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  • 1
    ISSN: 1432-1076
    Keywords: Key words Osteochondrodysplasia ; Cerebral ischaemia ; Immunologic deficiency syndrome ; Kidney failure ; Hypothyroidism ; Focal glomerulosclerosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive spondylo-epiphyseal dysplasia. The characteristic features of SIOD include 1) short stature with hyperpigmented macules and an unusual facies, 2) proteinuria with progressive renal failure, 3) lymphopenia with recurrent infections, and 4) cerebral ischaemia. Although 25 patients have been reported with this disorder, the clinical course and phenotype of SIOD are not well characterized. This report summarizes the clinical findings, course and treatment of reported patients and includes 14 additional patients with SIOD. We emphasize the high incidence of cerebral ischaemia and ocular abnormalities, define the high incidence of thyroid dysfunction and blood cytopenia, and confirm the absence of effective and durable medical therapies. Conclusion Schimke immuno-osseous dysplasia is a multi-system autosomal recessive disorder with variable expression that affects the skeletal, renal, immune, vascular, and haematopoietic systems. Medical therapy is limited especially for more severely affected individuals.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 152 (1993), S. 211-217 
    ISSN: 1432-1076
    Keywords: Cartilage-hair hypoplasia ; Metaphyseal chondrodysplasia ; Clinical manifestations ; Short stature ; Immunodeficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Cartilage-hair hypoplasia is an autosomal recessive metaphyseal chondrodysplasia with short-limbed short stature, hypoplastic hair, and defective immunity and erythrogenesis. We have analysed the clinical outcome of 108 Finnish patients. Birth length was below −2.0 SD in 70% of the patients; the adult heights ranged from −11.4 SD to −5.2 SD. The sitting height percentage was increased in all but 4 patients. Six patients had normal hair. Increased ligamentous laxity was present in 95%, limited extension of the elbows in 92%, increased lumbar lordosis in 85%, thoracal deformity in 68%, genu varum in 63% and scoliosis in 21% of the patients. Defective cellular immunity had been observed in 88% and increased susceptibility to infections in 56% of the patients. Six patients had died of primary infections. The incidence of malignancies was 6%. Childhood anaemia had occurred in 79% of the patients. It was usually mild, but severe in 14 patients. Hirschsprung disease had been observed in 8, anal stenosis in 1 and oesophageal atresia in 1 patient. The intrafamilial variation of the syndrome was considerable as studied in 16 sibships.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 157 (1998), S. 114-121 
    ISSN: 1432-1076
    Keywords: Key words Quality of life ; Skeletal dysplasias ; Chondrodysplasias
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract While medical knowledge on genetic skeletal dysplasias has expanded, very little is known about the patients' health-related quality of life (HRQOL). To test the validity and sensitivity of the fifteen and sixteen dimensional measures of HRQOL in patients with chondrodysplasias, we examined 121 adults aged 16–54 and 19 adolescents aged 12–15 with achondroplasia, cartilage-hair hypoplasia and diastrophic dysplasia. The age and sex standardized overall HRQOL score of the adult patients (0.885 on a scale from 0 to 1) was significantly lower than that of normal controls (0.928) (P 〈 0.001). The difference in the HRQOL between the patients and the controls consisted mainly of the differences in dimensions of mobility, usual activities, sexual activity and discomfort, for which the patients reported a significantly lower status (more problems) than the controls (P 〈 0.001). Adolescent patients demonstrated HRQOL profiles similar to those of adults. However, age-specific problems occurred on the dimensions of school and hobbies, friends and physical appearance (P 〈 0.05). In a detailed examination of different patient groups, some clinically unexpected findings were observed, suggesting that denial is at least in part involved. Conclusion Subjective assessment of HRQOL of patients with chondrodysplasias is valuable for provision of optimal care. In treatment and management special attention should be paid to those dimensions on which the patients' perceived status is currently suboptimal, especially during adolescence which probably is the most critical period in the lives of these individuals.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 157 (1998), S. 816-820 
    ISSN: 1432-1076
    Keywords: Key words Cartilage-hair hypoplasia ; Metaphyseal chondrodysplasia ; Cellular immunity ; Immunodeficiency ; Infections
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Cartilage-hair hypoplasia (CHH), an autosomal recessive chondrodysplasia, results in severe growth failure, sparse hair and impaired cellular immunity. Lymphocyte subpopulations and proliferative responsiveness in mitogen stimulation were analysed in 35 patients of whom 31% had an increased incidence of infections the year prior to the evaluation. Of the patients, 57% had a decreased CD4+ cell count which led to a decreased total count of T-lymphocytes in 52% and a subnormal CD4+/CD8+ cell ratio in 32%. The B-lymphocyte count was usually normal. The natural killer cell count was above reference values in 40% of the patients. The lymphocyte stimulation indices as studied with phytohaemagglutinin , Concanavalin A and pokeweed mitogen were subnormal in 69%, 69% and 83% of the patients, respectively. The numbers of lymphocytes, T-lymphocytes and CD4+ cells, and the pokeweed mitogen stimulation index, but not the other measured parameters, correlated significantly with the proness to infections during the preceding year. However, the correlation was reverse with higher counts in the patients who had had recurring infections. The observed significant correlations may reflect immunological stimuli caused by recurring infections. Conclusion The presently used parameters of cellular immunity poorly predict the clinical outcome of an individual cartilage-hair hypoplasia patient. All patients, irrespective of their in vitro immunological competence, have to be carefully followed because of possibility of serious infections and malignancies.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 0888-7543
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Genomics 11 (1991), S. 968-973 
    ISSN: 0888-7543
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 0888-7543
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Biochimica et Biophysica Acta (BBA)/General Subjects 244 (1971), S. 584-594 
    ISSN: 0304-4165
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Medicine , Physics
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    European spine journal 2 (1993), S. 230-234 
    ISSN: 1432-0932
    Keywords: Mobilité rachidienne ; Lombalgie ; Syndrome de Marfan ; Examen clinique ; Radiographies dynamiques ; Spinal mobility ; Back pain ; Marfan syndrome ; Clinical examination ; Functional radiographs
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Low back pain symptoms and lumbar spine mobility were assessed by questionnaires and by clinical and radiological measurements in 32 patients with Marfan syndrome. Frequently occurring low back pain was reported by 19% of the patients, but the disability was slight in all of them. Flexion and extension mobility of the lumbar spine (L1-S1) assessed from radiographs was 59.9° and 13.2°, respectively. Mean lumbar angular mobility between flexion and extension radiographs was 7.4° at L1-2, 13.2° at L2-3, 16.0° at L3-4, 19.3° at L4-5 and 18.3° at L5-S1. No correlation was found between the manual assessment of lumbar segmental instability and radiological translatory motion, except at L2-3, where the correlation was negative (r=-0.41, P〉0.05). In conclusion, the prevalence of low back pain does not seem to differ substantially between Marfan syndrome patients and the normal population, and it seems that there is at most a slight hypermobility of the lumbar spine in Marfan syndrome. Several validity problems are encountered in the manual assessment of lumbar instability.
    Notes: Résumé Les lombalgies et la mobilité du rachis lombaire ont été évaluées par un questionnaire et des mesures cliniques et radiologiques chez 32 patients porteurs d'un syndrome de Marfan. Des douleurs lombaires fréquentes mais peu invalidantes ont été rapportées chez 19% des patients. L'amplitude de la flexion et de l'extension du rachis lombaire (L1-S1) mesurée sur des radiographies dynamiques était respectivement de 59°9 et 13°2. La valeur moyenne de l'amplitude globale de flexion-extension était de 7°4 en L1–L2, 13°2 en L2–L3, 16°0 en L3–L4, 19°3 en L4–L5 et 18°3 en L5–S1. Aucune corrélation n'a été retrouvée entre l'évaluation manuelle de l'instabilité segmentaire lombaire et la mobilité en translation sur les radiographies dynamiques, sauf en L2–L3 où la corrélation était négative (r=−0,41; P〉0,05). En conclusion la prévalence des lombalgies ne semble pas présenter de différence sensible entre les patients porteurs d'un syndrome de Marfan et la population normale et il semble tout au plus exister une légère hypermobilité du rachis lombaire dans le syndrome de Marfan. Plusieurs problèmes ont été rencontrés lors de l'évaluation manuelle de l'instabilité lombaire, mettant en jeu la validité des résultats.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric radiology 22 (1992), S. 434-439 
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Cartilage-hair hypoplasia is a metaphyseal chondrodysplasia with short-limbed short stature. In childhood radiographs the metaphyseal regions of the tubular bones are widened, scalloped and irregularly sclerotic. We have analyzed radiological characteristics and skeletal growth in 149 radiographic surveys of 82 Finnish patients. All extremity long bones were affected and short for age. The growth failure was progressive. In the adults the median relative lengths were for the humerus −6.3 SD, radius −8.6 SD, ulna −6.7 SD, femur −9.7 SD, tibia −8.7 SD, and fibula −6.8 SD. The severity of the metaphyseal changes correlated with the degree of the growth failure. The skeletal age was markedly retarded in 14% of the patients. Caudal widening of the interpediculate distance in the lumbar spine was observed in 90% of the patients, but it tended to be less than normal. The sagittal diameter of the spinal canal was normal in the cervical region but decreased in the lumbar region. Mild scoliosis was observed in one-fourth of the patients, and its incidence increased with age. Lumbar lordosis was moderately increased. Thoracic deformity was observed in 82% of the patients. The relative interorbital distance was increased with the median of +2.2 SD in the adults.
    Type of Medium: Electronic Resource
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