1/4. Nevo syndrome is allelic to the kyphoscoliotic type of the ehlers-danlos syndrome (EDS VIA).We report on seven patients affected with Nevo syndrome, a rare, autosomal recessive disorder characterized by increased perinatal length, kyphosis, muscular hypotonia, and joint laxity. Since its first description by Nevo et al. [1974], only a few cases have been reported. Because some of these patients present clinical features similar to those of the kyphoscoliotic type of ehlers-danlos syndrome (EDS VIA), an inherited connective tissue disorder characterized by a deficiency of lysyl hydroxylase due to mutations in PLOD1, we studied seven patients with Nevo syndrome, three of whom have previously been reported, and four of whom are new. In the five patients from whom urine was available, the ratio of total urinary lysyl pyridinoline (LP) to hydroxylysyl pyridinoline (HP) was elevated (8.2, 7.8, 8.6, 3.5, and 4.8, respectively) compared with that in controls (0.20 /- 0.05, range 0.10-0.38), and similar to that observed in patients with EDS VIA (5.97 /- 0.99, range 4.3-8.1). Six patients were homozygous for a point mutation in exon 9 of PLOD1 causing a p.R319X nonsense mutation, while one patient was homozygous for a large deletion comprising exon 17 of PLOD1. We conclude that the Nevo syndrome is allelic to and clinically indistinguishable from EDS VIA, and present evidence that increased length at birth and wristdrop, in addition to muscular hypotonia and kyphoscoliosis, should prompt the physician to consider EDS VIA earlier than heretofore.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
2/4. Congenital kyphosis.Congenital kyphosis is a rare spinal deformity, and many physicians are unfamiliar with its proper treatment. Following a case report, this article presents a brief synopsis of the literature. We present the case history of a 45-year-old woman with a congenital kyphosis of 140 degrees who has been followed at our institution for 39 years. No treatment was ever prescribed, affording the unique opportunity to study the natural history of this entity in a particular patient.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
3/4. back pain in children and adolescents.back pain in children is a common problem that is infrequently reported to physicians. Persistent back pain in children is serious, and most conditions can be diagnosed with relatively simple tests, including diagnostic plain radiographs and bone scans. Many cases, including strains and sprains, are relieved with rest and decreased activity. If persistent back pain, increasing pain, fever, or neurologic deficit is present, referral to the orthopedic surgeon should be swift until a specific cause can be found and treated.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
4/4. Progressive congenital kyphosis: report of five cases and review of the literature.For over 60 years congenital kyphotic deformities of the spine have been categorized into two distinct groups, depending on the developmental defect. Those arising from a failure of formation of the vertebral bodies were classified as type 1, while those arising from a failure of segmentation were referred to as type 2. Recognition of the progressive and unstable nature of the type 1 defects alerted physicians to the need for early operative stabilization through decompression and stabilization through instrumentation. As the embryogenesis of the spinal column was further investigated, and as diagnostic imaging methods of the spine improved, unstable congenital kyphoses were further subdivided. Progressive congenital kyphotic deformities now may accompany a host of vertebral column developmental defects as well as genetically mediated mesenchymal tissue defect syndromes. This paper presents 5 patients from The Children's Hospital of philadelphia with progressive and symptomatic congenital kyphotic deformities of the spine. Two of these lesions resulted from defects of formation of the vertebral bodies, while one resulted from segmental spinal dysgenesis, maldevelopment of both the anterior and posterior vertebral elements. One patient's kyphotic deformity was a result of caudal regression syndrome, and the final case presented experienced a high thoracic kyphosis from a syndrome associated diffuse midline mesenchymal tissue abnormalities known as cerebrocostomandibular syndrome. All patients showed evidence of progressive cord compression and required neural element decompression, fusion, and instrumentation. The cases are discussed individually, and the developmental and clinical aspects of each are explored.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |