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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Congenital contractural arachnodactyly (CCA) was described by Beals and Hecht as an autosomal dominant disorder distinct from Marfan syndrome and comprising joint contractures, arachnodactyly, scoliosis, and a distinct "crumpled ear" deformity. While the disorder is similar to Marfan syndrome, it was split from it due to the distinct physical appearance of the patients and, more importantly, the lack of heart and eye findings. Since the original report, several CCA patients have been found to have mitral valve prolapse, structural cardiac anomalies, and occasionally aortic root dilatations similar to those seen in Marfan syndrome. We report on a patient with CCA with bilateral ectopia lentis and aortic root dilatation. Our review of the literature of CCA showed that serial echocardiography and careful eye examinations have not become a standard of medical practice in this condition. Partly this may be due to a lack of documented cases of CCA having severe ectopia lentis and cardiac complications. This patient underscores the need for periodic eye and echocardiographic evaluations of all CCA patients.
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PMID:Ectopia lentis and aortic root dilatation in congenital contractural arachnodactyly. 130 60

This paper presents a 23-year follow-up of the separation of ischiopagus tetrapus conjoined twins reported in Annals of Surgery in December 1966. One twin died of septicemia at age 2 years after bilateral pelvic osteotomies for the treatment of her marked pelvic diastasis. The surviving twin has done reasonably well, and her most significant problem is related to her musculoskeletal system. She has an increasing T7-10, L-1 apex right congenital scoliosis with wedged vertebra at T-10, as well as marked pubic diastasis and bilateral subluxation of her hips. This has resulted in a somewhat aberrant physical appearance and a "waddling" gait. Her colostomy functions well and she has normal renal and bladder function. This patient's history illustrates that many problems remain after successful separation of conjoined twins. However these problems are manageable and do not preclude the possibility that such a patient may be a productive member of society.
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PMID:Twenty-three-year follow-up of separated ischiopagus tetrapus conjoined twins. 268 60

Congenital Fiber Type Disproportion (CFTD) has recently been described as a consistent and stereotyped clinicopathological entity, including congenital nonprogressive hypotonia and weakness, contractures, kyphoscoliosis, high arched palate, dislocated hips, short stature, and feet deformities. Our personal experience with this condition suggests a wider disparity in the physical appearance and associated abnormalities of affected individuals than the well-defined clinical syndrome previously described. We are presenting 5 cases, including 2 siblings, whose muscle biopsies satisfy the major histological and statistical criteria for the diagnosis. Although each child clearly had hypotonia and weakness consistent with a congenital myopathy, only 3 had a sufficient number of other similarities to establish the diagnosis clinically. The clinical spectrum of the other cases ranged from one infant whose only abnormality was mild hypotonia in the legs to another whose problems included severe motor impairment, marked mental retardation, growth failure, frontal bossing, abnormal hair, and scoliosis. Even in retrospect, the diagnosis of CFTD could not have been supported on clinical grounds alone. Therefore, CFTD is a congenital myopathy whose diagnosis can be made only by muscle biopsy, rather than a distinct syndrome whose diagnosis can be assumed on the basis of clinical characteristics alone.
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PMID:Clinical variability in congenital fiber type disproportion. 738 15

Cosmesis is important in the treatment of adolescent idiopathic scoliosis patients. The aim of this study was to quantify the cosmetic defect using parameters of the ISIS (Oxford Metrics Ltd., Oxford, England) scan. Ten nonmedical judges scored photographs of 100 adolescent idiopathic scoliosis patients based on cosmetic criteria. This Cosmetic Spinal Score proved to be a reliable figure. The Cosmetic Spinal Score was then compared with ISIS parameters and the Cobb angle. An equation based on ISIS parameters was developed, which could predict Cosmetic Spinal Score with sufficient reproducibility to have a useful clinical application. Bracing reduced the rib hump but not enough to improve the cosmetic appearance. Spinal fusion and Harrington instrumentation improved all measured parameters influencing physical appearance.
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PMID:Quantifying the cosmetic defect of adolescent idiopathic scoliosis. 831 92

Sixty-seven patients who had a diagnosis of Scheuermann kyphosis and a mean angle of kyphosis of 71 degrees were evaluated after an average follow-up of thirty-two years (range, ten to forty-eight years) after the diagnosis. All sixty-seven patients completed a questionnaire; fifty-four had a physical examination and radiographs; fifty-two, pulmonary function testing; and forty-five, strength-testing of the trunk muscles. The results were compared with those in a control group of thirty-four subjects who were matched for age and sex. The patients who had Scheuermann kyphosis had more intense back pain, jobs that tended to have lower requirements for activity, less range of motion of extension of the trunk and less-strong extension of the trunk, and different localization of the pain. No significant differences between the patients and the control subjects were demonstrated for level of education, number of days absent from work because of low-back pain, extent that the pain interfered with activities of daily living, presence of numbness in the lower extremities, self-consciousness, self-esteem, social limitations, use of medication for back pain, or level of recreational activities. Also, the patients reported little preoccupation with their physical appearance. Normal or above-normal averages for pulmonary function were found in patients in whom the kyphosis was less than 100 degrees. Patients in whom the kyphosis was more than 100 degrees and the apex of the curve was in the first to eighth thoracic segments had restrictive lung disease. Five patients had an unexplained, mildly abnormal neurological examination. Mild scoliosis was common; spondylolisthesis was not observed.
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PMID:The natural history and long-term follow-up of Scheuermann kyphosis. 842 84

SPONASTRIME (SPOndylar and NAsal changes, with STRIations of the MEtaphyses) dysplasia is a rare, autosomal recessive bone disorder first described by Fanconi et al. [1983: Helv Paediatr Acta 38:267-280]. Radiographic findings include abnormal vertebral bodies with age-dependent changes, and striations of the metaphyses, scoliosis, and retarded ossification of the carpal bones. Physical features include severe short stature, lumbar lordosis, midface hypoplasia, frontal bossing, and a depressed nasal root. To date, 12 patients from 6 families have been reported. Four additional patients have been reported with a variant of this condition, which includes mental retardation. We report on an 11-year-old boy with features consistent with SPONASTRIME dysplasia. Height was 106.1 cm (-6 SD). He had a coarse appearing face with a depressed nasal bridge, short, upturned nose, and midface hypoplasia. Intelligence was normal. A clinical evaluation at 6 years of age suggested the diagnosis of spondyloepiphyseal dysplasia (SED). However, genetics evaluation at 11 years of age with repeat radiologic studies revealed delayed carpal ossification (-4 to -5 SD), metaphyseal irregularities and striations most notably in the distal femurs and the proximal tibias, lumbar lordosis, narrow interpedicular distances of the lumbar spine, and pear-shaped vertebral bodies. These findings were most consistent with the diagnosis of SPONASTRIME dysplasia, and not SED. Although radiographic findings of SPONASTRIME dysplasia are distinguishable from SED, the physical appearance may be similar. Many bone dysplasias have overlapping radiographic findings and clinical presentation but with different recurrence risks, making genetic counseling a challenge.
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PMID:SPONASTRIME dysplasia: report of an 11-year-old boy and review of the literature. 1079 20

We report a case of Kallmann's syndrome (KS) in a previously untreated 30-year-old Caucasian male, admitted to our Endocrinology Department, presenting with hypogonadotropic hypogonadism and hypoosmia, and reporting a history of rickets in early childhood and a rapid growth pattern. On admission, his main complaints were back-pain and a decreased tolerance to physical exercise. The patient gave no family history of hypogonadism or hypoosmia, and his case was assumed to be sporadic KS. On physical examination hypogonadism (micropenis, small testes, no puberty), hypoosmia and severe scoliosis, kyphosis and chest malformations were recorded. No facial hair growth was found nor past voice braking. His skeletal proportions were eunuchoidal, no mid-line defects were found. This case of KS was identified unusually late. Due to patient's anxiety that his physical appearance might change due to therapy, he was referred to a clinical psychologist who confirmed the patient's self-perception as a male. The risk of further bone malformations, progression of osteoporosis and consecutive pathological fractures were the main indications for commencing treatment. Psychological support was provided. Six months of treatment with low doses of hCG (500 IU given i.m. twice a week) had elevated his testosterone levels but they still remained below the lower values of the normal reference range for males. Additional treatment with vitamin D and calcium supplementation was continued. A certain improvement of bone density score was observed. The patient noted a marked pain relief and he willingly complied with the treatment. After six months of therapy hCG dose was increased to 2000 IU given twice a week. We conclude that even at such a late diagnosis of Kallmann's syndrome in a male who accepts his physical appearance and does not wish any treatment in this respect, hormonal therapy is necessary and should be introduced to reduce significant risk of osteoporosis and bone fractures, and also to offset slowly progressing skeletal malformations which result from the lack of epiphyseal fusion.
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PMID:Kallmann's syndrome: skeletal and psychological aspects of late diagnosis. 1459 39

We report the case of a 13-year-old Caucasian girl suffering from severe axial rotation of the T5 to L4 vertebrae. The patient (initially examined during a school screening study) was at first considered to be suspicious of suffering from scoliosis due to a highly positive Adam's forward bending test. However, her radiographic evaluation revealed the existence of axial rotation in 12 of her vertebrae, without inclination in the sagittal and coronal planes. After an observation period of 12 months and due to the fact that both her physical appearance and the measured vertebral rotation deteriorated, the patient was given a modified thoracolumbar Boston brace that had an immediate positive derotational effect on all but two vertebrae. Twenty four months later, the progress of the vertebral rotation(s) seems to have been halted and most affected vertebrae appear to be stabilized in their new, 'post-brace', reduced position, with better results shown when the Boston brace is worn. The patient remains under constant medical observation. The application of a modified Boston brace seems to have served well (so far) a useful purpose for reducing and stabilizing this case of severe axial vertebral rotation, providing less deformity and (possibly) offering a better final cosmetic result.
Scoliosis 2010 Mar 24
PMID:Severe axial vertebral rotation treated with a modified Boston brace: a case report. 2033 65

Adolescent idiopathic scoliosis is the most common spinal deformity encountered by General Orthopaedic Surgeons. Etiology remains unclear and current research focuses on genetic factors that may influence scoliosis development and risk of progression. Delayed diagnosis can result in severe deformities which affect the coronal and sagittal planes, as well as the rib cage, waistline symmetry, and shoulder balance. Patient's dissatisfaction in terms of physical appearance and mechanical back pain, as well as the risk for curve deterioration are usually the reasons for treatment. Conservative management involves mainly bracing with the aim to stop or slow down scoliosis progression during growth and if possible prevent the need for surgical treatment. This is mainly indicated in young compliant patients with a large amount of remaining growth and progressive curvatures. Scoliosis correction is indicated for severe or progressive curves which produce significant cosmetic deformity, muscular pain, and patient discontent. Posterior spinal arthrodesis with Harrington instrumentation and bone grafting was the first attempt to correct the coronal deformity and replace in situ fusion. This was associated with high pseudarthrosis rates, need for postoperative immobilization, and flattening of sagittal spinal contour. Segmental correction techniques were introduced along with the Luque rods, Harri-Luque, and Wisconsin systems. Correction in both coronal and sagittal planes was not satisfactory and high rates of nonunion persisted until Cotrel and Dubousset introduced the concept of global spinal derotation. Development of pedicle screws provided a powerful tool to correct three-dimensional vertebral deformity and opened a new era in the treatment of scoliosis.
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PMID:Current concepts and controversies on adolescent idiopathic scoliosis: Part I. 2368 72

A person's image, which is determined through physical appearance, considerably affects self-esteem developed from early childhood. Scoliosis causes multiple trunk deformations that can affect a person's perception of the body. The aim of the study was to analyze the impact of scoliosis dimension and the degree of trunk deformation on the level of self-esteem and sexual functioning in women with idiopathic scoliosis. Thirty-six women diagnosed with idiopathic scoliosis were recruited to a prospective, double-blind, randomized controlled trial. The subjects were divided into two groups depending on the value of the Cobb angle. The level of self-esteem was determined by means of the Rosenberg Self-Esteem Scale (SES), whereas the sexual functioning was assessed via the Female Sexual Function Index (FSFI). The trunk deformations were specified with the Posterior Trunk Symmetry Index (POTSI). A statistically significant correlation was proved between the amount of points received in the Rosenberg scale evaluation and the POTSI index in Group A (R = -0.56, p = 0.04). Subjects with smaller deformations within the coronal plane had a higher level of self-confidence. The trunk asymmetries in the coronal plane may have a negative effect on women with scoliosis and their self-appraisal.
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PMID:The Level of Self-Esteem and Sexual Functioning in Women with Idiopathic Scoliosis: A Preliminary Study. 2627 67


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