazzeu

2007-03-01

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.

Achondroplasia with multiple-suture craniosynostosis: a report of a new case of this rare association.

Science.gov (United States)

Bessenyei, Beáta; Nagy, Andrea; Balogh, Erzsébet; Novák, László; Bognár, László; Knegt, Alida C; Oláh, Eva

2013-10-01

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.

Apert syndrome (acrocephalosyndactyly

Directory of Open Access Journals (Sweden)

Milovanović J.

2014-01-01

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.

Dental Management of a Patient with Nager Acrofacial Dysostosis

Directory of Open Access Journals (Sweden)

R. Bozatlıoğlu

2015-01-01

Full Text Available Nager syndrome is a rare syndrome resulting from developmental abnormalities of the first and second branchial arches. Nager syndrome is rare and mostly sporadic. The main clinical features consist of craniofacial, limb, and musculoskeletal morphogenesis. These findings included malar hypoplasia, maxillomandibular hypoplasia, micrognathia, downslanting palpebral fissures, cleft palate, ear anomalies, hypoplastic thumb, short forearm, proximal radioulnar synostosis, atrial septal defect, lower limb deformities, and flat nasal bridge. The prevalence is unknown; about 100 cases of Nager syndrome have been published up to now. Patients with Nager syndrome are found worldwide among all racial and ethnic groups. Trismus and glossoptosis resulting in oropharyngeal airway narrowing cause life-threatening respiratory distress for patients with Nager syndrome. In this case report, dental rehabilitation of a 10-year-old child with Nager syndrome is presented.

[Synostosis and tarsal coalitions in children. A study of 68 cases in 47 patients].

Science.gov (United States)

Rouvreau, P; Pouliquen, J C; Langlais, J; Glorion, C; de Cerqueira Daltro, G

1994-01-01

The authors report their experience with tarsal coalitions in children. The purpose of this study was to discuss the origins of the of the calcaneum, and to propose a simple therapeutic strategy for diagnosis and treatment. The study included 47 children (68 feet), with one or more idiopathic tarsal coalitions. All patients had physical examinations to record symptoms, morphology of the foot, mobility of the foot, gait analysis, standard radiographs, and in some cases CT scans or MRI. The average age of the patients was 11.5 years old, 7 patients had a positive family history for tarsal coalitions. 66 per cent of the patients had mild tarsal pain or a history of repeated ankle sprains. The conservative treatment concerned 28 feet: 3 casts, 2 injections of corticosteroids into the subtalar joint, insole-shoes in 3 cases, and abstention in 20 cases. The operative treatment (40 feet) consisted of resection of calcaneonavicular coalitions (24 feet) resection of talocalcaneal coalitions (3 feet), mediotarsal and subtalar arthrodesis (8 feet), resection of calcaneonavicular coalition combined with the "Cavalier'' procedure described by Judet (3 feet), calcaneal osteotomy (2 feet). The mean follow-up was 42 months. The morphology of the involved foot was normal in 33 cases, flat foot was seen in 24 cases (4 peroneal spastic flat feet), pes cavus in 3 cases, club foot in 2 cases, pes varus in 4 cases, "Z'' shaped feet in 2 cases. The radiological examination was demonstrative of tarsal coalition in 61 feet. 7 tarsal coalitions were seen during operative procedures. The location or the coalition was calcaneonavicular (57), talocalcaneal (16), talo-navicular (8), calcaneo-cuboid (7), naviculo-cuneiform (4). The secondary radiographic signs were studied for each foot. In the conservative group, 2 patients degraded their clinical status, one developed a spastic flat foot. In the surgical group, all except 2 patients had good clinical and functional results. One patient had persistent pain in the subtalar joint after a technically correct calcaneonavicular resection. One patient had recurrent spastic flat foot following isolated talocalcaneal resection in a foot presenting multiple tarsal coalitions. This patient was reoperated by a mediotarsal and subtalar arthrodesis with a good result. The authors believe that tarsal coalitions have to be recognized based on a history of repeated ankle sprains or subtalar pain. Pain radiographs are diagnostic in most cases. CT scans and MRI are useful when radiographs are negative, especially in young children, or for talocalcaneal coalitions. The authors believe that the "the too long anterior process'' of the calcaneum in calcaneonavicular coalition has the same embryologic origin. Operative treatment is suitable, when tarsal coalitions are symptomatic or after failure of conservative treatment. Resection gives good results with calcaneonavicular coalitions and selected talocalcaneal coalitions. The mediotarsal and subtalar arthrodesis is suitable in spastic flat foot, or when the bony-bridge is too big, or when the involved joint presents degenerative changes in these cases, the MRI is very useful to select patient for resection or for arthrodesis. Evocative history and plain radiographs are diagnostic of most tarsal-coalitions. Modern imagery is useful for difficult diagnostics, for young children, or for evaluation of a joint before resection or arthrodesis. Resection is a good treatment for calcaneonavicular coalitions and gives good results for talocalcaneal coalitions in selected patients.

Early treatment of congenital syngnathia. A case report

Directory of Open Access Journals (Sweden)

Eduardo Alfredo Duro

2018-02-01

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.

Lejringsbetinget plagiocefali

DEFF Research Database (Denmark)

Christensen, Leif; Østergaard, John R; Nørholt, Sven Erik

2002-01-01

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...... plagiocephaly which may be prevented by simple alternating head positioning. Otherwise early (physiotherapy and positioning or an orthoplastic helmet must be considered. The diagnosis of positional plagiocephaly is based on clinical observations. There is a favourite head turning...

Crouzon′s syndrome: A review of literature and case report

Directory of Open Access Journals (Sweden)

Vivek Padmanabhan

2011-01-01

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.

Evaluating alcohol related birth defects in the past

DEFF Research Database (Denmark)

Shuler, Kristrina A.; Schroeder, Hannes

2013-01-01

-wide consumption of lead-tainted rum by enslaved Africans. Skeletons excavated in 1997-1998 (n= 45) were examined for congenital anomalies, using clinical/experimental descriptions to differentially diagnose possible ARBD. Enamel lead data served as a proxy for developmental exposure to tainted rum in a subsample...... (n= 26). Elevated enamel lead (3.8. μg/g), vertebral synostosis, and micrognathism in one subadult fit expectations for exposure. An adult male with low enamel lead (0.3. μg/g) had congenital anomalies, but not those described with ethanol or lead exposures. Contrary to expectations, we did...... not identify ARBD in most individuals, including those with isotopic signatures of Barbadian origin who also showed consistently elevated dental lead levels. We discuss how such patterns may have emerged from timing of exposures and colonial medical practices, but underreporting remains a likely concern...

Rekonstruktive und plastische Operationen in der Kinderneurochirurgie

Directory of Open Access Journals (Sweden)

Ludwig, H. C.

2013-02-01

Full Text Available Cranial and spinal congenital disorders are the main reason for operative therapy in pediatric patients. Other indications are tumour surgery and trauma. Spinal surgery consists in different reconstructive approaches for neural tube defects and dysraphism: detethering and closure of the neural placode and meninges, dissection of adjacent lipoma. The cranial indications consist in corrections oft the cranial vault in premature synostosis of syndromal and non-syndromal origin. In tumour surgery reconstructive approaches are important, if the tumour is located in proximity to craniofacial regions, orbital or skull base structures.In Europe every year 4,500 children with disorders of the nervous system are born (EUROCAT – . Congenital disorders of the nervous system count for about 20% and implicate a high neonatal mortality and morbidity and sometimes require neurosurgical care and supervision throughout the patients lifetime.

Comparison of Functional Outcomes Following Bridge Synostosis with Non-Bone-Bridging Transtibial Combat-Related Amputations

Science.gov (United States)

2013-05-15

the robust interdisciplinary team approach to amputee management in the military system may result in achieving more successful outcomes. Controversy...amputation and limb deficiency: epidemiology and recent trends in the United States. South Med J. 2002 Aug;95(8):875-83. 6. Ertl J. Uber amputationsstumpfe

Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation

DEFF Research Database (Denmark)

Mendioroz, Jacobo; Fernández-Toral, Joaquín; Suárez, Etelvina

2005-01-01

been described as an isolated Mendelian defect, as part of multiple congenital anomaly (MCA) patterns, and in different syndromes. Among a total of 2,023,155 liveborn infants in the Spanish Collaborative Study of Congenital Malformations (ECEMC), we observed only two cases with this type of metacarpal...

Neck osteotomy for malunion of neglected radial neck fractures in children: a report of 2 cases.

Science.gov (United States)

Ceroni, Dimitri; Campos, José; Dahl-Farhoumand, Agnes; Holveck, Jérôme; Kaelin, André

2010-01-01

Radial neck fractures are a common injury in children as a result of a fall on an extended and supinated outstretched hand. We present 2 cases of osteotomy of the neck of the radius performed in 2 children with neglected radial neck fractures. Preoperatively, both patients complained of pain and severely reduced mobility of the elbow. Surgery was performed at 6 weeks and 3 months, respectively, after the initial injury and the 2 children were reviewed at 6 and 16 months follow-up. Osteotomies healed within the usual time and no avascular necrosis of the radial head, proximal radioulnar synostosis, or myositis ossificans were observed. The Mayo Elbow Performance Index Score improved significantly after the operation with the 2 patients rated as excellent. In this small series, we present a novel technique of proximal osteotomy of the radius to correct this deformity in children. Case series, level IV evidence.

Early orthodontic management of Crouzon Syndrome: a case report.

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Hlongwa, P

2009-03-01

Crouzon 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 syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. The disease is characterized by premature synostosis of coronal and sagittal sutures which begins in the first year of life. Once the sutures become closed, growth potential to those sutures is restricted. However, multiple sutural synostoses frequently extend to premature fusion of skull base causing midfacial hypoplasia, shallow orbit, maxillary hypoplasia and occasional upper airway obstruction.The case of a 7-year-old South African black boy with Crouzon Syndrome is presented. He presented with characteristic triad of cranial deformity, maxillary hypoplasia and exophthalmos. The clinical, cephalometric features and initial orthodontic management of this patient are discussed as part of multidisciplinary management.

Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.

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Abdel-Salam, Ghada M H; Abdel-Hamid, Mohamed S; Issa, Mahmoud; Magdy, Ahmed; El-Kotoury, Ahmed; Amr, Khalda

2012-06-01

Mutations in the RNU4ATAC gene cause microcephalic osteodysplastic primordial dwarfism type I. It encodes U4atac, a small nuclear RNA that is a component of the minor spliceosome. Six distinct mutations in 30 patients diagnosed as microcephalic osteodysplastic primordial dwarfism type I have been described. We report on three additional patients from two unrelated families presenting with a milder phenotype of microcephalic osteodysplastic primordial dwarfism type I and metopic synostosis. Patient 1 had two novel heterozygous mutations in the 3' prime stem-loop, g.66G > C and g.124G > A while Patients 2 and 3 had a homozygous mutation g.55G > A in the 5' prime stem-loop. Although they manifested the known spectrum of clinical features of microcephalic osteodysplastic primordial dwarfism type I, they lacked evidence of severe developmental delay and neurological symptoms. These findings expand the mutational and phenotypic spectrum of this syndrome. Copyright © 2012 Wiley Periodicals, Inc.

Improving the Osteoblast Cell Adhesion on Electron Beam Controlled TiO2 Nanotubes

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Sung Wook Yoon

2014-01-01

Full Text Available Here we investigate the osteogenesis and synostosis processes on the surface-modified TiO2 nanotubes via electron beam irradiation. The TiO2 nanotubes studied were synthesized by anodization process under different anodizing voltage. For the anodization voltage of 15, 20, and 25 V, TiO2 nanotubes with diameters of 59, 82, and 105 nm and length of 115, 276, and 310 nm were obtained, respectively. MC3T3-E1 osteoblast cell line was incubated on the TiO2 nanotubes to monitor the change in the cell adhesion before and after the electron beam irradiation. We observe that the electron beam irradiation affects the number of surviving osteoblast cells as well as the cultivation time. In particular, the high adhesion rate of 155% was obtained when the osteoblast cells were cultivated for 2 hours on the TiO2 nanotube, anodized under 20 V, and irradiated with 5,000 kGy of electron beam.

Results of Closed Intramedullary Nailing using Talwarkar Square Nail in Adult Forearm Fractures

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Nadeem A Lil

2012-07-01

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.

Treatment of humeroulnar subluxation with a dynamic proximal ulnar osteotomy: a review of 13 cases

International Nuclear Information System (INIS)

Gilson, S.D.; Piermattei, D.L.; Schwarz, P.D.

1989-01-01

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

Idiopathic scoliosis, growth zones, magnetic therapy.

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Arsenev, A; Dudin, M; Lednev, V; Belova, N; Mikhailov, V; Sokolov, G

2012-01-01

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.

Microarc oxidation coating covered Ti implants with micro-scale gouges formed by a multi-step treatment for improving osseointegration.

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Bai, Yixin; Zhou, Rui; Cao, Jianyun; Wei, Daqing; Du, Qing; Li, Baoqiang; Wang, Yaming; Jia, Dechang; Zhou, Yu

2017-07-01

The sub-microporous microarc oxidation (MAO) coating covered Ti implant with micro-scale gouges has been fabricated via a multi-step MAO process to overcome the compromised bone-implant integration. The as-prepared implant has been further mediated by post-heat treatment to compare the effects of -OH functional group and the nano-scale orange peel-like morphology on osseointegration. The bone regeneration, bone-implant contact interface, and biomechanical push-out force of the modified Ti implant have been discussed thoroughly in this work. The greatly improved push-out force for the MAO coated Ti implants with micro-scale gouges could be attributed to the excellent mechanical interlocking effect between implants and biologically meshed bone tissues. Attributed to the -OH functional group which promotes synostosis between the biologically meshed bone and the gouge surface of implant, the multi-step MAO process could be an effective strategy to improve the osseointegration of Ti implant. Copyright © 2017 Elsevier B.V. All rights reserved.

The use of bone morphogenic protein-7 (OP-1) in the management of resistant non-unions in the upper and lower limb.

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Papanna, M C; Al-Hadithy, N; Somanchi, B V; Sewell, M D; Robinson, P M; Khan, S A; Wilkes, R A

2012-07-01

The aim of the present study was to investigate the safety and efficacy of local implantation of BMP-7 for the treatment of resistant non-unions in the upper and lower limb. Fifty-two patients (30 males, mean age 52.8 years; range 20-81) were treated with local BMP-7 implantation in a bovine bone-derived collagen paste with or without revision of fixation. Thirty-six patients had closed injuries, ten had open injuries and six had infected non-unions. Patients had undergone a mean of 2 (1-5) operations prior to implantation of BMP-7. Clinical and radiological union was achieved in 94% at a mean time of 5.6 months (3-19). Two patients with subtrochanteric femoral fractures failed to achieve union secondary to inadequate fracture stabilisation, persistent unfavourable biological environment and systemic co-morbidities. One patient developed synostosis attributed to the BMP-7 application. This study demonstrates BMP-7 implanted in a bovine-derived collagen paste is an effective adjunctive treatment for resistant non-unions in the upper and lower limb. Copyright © 2012 Elsevier Ltd. All rights reserved.

DIAGNOSTICS AND TREATMENT OF DISTAL RADIOULNAR JOINT INJURIES

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A. V. Skoroglyadov

2010-01-01

Full Text Available We present the experience of treatment of 169 patients with distal radioulnar joint injuries, operated in specialized hand surgery department of the Clinic of traumatology and orthopedics of Russian State Medical University on the base of Moscow city clinical hospital № 4. We have carried out the following operations: closed osteoclasia of the distal epimetaphys fractures, osteotomy of the radius with the external fixator application in 97 (57,4% patients, percutaneous 2 Kirschner wires fixation of the ulna head to the radius after reposition of dislocation - 38 (22,5% patients, lavsanoplasty of DRUJ ligaments - 12 (7,1%, fixation of the ulna head to the radius by pin - 7 (4,1%, open reposition of dislocation of the ulna head and K-wire fixation - 8 (4,8%, osteotomy of synostosis of forearm bones, W. Darrach and Sauve-Kapandji operations - 7 (4,1%. Complications were observed in 13 (7,7% cases. Postponed results (1 year after operation were studied in 110 patients. We got good results in 95 (86,4% cases, satisfactory - in 12 (10,9% cases, unsatisfactory - in 3 (2,7% cases.

A Korean family with the Muenke syndrome.

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Yu, Jae Eun; Park, Dong Ha; Yoon, Soo Han

2010-07-01

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.

The evolution of cerebellar tonsillar herniation after cranial vault remodeling surgery.

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Leikola, J; Hukki, A; Karppinen, A; Valanne, L; Koljonen, V

2012-10-01

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.

Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.

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Bendon, Charlotte L; Fenwick, Aimée L; Hurst, Jane A; Nürnberg, Gudrun; Nürnberg, Peter; Wall, Steven A; Wilkie, Andrew O M; Johnson, David

2012-11-09

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.

Contemporary occurrence of hydrocephalus and Chiari I malformation in sagittal craniosynostosis. Case report and review of the literature.

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Sgulò, Francesco Giovanni; Spennato, Pietro; Aliberti, Ferdinando; Di Martino, Giuliana; Cascone, Daniele; Cinalli, Giuseppe

2017-01-01

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.

A case study of occipital outgrowth: a rare suboccipital abnormality.

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Mushkin, A Y; Gubin, A V; Ulrich, E V; Snischuk, V P

2016-05-01

To describe the clinical and radiological characteristics of uncommon upper cervical spine abnormality in children. Clinical and diagnostic characteristics of three patients aged 6-12 years with a similar uncommon type of occipital anomaly are described. The patients were admitted in 2007, 2009, and 2014, respectively. All patients were clinically and radiologically examined. In each case the massive, additional unilateral outgrowth of the occipital bone (os occipitale) was visualized. The signs and symptoms included torticollis, acute brain ischemia, and limited head motion. Two of the three patients underwent surgical treatment: an occipital-cervical fusion was performed in the first patient, and the outgrowth was removed in the second patient. After 1 year of follow-up the results were estimated as good for both patients, with better functional outcome for the second patient. The parents of the third patient did not consent for the surgical treatment. The unique features of this abnormality distinguish it from previous descriptions of the manifestation of pro-atlas, atlas, or atlanto-occipital synostosis. The presented abnormality had different manifestation of various severity in each case, from torticollis to acute vascular disorder. Clinical case series. IV.

Loss-of-Function of Gli3 in Mice Causes Abnormal Frontal Bone Morphology and Premature Synostosis of the Interfrontal Suture

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Veistinen, Lotta; Takatalo, Maarit; Tanimoto, Yukiho; Kesper, Dörthe A.; Vortkamp, Andrea; Rice, David P. C.

2012-01-01

Greig cephalopolysyndactyly syndrome (GCPS) is an autosomal dominant disorder with polydactyly and syndactyly of the limbs and a broad spectrum of craniofacial abnormalities. Craniosynostosis of the metopic suture (interfrontal suture in mice) is an important but rare feature associated with GCPS. GCPS is caused by mutations in the transcription factor GLI3, which regulates Hedgehog signaling. The Gli3 loss-of-function (Gli3Xt-J/Xt-J) mouse largely phenocopies the human syndrome with the mice...

Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge-Weber and Klippel-Trenaunay syndromes.

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Hall, Bryan D; Cadle, Ronald G; Morrill-Cornelius, Shannon M; Bay, Carolyn A

2007-12-15

In 1947 the term phakomatosis pigmentovascularis (PPV) was coined to represent the association of widespread, aberrant, and persistent nevus flammeus and pigmentary abnormalities. Four types of PPV have been recognized with type II (nevus flammeus and Mongolian spots) being the most common. Most early cases were of Asian or African descent. Many cases were subsequently associated with Sturge-Weber (S-W) and Klippel-Trenaunay (K-T) syndromes. Almost no literature reports have appeared in the genetic or dysmorphology literature! We present six cases of PPV in which five were either African, Asian or Hispanic, and five of six had an admixture of K-T and S-W. Four had macrocephaly, and one had microcephaly. Four had CNS abnormalities (three with hydrocephalus, one with Arnold-Chiari and one with polymicrogyria), three had mental retardation, and one had seizures. One each had thumb hypoplasia, hydronephrosis, glaucoma, coronal synostosis, and 3-4 finger syndactyly. It is our suspicion and hypothesis that in the presence of persistent, extensive and aberrant Mongolian spots, vascular abnormalities as are seen in K-T and S-W carry a worse prognosis. This may be particularly true either of children of Asian, Hispanic or African heritage or any individuals from darker pigmented skin groups. (c) 2007 Wiley-Liss, Inc.

Central bone grafting for nonunion of fractures of the tibia: a retrospective series.

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Ryzewicz, M; Morgan, S J; Linford, E; Thwing, J I; de Resende, G V P; Smith, W R

2009-04-01

Nonunion of the tibia associated with bone loss, previous infection, obliteration of the intramedullary canal or located in the distal metaphysis poses a challenge to the surgeon and significant morbidity to patients. We retrospectively reviewed the records of 24 patients who were treated by central bone grafting and compared them to those of 20 who were treated with a traditional posterolateral graft. Central bone grafting entails a lateral approach, anterior to the fibula and interosseous membrane which is used to create a central space filled with cancellous iliac crest autograft. Upon consolidation, a tibiofibular synostosis is formed that is strong enough for weight-bearing. This procedure has advantages over other methods of treatment for selected nonunions. Of the 24 patients with central bone grafting, 23 went on to radiographic and clinical union without further intervention. All healed within a mean of 20 weeks (10 to 48). No further bone grafts were required, and few complications were encountered. These results were comparable to those of the 20 patients who underwent posterolateral bone grafting who united at a mean of 31.3 weeks (16 to 60) but one of whom required below-knee amputation for intractable sepsis. Central bone grafting is a safe and effective treatment for difficult nonunions of the tibia.

Study of different biocomposite coatings on Ti alloy by a subsonic thermal spraying technique

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Li Muqin [Provincial Key Laboratory of Biomaterials, Jiamusi University, Heilongjiang Province, 154007 (China); Zhang Rui [College of Stomatology, Jiamusi University, Heilongjiang Province, 154003 (China); Wang Jianping [College of Stomatology, Jiamusi University, Heilongjiang Province, 154003 (China); Yang Shiqin [State Key Laboratory Advanced Welding Production Technology, Harbin Institute of Technology, 150001 (China)

2007-03-01

A subsonic thermal spraying technique (STS) was used to make different biocomposite coatings on titanium alloys for preparing three kinds of implants: 8Ti2G, HA and 8H2B, respectively. The implants were embedded in a region of jaw of dogs whose teeth were pulled out three months previously. The dogs, in two groups, were killed 30 days and 90 days, respectively, after they were operated on. Osteointegration between the implants and host bone was investigated by x-ray, histology and the SEM technique. The results showed that the three kinds of coatings all exhibited good biocompatibility and synostosis, but their osteointegration capability showed a difference and decreased in the sequence of 8H2B, HA and 8Ti2G. The activity of coating, which promoted the reactions between implants and bone tissue, was further increased by the addition of bioglass in the 8H2B coating. Subsequently, chemical bonding was formed, and the osteointegration strength was increased. The study provided a new approach to prepare biocomposite coatings. The 8H2B implants, which formed an integral functional biocomposite coating on Ti alloys, showed a better osteointegration capability with bioactivity and pore gradient variation. A theoretical base was provided for the biocomposite coating application.

Management of craniosynostosis at an advanced age: Clinical findings and interdisciplinary treatment in a 17 year-old with pan-suture synostosis

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Rajiv J. Iyengar, BS

2015-03-01

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.

A rare 47 XXY/46 XX mosaicism with clinical features of Klinefelter syndrome.

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Mohd Nor, Noor Shafina; Jalaludin, Muhammad Yazid

2016-01-01

47 XXY/46 XX mosaicism with characteristics suggesting Klinefelter syndrome is very rare and at present, only seven cases have been reported in the literature. We report an Indian boy diagnosed as variant of Klinefelter syndrome with 47 XXY/46 XX mosaicism at age 12 years. He was noted to have right cryptorchidism and chordae at birth, but did not have surgery for these until age 3 years. During surgery, the right gonad was atrophic and removed. Histology revealed atrophic ovarian tissue. Pelvic ultrasound showed no Mullerian structures. There was however no clinical follow up and he was raised as a boy. At 12 years old he was re-evaluated because of parental concern about his 'female' body habitus. He was slightly overweight, had eunuchoid body habitus with mild gynaecomastia. The right scrotal sac was empty and a 2mls testis was present in the left scrotum. Penile length was 5.2 cm and width 2.0 cm. There was absent pubic or axillary hair. Pronation and supination of his upper limbs were reduced and x-ray of both elbow joints revealed bilateral radioulnar synostosis. The baseline laboratory data were LH XX[67] with SRY positive. Laparoscopic examination revealed no Mullerian structures. Insisting on an adequate number of cells (at least 50) to be examined during karyotyping is important so as not to miss diagnosing mosaicism.

A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.

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Scala, Marcello; Accogli, Andrea; De Grandis, Elisa; Allegri, Anna; Bagowski, Christoph P; Shoukier, Moneef; Maghnie, Mohamad; Capra, Valeria

2018-03-01

Sheldon-Hall syndrome (SHS) is the most common of the distal arthrogryposes (DAs), a group of disorders characterized by congenital non-progressive contractures. Patients with SHS present with contractures of the limbs and a distinctive triangular facies with prominent nasolabial folds. Calcaneovalgus deformity is frequent, as well as camptodactyly and ulnar deviation. Causative mutations in at least four different genes have been reported (MYH3, TNNI2, TPM2, and TNNT3). MYH3 plays a pivotal role in fetal muscle development and mutations in this gene are associated with Freeman-Sheldon syndrome, distal arthrogryposis 8 (DA8), and autosomal dominant spondylocarpotarsal synostosis. The last two disorders are characterized by skeletal abnormalities, in particular bony fusions. The observation that MYH3 may be mutated in these syndromes has suggested the involvement of this gene in bone development. We report the case of a boy with a novel pathogenic MYH3 mutation, presenting with the classical clinical features of SHS in association with unilateral carpal bone fusion and multiple vertebral fusions. This distinctive phenotype has never been reported in the literature so far and expands the phenotypic spectrum of SHS, endorsing the clinical variability of patients with MYH3-related disorders. Our findings also support a role for MYH3 in both muscle and bone development, suggesting a phenotypic continuum in MYH3-related disorders. © 2018 Wiley Periodicals, Inc.

Long-term follow-up of syndromic craniosynostosis after Le Fort III halo distraction: a cephalometric and CT evaluation.

Science.gov (United States)

Meazzini, Maria Costanza; Allevia, Fabiana; Mazzoleni, Fabio; Ferrari, Luca; Pagnoni, Mario; Iannetti, Giorgio; Bozzetti, Alberto; Brusati, Roberto

2012-04-01

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.

Pfeiffer syndrome

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Fryns Jean-Pierre

2006-06-01

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.

A Modified Rabbit Ulna Defect Model for Evaluating Periosteal Substitutes in Bone Engineering: A Pilot Study

Energy Technology Data Exchange (ETDEWEB)

El Backly, Rania M. [DIMES, University of Genova, Genova (Italy); IRCCS AOU San Martino–IST Istituto Nazionale per la Ricerca sul Cancro, Genova (Italy); Faculty of Dentistry, Alexandria University, Alexandria (Egypt); Chiapale, Danilo [IRCCS AOU San Martino–IST Istituto Nazionale per la Ricerca sul Cancro, Genova (Italy); Muraglia, Anita [Biorigen S.R.L., Genova (Italy); Tromba, Giuliana [Sincrotrone Trieste S.C.P.A., Trieste (Italy); Ottonello, Chiara [Biorigen S.R.L., Genova (Italy); Santolini, Federico [IRCCS AOU San Martino–IST Istituto Nazionale per la Ricerca sul Cancro, Genova (Italy); Cancedda, Ranieri; Mastrogiacomo, Maddalena, E-mail: maddalena.mastrogiacomo@unige.it [DIMES, University of Genova, Genova (Italy); IRCCS AOU San Martino–IST Istituto Nazionale per la Ricerca sul Cancro, Genova (Italy)

2015-01-06

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{sup ®}) 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{sup ®}) 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.

A Modified Rabbit Ulna Defect Model for Evaluating Periosteal Substitutes in Bone Engineering: A Pilot Study

International Nuclear Information System (INIS)

El Backly, Rania M.; Chiapale, Danilo; Muraglia, Anita; Tromba, Giuliana; Ottonello, Chiara; Santolini, Federico; Cancedda, Ranieri; Mastrogiacomo, Maddalena

2015-01-01

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.

A 590 kb deletion caused by non-allelic homologous recombination between two LINE-1 elements in a patient with mesomelia-synostosis syndrome.

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Kohmoto, Tomohiro; Naruto, Takuya; Watanabe, Miki; Fujita, Yuji; Ujiro, Sae; Okamoto, Nana; Horikawa, Hideaki; Masuda, Kiyoshi; Imoto, Issei

2017-04-01

Mesomelia-synostoses syndrome (MSS) is a rare, autosomal-dominant, syndromal osteochondrodysplasia characterized by mesomelic limb shortening, acral synostoses, and multiple congenital malformations due to a non-recurrent deletion at 8q13 that always encompasses two coding-genes, SULF1 and SLCO5A1. To date, five unrelated patients have been reported worldwide, and MMS was previously proposed to not be a genomic disorder associated with deletions recurring from non-allelic homologous recombination (NAHR) in at least two analyzed cases. We conducted targeted gene panel sequencing and subsequent array-based copy number analysis in an 11-year-old undiagnosed Japanese female patient with multiple congenital anomalies that included mesomelic limb shortening and detected a novel 590 Kb deletion at 8q13 encompassing the same gene set as reported previously, resulting in the diagnosis of MSS. Breakpoint sequences of the deleted region in our case demonstrated the first LINE-1s (L1s)-mediated unequal NAHR event utilizing two distant L1 elements as homology substrates in this disease, which may represent a novel causative mechanism of the 8q13 deletion, expanding the range of mechanisms involved in the chromosomal rearrangements responsible for MSS. © 2017 Wiley Periodicals, Inc.

Glycosaminoglycan synthesis in the mandibular condyle during growth adaptation.

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Kantomaa, T; Pirttiniemi, P; Tuominen, M; Poikela, A

1994-01-01

Condylar growth was studied after an operation simulating functional orthodontic appliances. Twenty-five rabbits underwent a surgical operation for the induction of premature synostosis to displace the glenoid fossa posteriorly during growth. Twenty-five control rabbits underwent sham operations. At the age of 15 days, 10 experimental and 10 control animals and, at the age of 20 days, 5 experimental and 5 control animals were killed. Their mandibular condyles were organ-cultured for 3 h in the presence of radiolabelled sulphur. The condyles were used for autoradiographic purposes. Digital image analysis of autoradiograms of histological sections showed synthesis of glycosaminoglycans to have increased from the anterior to the posterior direction. This increase was more marked in experimental animals than in the condyles of control animals. Ten experimental and 10 control animals were killed at the age of 15 days, and mandibular condyles were organ-cultured for 1, 4 and 7 days. Differentiation of proliferating prechondroblasts into hypertrophied chondrocytes continued under organ culture conditions. A marked decrease in the proliferating cell layer was noticed, especially in control condyles. Hypertrophy was faster and came closer to the surface of the condyle in the anterior region of the condyle. This was most marked in the condyles of experimental animals. The results indicate that a procedure carried out on the glenoid fossa with the same effect as functional appliances increases the synthesis of extracellular matrix in the posterosuperior region of the mandibular condyle.

Bone allografts sterilized by irradiation for the treatment of benign bone tumors

International Nuclear Information System (INIS)

Wakita, Ryuji; Izumi, Toshihiro; Watanabe, Tetsuya; Sekiguchi, Masakazu; Nasuno, Shuji; Ohno, Tsukasa; Kobayashi, Akimasa; Itoman, Moritoshi; Minamisawa, Ikuo

1998-01-01

In bone allografts, osteogenesis potential of gamma-ray sterilized bone was compared with that of freezing bone. For the benign bone tumor (enchondroma) which occurred in short bone of hands and feet of adult, gamma-ray sterilized bone (3 cases) or frozen bone (6 cases) was allografted after the curettage. Development locus of tumor was metacarpus (3 cases), ossa digitorum manus (4 cases), phalanx (2 cases). Gamma-ray sterilized bone was used after defatting, freeze-drying, and irradiation with the dose of 25 kGy by Co-60. Frozen bone was picked with aseptic processing manipulation, refrigerated and stored. Synostosis stage was 3-7 months (an average of 4.3) in frozen bone group and 2-5 months (an average of 3.3) in gamma-ray sterilized bone group. In gamma-ray sterilized bone group, bone shadow in osseous graft part increased until the time of adhesion, and the peak time was two or three months (an average of 2.3) after surgery. In frozen bone group, bone shadow increased in 4 of 6 cases, but peak time was 0.5-7 months (an average of 2.6). Gamma-ray sterilized bone is useful for rather good case of graft condition such as supplement of deficiency of allografts or packing of bone absence after dilatation and curettage of lesion in bone, but it is required more examination to applicate to wide area bone absence part and site which requires physical intensity. (K.H.)

Disuse exaggerates the detrimental effects of alcohol on cortical bone

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Hefferan, Theresa E.; Kennedy, Angela M.; Evans, Glenda L.; Turner, Russell T.

2003-01-01

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.

"Quality of Life in Adults with Non-Syndromic Craniosynostosis".

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Mazzaferro, Daniel M; Naran, Sanjay; Wes, Ari M; Magee, Leanne; Taylor, Jesse A; Bartlett, Scott P

2018-03-19

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.

[Kirschner wire transfixation of unstable ankle fractures: indication, surgical technique and outcomes].

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Marvan, J; Džupa, V; Bartoška, R; Kachlík, D; Krbec, M; Báča, V

2015-01-01

transfixation, no radiographic evidence of ankle osteoarthritis was recorded in 25 (42%) patients. While tibiofibular synostosis was recorded in only few patients (9%) of the group with one-stage osteosynthesis, it showed a high occurrence in the group with temporary transfixation (35%). The patients with one-stage osteosynthesis (188/68%) had a higher proportion of excellent outcomes measured on the Olerund-Molander ankle scoring scale than the other two groups (temporary transfixation, 47%; definitive transfixation,10%); in both cases the difference was significant (p ankle fractures were assessed. The patients with one-stage osteosynthesis were compared with those treated by temporary or definitive transfixation. The majority of patients undergoing temporary transfixation had a fractured posterior margin of the tibia and major ankle joint dislocation, which suggested serious injuries to bone and ligament structures. Generally, the use of only two K-wires inserted through the calcaneus and talus into the distal tibia is recommended. Patients with K-wire transfixation usually require a longer hospital stay because of the serious nature of their injuries. CONCLUSIONS The therapy of choice for unstable ankle fractures is one-stage osteosynthesis. Temporary transfixation is an effective method of primary management when an unstable fracture cannot be treated by definitive osteosynthesis at the early stage due to local or general health conditions of the patient. The temporary transfixation provides good alignment of the ankle joint necessary for successful healing of soft tissues. A higher occurrence of post-traumatic ankle osteoarthritis, ossification and distal tibiotalar synostosis found in the patients treated by temporary transfixation is more related to serious types of ankle fractures the patient had suffered than to the method itself. Key words: unstable ankle fracture, soft tissue condition, indications for transfixation, treatment outcome.

[Growth behaviour after fractures of the proximal radius: differences to the rest of the skeleton].

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Hell, A K; von Laer, L

2014-12-01

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.

Orbital Expansion for Congenital Anophthalmia May Be Achievable in Infancy But Not in Childhood.

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Morrow, Brad T; Albright, William B; Neves, Rogerio I; Wilkinson, Michael J; Samson, Thomas D

2016-10-01

Congenital anophthalmia is a rare anomaly that results in micro-orbitism and craniofacial microsomia. Treatment with static conformers is labor-intensive and provides minimal stimulation for orbital growth that requires eventual reconstruction with orbital osteotomies after skeletal maturity. A protocol for the treatment of congenital anophthalmia is presented. Patients underwent a preoperative low-dose radiation computed tomography (CT) scan of the facial bones to assess orbital volume. An intraorbital expander was placed and was filled on a monthly basis. Quantitative changes in the affected and unaffected orbits were assessed by a repeat CT scan obtained 1 year postoperatively. Two patients with left unilateral congenital anophthalmia were prospectively followed. In a 4-month-old, the affected orbital width and height increased by 171.6% and 116.7% respectively compared with the unaffected orbit. In a 4-year-old, the affected orbital width increased by 36.1% but the height decreased by 35.3% compared with the unaffected orbit. At 18 months follow-up, no complications, ruptures, infections, or extrusions have been observed. Our results support that accelerated expansion can be achieved in a 4-month-old orbit reversing the effects of anophthalmia. However, in a 4-year-old, minimal growth was observed. The lack of accelerated growth in this study may be explained by synostosis of the orbital sutures. As such, expansion should be initiated at the earliest age possible. Further longitudinal study is ongoing to determine if sustained catch-up growth will obviate or reduce the complexity of a secondary correction.

Congenital scoliosis - presentation of three severe cases treated conservatively.

Science.gov (United States)

Weiss, H-R

2008-01-01

In view of the very limited data about conservative treatment of patients with congenital scoliosis (CS) available, early surgery is suggested already in mild cases with formation failures in the first three years of life. It is common sense that patients with failures of segmentation will not benefit from conservative treatment at all and the same applies to failures of formation with curves of >50 degrees in infancy. Two patients with rib synostosis denied surgery before entering the pubertal growth spurt. These patients have been treated conservatively with braces and Scoliosis In-Patient Rehabilitation (SIR) and now are beyond the pubertal growth spurt. One patient with a formation failure and a curve of >50 degrees lumbar has been treated with the help of braces and physiotherapy from 1.6 years on and is still under treatment now at the age of 15 years. Severe decompensation was prevented in the two patients with failure of segmentation, however a severe thoracic deformity is evident with underdeveloped lung function and severe restrictive ventilation disorder. The patient with failure of formation is well developed, now without cosmetic or physical complaints although his curve progressed at the end of the growth spurt due to final mal-compliance. Failures of segmentation should be advised to have surgery before entering the pubertal growth spurt. In case they deny, conservative treatment can at least in part be beneficial. For patients with failures of formation conservative treatment should be suggested in the first place because long-term outcomes of early surgery beyond pubertal growth spurt are not yet revealed.

Gap nonunion of tibia treated by Huntington′s procedure

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Zile S Kundu

2012-01-01

Full Text Available Background: Gap nonunion that may occur following trauma or infection is a challenging problem to treat. The patients with intact or united fibula, preserved sensation in the sole, and adequate vascularity, were managed by tibialization (medialization of the fibula (Huntington′s procedure, to restore continuity of the tibia. The goal of this retrospective analysis study is to report the mid-term results following the Huntington′s procedure. Materials and Methods: 22 patients (20 males and two females age 16-34 years with segmental tibial loss more than 6 cm were operated for tibialization of fibula. The procedure was two-staged in seven and single-staged in the rest 15 patients, where the lateral aspect of the leg was relatively supple. In the two-staged procedure, the distal tibiofibular synostosis was performed six-to-eight weeks after the proximal procedure. Weightbearing (protected was started in a long leg cast after six-to-eight weeks of the second stage and continued for six-to-eight months, followed by the use of a brace. Results: The fibula started showing signs of hypertrophy within the first year after the procedure and it was more than double in breath after the four-year period. Full and unprotected weightbearing on the operated leg was achieved at an average time of 16 months. At the final followup, ten patients were very satisfied, seven satisfied, and five fairly satisfied. One patient had persistent nonunion at the proximal synostotic site even after bone grafting and secondary fixation. Conclusion: Huntington′s procedure is a safe and simple salvage procedure and remains an excellent option for treating difficult infected nonunion of the tibia in the selected indications.

Bone marrow morphology and disease progression in congenital thrombocytopenia: a detailed clinicopathologic and genetic study of eight cases.

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Tsang, Hamilton C; Bussel, James B; Mathew, Susan; Liu, Yen-Chun; Imahiyerobo, Allison A; Orazi, Attilio; Geyer, Julia T

2017-04-01

Patients with congenital thrombocytopenia have an increased risk of developing myeloid neoplasms. In these cases, the morphologic distinction between disease at baseline and at progression is challenging. This report analyzes clinicopathologic features of congenital thrombocytopenia with long-term follow-up at one referral center. Records from the last 20 years were searched for cases of congenital thrombocytopenia with bone marrow biopsies and peripheral blood smears. The clinical, morphologic, immunophenotypic, and molecular features were analyzed. Six adult and two pediatric patients were identified (six male, two female). Age range at first biopsy was 1-47 (median, 31) years. Underlying diseases included thrombocytopenia-absent radius syndrome, congenital thrombocytopenia with radial-ulnar synostosis, MYH9-related disorder, shortened telomere syndrome, congenital thrombocytopenia with ANKRD26 mutation, and familial platelet disorder with predisposition to acute myeloid leukemia. Four patients had myelodysplastic/myeloproliferative neoplasm-like marrow changes such as hypercellularity, increased myeloid to erythroid ratio, numerous micromegakaryocytes (highlighted by CD42b), and marrow fibrosis. Two patients had marrow hypoplasia and two had unremarkable marrow morphology. Three patients-all in the myelodysplastic/myeloproliferative neoplasm-like group-developed disease progression characterized by erythroid and myeloid dysplasia, elevated bone marrow blasts, and new cytogenetic abnormalities. Unlike non-familial myeloid neoplasms, congenital thrombocytopenia patients in the myelodysplastic/myeloproliferative neoplasm-like group had a long and indolent clinical course (average age at disease progression, 47 years). In summary, three distinct morphologic types of congenital thrombocytopenia were identified: a hyperplastic myelodysplastic/myeloproliferative neoplasm-like group, a hypoplastic bone marrow failure-like group, and a group with relatively normal marrow

Screw elastic intramedullary nail for the management of adult forearm fractures

Directory of Open Access Journals (Sweden)

Wasudeo Gadegone

2012-01-01

Full Text Available Background: The failure of the conventional nailing of both forearm bones or isolated fractures of radius and ulna pose a potential problem of nail migration and rotational instability, despite the best reduction. The purpose of this paper is to evaluate the results of screw elastic intramedullary nail for the treatment of adult diaphyseal fractures of both forearm bones, which effectively addresses the problems associated with the conventional nailing systems for the forearm fractures. Materials and Methods: Seventy-six adults with forearm fractures (radius and ulna or isolated fracture of the single bone were retrospectively evaluated. Fifty males and 26 females with the mean age of 38 years (range, 18-70 years underwent closed reduction and screw intramedullary nail fixation. Ten patients required limited open reduction. The fractures were classified according to the AO/OTA system. The average followup was 12 months (range, 6 to 18 months. Results: The mean surgical time was 45 minutes (35 to 65 minutes. The meantime to union was 14 weeks (10-21 weeks. The results were graded as excellent in 50, good in 18 patients, and acceptable in eight patients, using the criteria of Grace and Eversman. We had superficial infection in three cases, one case of delayed infection, painful bursa in two cases, delayed union in two cases, malunion with dislocation of the DRUJ in two cases, injury to the extensor tendon of the thumb in one case, and one case of incomplete radioulnar synostosis. Conclusion: Closed reduction and internal fixation of forearm fractures by screw intramedullary nails reestablishes the near normal relationship of the fractured fragments. Screw intramedullary nail effectively controls both rotatory forces and the migration of the nail. It produces excellent clinical results in isolated fractures of either bones, as well as both bones of the forearm in adults.

Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.

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Al-Maawali, Almundher; Barry, Brenda J; Rajab, Anna; El-Quessny, Malak; Seman, Ann; Coury, Stephanie Newton; Barkovich, A James; Yang, Edward; Walsh, Christopher A; Mochida, Ganeshwaran H; Stoler, Joan M

2016-02-01

Exome sequencing identified homozygous loss-of-function variants in DIAPH1 (c.2769delT; p.F923fs and c.3145C>T; p.R1049X) in four affected individuals from two unrelated consanguineous families. The affected individuals in our report were diagnosed with postnatal microcephaly, early-onset epilepsy, severe vision impairment, and pulmonary symptoms including bronchiectasis and recurrent respiratory infections. A heterozygous DIAPH1 mutation was originally reported in one family with autosomal dominant deafness. Recently, however, a homozygous nonsense DIAPH1 mutation (c.2332C4T; p.Q778X) was reported in five siblings in a single family affected by microcephaly, blindness, early onset seizures, developmental delay, and bronchiectasis. The role of DIAPH1 was supported using parametric linkage analysis, RNA and protein studies in their patients' cell lines and further studies in human neural progenitors cells and a diap1 knockout mouse. In this report, the proband was initially brought to medical attention for profound metopic synostosis. Additional concerns arose when his head circumference did not increase after surgical release at 5 months of age and he was diagnosed with microcephaly and epilepsy at 6 months of age. Clinical exome analysis identified a homozygous DIAPH1 mutation. Another homozygous DIAPH1 mutation was identified in the research exome analysis of a second family with three siblings presenting with a similar phenotype. Importantly, no hearing impairment is reported in the homozygous affected individuals or in the heterozygous carrier parents in any of the families demonstrating the autosomal recessive microcephaly phenotype. These additional families provide further evidence of the likely causal relationship between DIAPH1 mutations and a neurodevelopmental disorder. © 2016 Wiley Periodicals, Inc.

Sacral orientation and spondylolysis.

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Peleg, Smadar; Dar, Gali; Steinberg, Nili; Masharawi, Youssef; Been, Ella; Abbas, Janan; Hershkovitz, Israel

2009-12-01

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.

Effects of a child with a craniofacial anomaly on stability of the parental relationship.

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St John, Dane; Pai, Lori; Belfer, Myron L; Mulliken, John B

2003-09-01

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

Radiography of syndactylous limbs of cattle

International Nuclear Information System (INIS)

Taura, Y.; Takeuchi, A.; Uchino, T.

1985-01-01

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

Ihh and PTH1R signaling in limb mesenchyme is required for proper segmentation and subsequent formation and growth of digit bones.

Science.gov (United States)

Amano, Katsuhiko; Densmore, Michael; Fan, Yi; Lanske, Beate

2016-02-01

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

Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2+P253R mice

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Hill Cheryl A

2010-02-01

Full Text Available Abstract Background Apert syndrome is characterized by craniosynostosis and limb abnormalities and is primarily caused by FGFR2 +/P253R and +/S252W mutations. The former mutation is present in approximately one third whereas the latter mutation is present in two-thirds of the patients with this condition. We previously reported an inbred transgenic mouse model with the Fgfr2 +/S252W mutation on the C57BL/6J background for Apert syndrome. Here we present a mouse model for the Fgfr2+/P253R mutation. Results We generated inbred Fgfr2+/P253R mice on the same C56BL/6J genetic background and analyzed their skeletal abnormalities. 3D micro-CT scans of the skulls of the Fgfr2+/P253R mice revealed that the skull length was shortened with the length of the anterior cranial base significantly shorter than that of the Fgfr2+/S252W mice at P0. The Fgfr2+/P253R mice presented with synostosis of the coronal suture and proximate fronts with disorganized cellularity in sagittal and lambdoid sutures. Abnormal osteogenesis and proliferation were observed at the developing coronal suture and long bones of the Fgfr2+/P253R mice as in the Fgfr2+/S252W mice. Activation of mitogen-activated protein kinases (MAPK was observed in the Fgfr2+/P253R neurocranium with an increase in phosphorylated p38 as well as ERK1/2, whereas phosphorylated AKT and PKCα were not obviously changed as compared to those of wild-type controls. There were localized phenotypic and molecular variations among individual embryos with different mutations and among those with the same mutation. Conclusions Our in vivo studies demonstrated that the Fgfr2 +/P253R mutation resulted in mice with cranial features that resemble those of the Fgfr2+/S252W mice and human Apert syndrome. Activated p38 in addition to the ERK1/2 signaling pathways may mediate the mutant neurocranial phenotype. Though Apert syndrome is traditionally thought to be a consistent phenotype, our results suggest localized and regional

Arthroscopic Talocalcaneal Coalition Resection in Children.

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Knörr, Jorge; Soldado, Francisco; Menendez, Mariano E; Domenech, Pedro; Sanchez, Mikel; Sales de Gauzy, Jérôme

2015-12-01

To present the technique and outcomes of arthroscopic talocalcaneal coalition (TCC) resection in pediatric patients. We performed a prospective study of 16 consecutive feet with persistent symptomatic TCCs in 15 children. The mean age was 11.8 years (range, 8 to 15 years), and the mean follow-up period was 28 months (range, 12 to 44 months). A posterior arthroscopic TCC resection was performed. The plantar footprint, subtalar motion, pain, and the American Orthopaedic Foot & Ankle Society Ankle-Hindfoot scale score were evaluated preoperatively and postoperatively. Preoperative computed tomography (CT) scans were used to classify the coalition according to the Rozansky classification, to measure the percentage of involvement of the surface area, and to determine the degree of hindfoot valgus. Postoperative CT scans at 1 year (n = 15) and 3 years (n = 5) were used to assess recurrences. Patient satisfaction was also evaluated. The TCC distribution according to the Rozansky classification was type I in 7 cases, type II in 3, type III in 3, and type IV in 3. In all cases the arthroscopic approach enabled complete coalition resection. All patients increased by at least 1 stage in the footprint classification and showed clinical subtalar mobility after surgery. All patients showed a statistically significant improvement in pain after surgery except for 1 patient in whom complex regional pain syndrome developed (P < .001). The mean American Orthopaedic Foot & Ankle Society score was 56.8 (range, 45 to 62) preoperatively versus 90.9 (range, 36 to 100) postoperatively, showing a statistically significant increase (P < .001). Preoperative CT scans showed that all TCCs involved the medial subtalar joint facet, with mean involvement of 40.8% of the articular surface. All postoperative CT scans showed complete synostosis resections with no recurrences at final follow-up. At final follow-up, all patients were either satisfied (n = 4 [27%]) or extremely satisfied (n = 10 [67

The effects of orbital spaceflight on bone histomorphometry and messenger ribonucleic acid levels for bone matrix proteins and skeletal signaling peptides in ovariectomized growing rats

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Cavolina, J. M.; Evans, G. L.; Harris, S. A.; Zhang, M.; Westerlind, K. C.; Turner, R. T.

1997-01-01

A 14-day orbital spaceflight was performed using ovariectomized Fisher 344 rats to determine the combined effects of estrogen deficiency and near weightlessness on tibia radial bone growth and cancellous bone turnover. Twelve ovariectomized rats with established cancellous osteopenia were flown aboard the space shuttle Columbia (STS-62). Thirty ovariectomized rats were housed on earth as ground controls: 12 in animal enclosure modules, 12 in vivarium cages, and 6 killed the day of launch for baseline measurements. An additional 18 ovary-intact rats were housed in vivarium cages as ground controls: 8 rats were killed as baseline controls and the remaining 10 rats were killed 14 days later. Ovariectomy increased periosteal bone formation at the tibia-fibula synostosis; cancellous bone resorption and formation in the secondary spongiosa of the proximal tibial metaphysis; and messenger RNA (mRNA) levels for the prepro-alpha2(1) subunit of type 1 collagen, osteocalcin, transforming growth factor-beta, and insulin-like growth factor I in the contralateral proximal tibial metaphysis and for the collagen subunit in periosteum pooled from tibiae and femora and decreased cancellous bone area. Compared to ovariectomized weight-bearing rats, the flight group experienced decreases in periosteal bone formation, collagen subunit mRNA levels, and cancellous bone area. The flight rats had a small decrease in the cancellous mineral apposition rate, but no change in the calculated bone formation rate. Also, spaceflight had no effect on cancellous osteoblast and osteoclast perimeters or on mRNA levels for bone matrix proteins and signaling peptides. On the other hand, spaceflight resulted in an increase in bone resorption, as ascertained from the diminished retention of a preflight fluorochrome label. This latter finding suggests that osteoclast activity was increased. In a follow-up ground-based experiment, unilateral sciatic neurotomy of ovariectomized rats resulted in cancellous

[True/Flex intramedullary nailing for forearm shaft fractures. Long-term results].

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Trlica, J; Počepcov, I; Kočí, J; Frank, M; Holeček, T; Dědek, T

2012-01-01

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

EVALUATION OF RESULTS IN FRACTURES OF BOTH BONES FOREARM TREATED WITH DYNAMIC COMPRESSION PLATING

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Sindhuja G

2017-06-01

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