1/158. Prenatal sonographic features of spondylocostal dysostosis and diaphragmatic hernia in the first trimester.Spondylocostal dysostosis is a congenital disorder characterized by multiple malformations of the vertebrae and ribs. We describe the sonographic features of an affected fetus at 12 and 14 weeks of gestation. The fetus had thoracic scoliosis, multiple vertebral and rib malformations and a grossly dilated stomach that had herniated into the chest through a left-sided diaphragmatic hernia. The stomach spanned the whole length of the fetal trunk.- - - - - - - - - - ranking = 1keywords = congenita (Clic here for more details about this article) |
2/158. The importance of an intact abdominal musculature mechanism in maintaining spinal sagittal balance. Case illustration in prune-belly syndrome.STUDY DESIGN: A rare case of thoracic hypokyphotic deformity secondary to prune-belly syndrome is presented. OBJECTIVES: To discuss the role of an intact abdominal musculature mechanism in maintaining spinal sagittal balance, and to present a case illustration of prune-belly syndrome. SUMMARY OF BACKGROUND DATA: There has been an ongoing debate concerning the integrity of the abdominal musculature unit in maintaining spinal support and stability. It is now believed that intra-abdominal pressure hitherto generated plays an important role in the stabilization of the spine. Congenital aplasia of the abdominal musculature, termed prune-belly syndrome, might therefore result in the loss of spinal function and stability. The literature also is reviewed for the incidence of spinal deformities related to this condition. methods: A unique case of prune-belly syndrome in a 33-year-old man with congenital aplasia of the abdominal musculature is presented. RESULTS: The patient exhibited loss of the spinal sagittal balance, with resultant development of a thoracic hypokyphotic deformity and thoracolumbar scoliosis. CONCLUSIONS: scoliosis appears to be the most commonly reported spinal deformity. Unequal compressive forces on the vertebral endplates may be the proposed mechanism for the spinal deformities. Compensatory lumbar paraspinal overactivity resulting from the inability to generate normal intra-abdominal pressures because of a deficient abdominal wall musculature mechanism seems to be the plausible explanation for the observed thoracic hypokyphatic deformity.- - - - - - - - - - ranking = 1keywords = congenita (Clic here for more details about this article) |
3/158. A syndrome of congenital ichthyosis, hypogonadism, small stature, facial dysmorphism, scoliosis and myogenic dystrophy.Rud syndrome formerly was considered as a genetically heterogeneous but distinct clinical entity with the manifestations of ichtyosis, hypogonadism, small stature, mental retardation, epilepsy and, infrequently, retinitis pigmentosa. The existence of such a syndrome has recently been dismissed based on a new understanding of the ichthyoses. We report on the clinical history of a 14-year-old boy with congenital ichthyosis, small stature, hypogonadism, facial dysmorphism, nystagmus, kypho-scoliosis and myogenic dystrophy. He was diagnosed as Rud syndrome but developed neither seizures nor mental retardation. However a cousin was mentally retarded. The ichthyosis was familial as five relatives had ichthyosis but no other features of Rud syndrome. The patient had a deletion of the steroid-sulfatase gene. He had neither chondrodysplasia punctata, nor kallmann syndrome, two conditions which are part of the contiguous gene syndrome of the Xp22.3 region. Most case reports previously reported as Rud syndrome can now be reassigned under a contemporary ichthyosis classification that does not include Rud syndrome as a distinct entity. This case was clearly distinct from refsum disease, sjogren-larsson syndrome and any of the other ichthyosis disorders that have been suggested as a replacement for Rud syndrome. Thus the case reported here appears distinct from any previously described, currently recognized syndrome.- - - - - - - - - - ranking = 5keywords = congenita (Clic here for more details about this article) |
4/158. Intramedullary spinal teratoma and diastematomyelia. Case report and review of the literature.The authors present a patient with diastematomyelia and a spinal intramedullary teratoma, remote from the split cord malformation. A split cord malformation at the L2-L3 level was initially discovered during investigations for thoracic congenital scoliosis, and this was treated surgically. The teratoma, which was at the level of the scoliosis, went undiagnosed until neurological deterioration occurred many years later. Surgical removal of the teratoma resulted in return to normal function. The potential for coexisting congenital anomalies at separate levels of the spinal cord must be considered in radiological investigations of a developmental spinal lesion.- - - - - - - - - - ranking = 2keywords = congenita (Clic here for more details about this article) |
5/158. Cor pulmonale presenting in a patient with congenital kyphoscoliosis following intercontinental air travel.We present the case of a 59-year-old man with congenital kyphoscoliosis who developed cor pulmonale for the first time following intercontinental air travel. Prolonged exposure to the low partial pressure of oxygen in the cabin of the aircraft led to pulmonary hypertension and right heart failure. The case highlights the potential for long-haul air travel to cause decompensation in patients with thoracic deformity and apparently stable cardiorespiratory function. It also emphasises the need for patients and their medical attendants to carefully consider the potential health implications of the hypoxic atmosphere in pressurised aircraft.- - - - - - - - - - ranking = 5keywords = congenita (Clic here for more details about this article) |
6/158. Halo femoral traction and sliding rods in the treatment of a neurologically compromised congenital scoliosis: technique.In severe congenital scoliosis, traction (whether with a halo or instrumental) is known to expose patients to neurologic complications. However, patients with restrictive lung disease may benefit from halo traction during the course of the surgical treatment. The goal of treatment of such deformities is, therefore, twofold: improvement of the respiratory function and avoidance of any neurologic complications. We report our technique to treat a 17-year-old girl with a multi-operated congenital scoliosis of 145 degrees and cor pulmonale. Pre-operative halo gravity traction improved her vital capacity from 560 c.c. to 700 c.c., but led to mild neurologic symptoms (clonus in the legs). To avoid further neurologic compromise, her first surgery consisted of posterior osteotomies and the implantation of two sliding rods connected to loose dominoes without any attempt at correction. Correction was then achieved over a 3-week period with a halofemoral traction. This allowed the two rods to slide while the neurologic status of the patient was monitored. Her definitive surgery consisted of locking the dominoes and the application of a contralateral rod. Satisfactory outcome was achieved for both correction of the deformity (without neurologic sequels) and improvement of her pulmonary function (1200 c.c. at 2 years). This technique using sliding rods in combination with halofemoral traction can be useful in high-risk, very severe congenital scoliosis.- - - - - - - - - - ranking = 7keywords = congenita (Clic here for more details about this article) |
7/158. genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome.Rigid spine syndrome is a neuromuscular disorder characterised by early rigidity of the spine due to axial muscle contractures, generally associated with muscle weakness, limb-joint contractures, and often respiratory failure. This phenotype may be associated with several muscular diseases. In cases of merosin-positive congenital muscular dystrophies (CMD) with rigid spine syndrome, we have recently identified a new locus (RSMD1) on chromosome 1p35-36. In the present study, we report the clinical, morphological and genetic analysis of other patients affected by a CMD with rigid spine syndrome from nine consanguineous families. Homozygosity mapping showed that the disease was linked to RSMD1 in one of the nine families. The other families were excluded from RSMD1, and the patients presented highly variable phenotypes suggesting the involvement of more than one gene defect in rigid spine syndrome. Nevertheless, a subgroup of patients who never walked, and had very early rigidity of the spine and scoliosis, may be considered for further genetic analysis.- - - - - - - - - - ranking = 5keywords = congenita (Clic here for more details about this article) |
8/158. An unusual peritoneal fossa: anatomic report and clinical implications.The peritoneal fossae are usually related to rotation and adhesion of the abdominal viscera to the posterior abdominal wall during fetal development, and/or the presence of retroperitoneal vessels running just under the peritoneum and raising serosal folds. These fossae, therefore, are regarded as congenital and have been considered clinically and surgically as sites of internal abdominal hernias. The authors describe a peritoneal fossa interposed between the fourth portion of the duodenum and the abdominal aorta. Due to a scoliosis of the lumbar column, the abdominal aorta had shifted to the left of the duodenum, stretching two semilunar avascular peritoneal folds connecting the vessel with the ascending duodenum. These two folds bounded above and below an entrance into a fossa lined by the posterior parietal peritoneum and bordered by the fourth portion of the duodenum on the right and the aorta on the left. This recess extended as far as the anterior surface of the second and third lumbar vertebrae. On the basis of the anatomic findings, the authors suggest that acquired fossae, because of their size and topography, may play a part in the etiopathogenesis of internal abdominal hernias.- - - - - - - - - - ranking = 1keywords = congenita (Clic here for more details about this article) |
9/158. The halo-Milwaukee brace. Case series of a revived technique.STUDY DESIGN: A case series in which the halo-Milwaukee brace was used for postoperative immobilization in children with complex congenital and developmental spinal deformities. OBJECTIVES: To describe the use of halo-Milwaukee orthosis in a pediatric population for stabilization of the cervical and upper thoracic spine. SUMMARY AND BACKGROUND DATA: Postoperative immobilization of the neck and upper thorax can be achieved with cervical orthoses, cervicothoracic lumbar orthosis, halo cast, Minerva jacket, or halo vest. In the young child or in individuals with severe deformities, prefabricated braces often do not provide adequate stability or predictable fit. The halo-Milwaukee brace has proven to be an effective and versatile technique in the management of complex pediatric spinal deformities. methods: Halo-Milwaukee brace immobilization was used in 12 patients after surgical stabilization of the upper thoracic or cervical spine. Technique and indications are discussed in this report. Surgical outcomes and complications were reviewed retrospectively in all cases. RESULTS: Application of the halo-Milwaukee brace was a clinically effective and safe means of controlling the upper thoracic and cervical spine. The orthosis was well tolerated and allowed access to the posterior incision. The brace is easily converted to a standard Milwaukee brace with neck ring. The pelvic segment of the brace is molded before surgery, and in most instances did not require postoperative modification. CONCLUSION: The halo-Milwaukee brace is a simple and convenient method of intraoperative and postoperative immobilization. The technique is applicable in patients who cannot be treated with more conventional off-the-shelf orthoses. The brace was well tolerated and allowed for early patient mobilization.- - - - - - - - - - ranking = 1keywords = congenita (Clic here for more details about this article) |
10/158. The C.C.A. syndrome (congenital contractural arachnodactyly): a new differential syndrome for Marfan's syndrome and homocystinuria.The first case in the dental literature of congenital contractural arachnodactyly (C.C.A. syndrome) is presented. This newly delineated syndrome is an autosomal dominant heritable disorder of connective tissue. Its similarities to Marfan's syndrome and homocystinuria, as well as other syndromes, are discussed. The lack of cardiovascular disease, specific ocular anomalies, and mental retardation are presented in the differential diagnosis of the C.C.A syndrome with Marfan's syndrome and homocystinuria.- - - - - - - - - - ranking = 5keywords = congenita (Clic here for more details about this article) |
| | Next -> |