1/78. Musculoskeletal manifestations of the Antley-Bixler syndrome.The Antley-Bixler syndrome is a rare disorder with many musculoskeletal anomalies that demand orthopedic assessment. The syndrome includes skeletal, craniofacial, and urogenital anomalies. The most common skeletal deformities are radiohumeral synostosis, craniosynostosis, multiple joint contractures, and arachnodactyly. Other orthopedic manifestations that may occur are femoral bowing, ulnar bowing, camptodactyly, synostoses of carpal and tarsal bones, clubfoot, vertebral body anomalies, perinatal fractures, and advanced skeletal age. The inheritance pattern is thought to be autosomal recessive. A patient with this syndrome is described, which is the 18th of 24 reports published in the world literature. This case is compared with the other reported cases.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
2/78. Hypocalvaria associated with intrauterine growth retardation, facial dysmorphism, congenital heart disease and camptomelia.We report an Omani child from an inbred family with a combination of hypocalvaria, intrauterine growth retardation, craniofacial disproportion, partial synostosis of the right coronal suture and a small mandible associated with congenital heart defect and bowing of the limbs. A literature search failed to reveal a similar case.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
3/78. Fetal craniofacial structure and intracranial morphology in a case of Apert syndrome.Apert syndrome is characterized by craniosynostosis, midfacial hypoplasia and bilateral syndactyly. We document in detail the intrauterine natural history of Apert syndrome by serial sonographic examination. Ultrasound examination of a 19-week fetus revealed an abnormal appearance of the skull. The subsequent examination including transvaginal brain scanning demonstrated a deformed occipital part of the cerebrum and lateral ventricles, frontal bossing, a low nasal bridge and an abnormal appearance of the fetal hands and feet. The distortion of the fetal profile became progressively worse with advancing gestation. Towards the end of pregnancy, anterior prominence of the cerebrum, ventricles and corpus callosum was demonstrated and mild non-progressive ventriculomegaly was seen. The female 3152-g newborn with the typical facial appearance of Apert syndrome, bilateral syndactyly of the fingers and toes and isolated cleft palate was delivered at 37 weeks. Postnatal three-dimensional computed tomography scan demonstrated the fusion of the coronal suture and a wide mid-line calvarial defect, and cranial magnetic resonance imaging confirmed the prenatal sonographic findings. Although the karyotype was normal, genomic dna analysis of the fibroblast growth factor receptor 2 revealed Ser252Trp, which is specified in the mutational basis of Apert syndrome. The time course of the prenatal findings in this case may help increase understanding of the intrauterine natural history of Apert syndrome.- - - - - - - - - - ranking = 4keywords = craniofacial (Clic here for more details about this article) |
4/78. Massive transfusion and hyperkalaemic cardiac arrest in craniofacial surgery in a child.Hyperkalaemia is a recognised complication of massive blood transfusion. We present a case of hyperkalaemic cardiac arrest in a male infant of 12 months, who was undergoing craniofacial surgery for sagittal craniosynostosis. At the time of arrest the patient had received a massive transfusion of predominantly irradiated packed red cells over a two-hour period, and had a measured plasma potassium concentration of 10.1 mmol/l. cardiopulmonary resuscitation was successful after 15 minutes. On the basis of our laboratory data and a review of the available literature, we recommend the use of fresh, non-irradiated packed red cells whenever possible in paediatric surgery.- - - - - - - - - - ranking = 5keywords = craniofacial (Clic here for more details about this article) |
5/78. clinical conference I. Calvarium and cranial base in Apert's syndrome: an autopsy report.A post-mortem examination of a 22-month-old boy with Apert's syndrome is reported. A linear coronal craniectomy performed at 11 months of age had fused completely in spite of the insertion of polyethylene film between the bony edges. Furthermore, progressive synostosis of other cranial sutures was observed. Histological examination of the cranial base showed that the sphenofrontal suture was fused and that the entire cerebral surface, including the sella turcica, was characterized by bone resorption. The sphenooccipital synchondrosis was extremely wide and abnormally shaped, and the chondral growth activity seemed diminished. It was concluded that the patient exhibited primary as well as secondary growth distrubances in the calvarium and cranial base. The premature synostosis of the coronal and sphenofrontal sutures and the anomaly of the sphenooccipital synchondrosis were interpreted as primary defects. The altered shape of the calvarium and the marked resorption and shortening of the cranial base were considered secondary changes. Furthermore, the investigation indicated that the conventional linear coronal craniectomy cannot be expected to improve the craniofacial growth pattern in patients with Apert syndrome. Alternative surgical procedures were suggested.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
6/78. Unilateral coronal synostosis treated by internal forehead distraction.A 1-year-old infant with left hemicoronal synostosis was treated by distraction osteogenesis of the craniofacial skeleton using an internal distraction device. Surgery was performed through a coronal incision. The frontal bone and upper half of both orbits were first osteotomized en bloc after minimal epidural dissection of the supraorbital area and no epidural dissection around the coronal osteotomy site. The lateral one fourth of the frontal bone, including the right lateral half of the orbit, was left intact. The internal distraction device was fixed in the left temporal area. A 0.5-mm per day rate of distraction was performed up to an elongation of 17 mm after a 5-day latency period. The distraction device was removed after a consolidation period of 2 months. The results obtained were satisfactory, with symmetry of the forehead, orbit, and nose achieved without complications. The merits of this procedure are no extradural dead space after the operation (which prevents infection), shortened operative time, reduced blood loss, filling in the bone gap created by advancement with new bone, acceptable cosmesis by the parents during distraction, and no fixation device left after the second operation.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
7/78. New case of Cole-Carpenter syndrome.We describe a girl with a severe progressive type of osteogenesis imperfecta, in association with multisutural craniosynostosis, growth failure, and craniofacial findings including ocular proptosis, marked frontal bossing, midface hypoplasia, and micrognathia. collagen analysis was normal. These features are consistent with the diagnosis of Cole-Carpenter syndrome. This report provides further evidence for the existence of this rare genetic entity.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
8/78. Antley-Bixler syndrome, description of two new cases and review of the literature.OBJECTIVE: Antley-Bixler syndrome (ABS) is a rare disorder characterized by multiple malformations of cartilage and bone including multisynostotic osteodysgenesis, midface hypoplasia, choanal atresia or stenosis, femoral bowing, neonatal fractures and multiple joint contractures and, occasionally, urogenital, gastrointestinal or cardiac defects. Since the first report in 1975, at least 34 cases (including this report) have been described. We present 2 cases of congenital hydrocephalus, suggesting the cause of craniosynostosis and midface hypoplasia is associated with ABS. CLINICAL PRESENTATION: The first case was a 1-day-old female with arnold-chiari malformation, multiple cranial synostosis, obstructive hydrocephalus and radioulnahumeral synostosis. Ventriculoperitoneal (V-P) shunting was performed when she was 7 days old. She died 42 days later due to cardiopulmonary failure. The second case was a 2-month-old female with bilateral coronal synostosis, obstructive hydrocephalus and brachycephaly. V-P shunting was done soon after her admission, and bilateral lateral canthal advancement with the floating forehead procedure was performed 1 month later. She is still alive with good development. DISCUSSION: The main anomalies of the ABS can be divided into 4 categories: craniofacial, skeletal, extremity and urogenital anomalies. They may be the result of mutation in the fibroblast growth factor receptor 2 (Ser351Cys) gene, which was confirmed in our case 2. Craniosynostosis combined with hydrocephalus created congenital increased intracranial pressure (IICP). Early V-P shunt implantation and surgical release of the closed suture and lateral canthal advancement should be done as soon as possible, ideally when the patient is younger than 3 months. CONCLUSION: Early correction of craniosynostosis was feasible and safe for one of our patients. We offer our experience in the treatment of hydrocephalus and correction of craniosynostosis to relieve IICP.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
9/78. Saethre-Chotzen syndrome: review of the literature and report of a case.Saethre-Chotzen syndrome is an autosomal acrocephalosyndactyly syndrome whose gene has been assigned to chromosome 7p (TWIST). A case of a 13-year-old girl with Saethre-Chotzen syndrome (ACS III) is described. The features of the syndrome include: turriplagiocephaly with a cranial circumference of 52 cm, facial asymmetry, low hairline, proptosis, antimongoloid slanting of palpebral fissures, nasal deviation with high bridge, angled ears, scoliosis and torticollis, clinodactyly of the fourth and fifth toes, large halluxes, and neurosensorial hypoacusia. For correction of the deformity, a cranioorbital remodeling was performed. The craniofacial approach with remodeling of the frontal bar and reduction of the turricephaly resulted in a satisfactory morphological and functional outcome, with complete three-dimensional reshaping and remodeling of the frontonasoorbital area.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
10/78. Surgical correction of scaphocephaly: experiences with a new procedure and follow-up investigations.INTRODUCTION: Simple resection of the sagittal suture and the use of alloplastic material or extensive skull resections have long been proven to be unsatisfactory in the treatment of sagittal synostosis. In contrast to these experiences, the immediate correction of skull shape seems to yield the best results without significant morbidity. patients: Thirty-six scaphocephalic infants with an average age of 6.5 (3.5-14) months underwent operation by our craniofacial team since 1994. methods: Wide resection of the sagittal suture was used in combination with a bone-strip resection along the coronal and lambdoid sutures. Occasionally partial resection and reshaping of the frontal or occipital bone was necessary to correct an extremely bulging skull. The cranial growth and shape was monitored by anthropometric skull measurements in the last 20 patients. RESULTS: Except in two cases, in which the dura mater was minimally injured intraoperatively, no complications occurred in any patient. Craniofacial oedema always occurred but disappeared after 72 h. The immediate correction of the skull shape was successful in all cases and was completed within 6 months postoperatively. There was no iatrogenic bone defect one year after surgery. Postoperative skull shape and growth was normal. CONCLUSION: These procedures seem to be effective in the treatment of scaphocephalus. Further normalization of skull shape is achieved by unrestricted postoperative brain growth.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
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