1/58. 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 = 1keywords = dystrophy (Clic here for more details about this article) |
2/58. A case of ventricular fibrillation in the prone position during back stabilisation surgery in a boy with Duchenne's muscular dystrophy.A 15-year-old boy with Duchenne's muscular dystrophy experienced prolonged cardiac arrest whilst in the prone position for spinal surgery. He was successfully resuscitated without apparent neurological sequelae by internal cardiac massage via a thoracotomy and external and internal direct current cardioversion. Recommendations are suggested for the pre- and peroperative management of such cases.- - - - - - - - - - ranking = 35.378295332633keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
3/58. 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 = 28.302636266106keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
4/58. 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 = 0.01940885374805keywords = ocular (Clic here for more details about this article) |
5/58. Multicore myopathy: respiratory failure and paraspinal muscle contractures are important complications.Three ambulant males with multicore myopathy, a rare congenital myopathy, are reported with nocturnal hypoventilation progressing to respiratory failure at the age of 9, 13, and 21 years. Deterioration in these individuals occurred over several months without any precipitating event. patients had clinical evidence of nocturnal hypoventilation with hypoxaemia and hypercapnia. Forced vital capacity was significantly reduced (20 to 43% of predicted level). These parameters improved on institution of overnight ventilation using a BiPAP pressure support ventilator with face mask or nasal pillows with O2 saturation maintained above 90% overnight and an increase in forced vital capacity by as much as 100% (0.3 to 0.6 litres). This was matched by a symptomatic and functional improvement. Also present in these patients and not previously reported is the association of multicore myopathy with paraspinal contractures which produce a characteristic scoliosis described as a 'side-sliding' spine. This may be improved by spinal bracing or surgery.- - - - - - - - - - ranking = 1.0875923893387keywords = myopathy (Clic here for more details about this article) |
6/58. scoliosis in a patient with lipodystrophy--treatment difficulties and literature review.A 12 year-old Chinese schoolgirl presented with left-sided scoliosis at the age of 9 years. She has a rare defect in lipid metabolism, which is not known to be associated with spinal deformity. Her scoliotic curve deteriorated despite bracing. We report a rare occurrence of scoliosis in patient with lipodystrophy and the difficulty of using instrumented fusion in treating this condition.- - - - - - - - - - ranking = 1keywords = dystrophy (Clic here for more details about this article) |
7/58. Subluxation of a lumbar vertebra in a patient with marfan syndrome. Case report.marfan syndrome is a hereditary disorder of the connective tissue that, in its most classic form, includes cardiovascular, ocular, and skeletal features. The neurological problems associated with the disease are mainly caused by intracranial vascular abnormalities and spinal meningeal defects, but other neurological manifestations are rarely present. scoliosis, a skeletal manifestation of the syndrome, occurs frequently, but its onset, natural history, and radiological characteristics differ from those of the idiopathic form. scoliosis in a patient with marfan syndrome seldom accompanies other spinal deformities. In this article the authors describe the case of a patient with marfan syndrome and scoliosis in whom lumbar subluxation occurred. This rare deformity, diagnosed on three-dimensional computerized tomography scanning, has not been reported previously in association with marfan syndrome. Its development can be explained in terms of the theory of progressive rotatory dislocation. The morphological characteristics, clinical features, and surgical treatment of the deformity are presented.- - - - - - - - - - ranking = 0.01940885374805keywords = ocular (Clic here for more details about this article) |
8/58. prenatal diagnosis of arthrogryposis multiplex congenita with increased nuchal translucency but without any underlying fetal neurogenic or myogenic pathology.arthrogryposis multiplex congenita is a general term for congenital multiple joint contractures, the aetiology of which is variable. prenatal diagnosis is usually based on the detection of diminished fetal movements and joint contractures on ultrasound. There are also reports of early diagnosis of arthrogryposis in the first and early second trimester by detection of subcutaneous oedema. We report another case of arthrogryposis multiplex congenita with increased nuchal translucency and scoliosis diagnosed by ultrasonography at 15 weeks of gestation. The pregnancy was terminated at the request of the parents. Post-mortem examination revealed that it was not associated with fetal myopathy or neuropathy. Multiple joint contractures with increased nuchal translucency without any underlying fetal neurogenic and myogenic pathology may be a distinct form of arthrogryposis multiplex congenita.- - - - - - - - - - ranking = 0.1553703413341keywords = myopathy (Clic here for more details about this article) |
9/58. Impact of pregnancy on respiratory capacity in women with muscular dystrophy and kyphoscoliosis. A case report.BACKGROUND: Restriction of the chest wall in pregnancy prevents adaptive physiologic hyperventilation. This in turn might gradually promote respiratory insufficiency. CASE: Two consecutive pregnancies occurred in a woman with severe kyphoscoliosis due to juvenile muscular dystrophy. The patient died postpartum. CONCLUSION: Pregnancies with restrictive lung diseases, including severe scoliosis and kyphoscoliosis, should be considered high risk and thus should be monitored and managed carefully.- - - - - - - - - - ranking = 35.378295332633keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
10/58. Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations.Skeletal and spinal radiographic findings are described in five individuals of a three-generation kindred with kyphoscoliosis. The affected individuals have a novel FBN1 gene mutation, G1796E. To our knowledge, this is the first report of a family with an FBN1 gene mutation cosegregating with an unusual autosomal dominant progressive kyphoscoliosis of variable severity, together with radiological abnormalities of the spine, and some skeletal but no ocular or cardiac manifestations of marfan syndrome. This previously undescribed phenotype represents yet another in the widening spectrum of fibrillinopathies caused by an FBN1 gene mutation.- - - - - - - - - - ranking = 0.01940885374805keywords = ocular (Clic here for more details about this article) |
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