共查询到20条相似文献,搜索用时 15 毫秒
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H. M. Kingston M.D. M.R.C.P. D.C.H. J. S. Freeman M.B. Ch.B. M.R.C.P. C. M. Hall M.B. Ch.B. F.R.C.R. 《Skeletal radiology》1991,20(2):117-119
A neonate is described with a lethal sclerosing bone dysplasia associated with prenatal fractures and craniofacial abnormalities including microcephaly, exophthalmos, hypoplastic nose and mid-face, small jaw and nodular hyperplasia of the gums. Parental consanguinity suggests that an autosomal recessive mutation is the likely aetiology. 相似文献
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OBJECTIVES: The aim of this study was to determine the clinical and radiological presentation of cleidocranial dysplasia (CCD) in our patient group and to compare them with other reported cases by a systematic review (SR) of the literature. METHODS: The study comprises two elements, a complete series of all diagnosed patients at the Center for Craniofacial Genetics at the University of Regensburg, Germany, and a SR. Relevant literature was identified by electronic databases, review of citation lists and hand searching of key journals. The principal selection criterion was that the study should contain as many pertinent cases as possible. The presented signs and symptoms were assigned to the following categories: "supernumerary teeth", "failure of eruption", "hypoplastic maxilla" and "clavicular sign". Additionally, the family history was taken into account. RESULTS: From the 410 English, German or French articles, 40 single case presentations and 17 multiple case studies remained that met the selection criteria. This report reviews the data of 283 patients with CCD including our own patient cohort of 24 individuals. Dental signs such as supernumerary teeth and eruption failure were expressed in over 93.5%. Skeletal symptoms such as hypoplastic maxilla and the clavicular sign were exhibited in over 84.3%. The prevalence of spontaneous mutations differs slightly when comparing the single case studies (72.0%) with our patient data (58.3%). The fraction of spontaneous mutations in multiple case studies was 5.0%. CONCLUSION: The diagnosis of CCD can be difficult when typical features are not clearly expressed. Since the multiple case studies concentrated on specific clinical aspects, an overall ranking including all associated findings was not possible. Owing to their prevalence, we recommend referencing to the described list of clinical signs as major symptoms for the pathognomy in CCD, since they are infrequent in other conditions and in the general population. To categorize the expression of CCD, more interdisciplinary studies are necessary. Nevertheless, a subjective classification is possible according to the related restrictions in the patients' quality of life. 相似文献
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Fibrocartilaginous dysplasia of bone 总被引:3,自引:0,他引:3
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A unique acromesomelic epimetaphyseal dysplasia with presumed dominant inheritance has been observed in a 15-year-old male with normal stature.
Correspondence to: K. Kozlowski 相似文献
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A bone dysplasia with deafness 总被引:3,自引:0,他引:3
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J P Whalen M Horwith L Krook I MacIntyre E Mena F Viteri B Torun E A Nunez 《AJR. American journal of roentgenology》1977,129(1):29-35
Two children with bone dysplasia with hyperphosphatasemia (juvenile Paget's disease) were treated with synthetic human calcitonin. The progress of bone disease was monitored radiographically and histologically. Pretreatment radiographs showed markedly abnormal bone, characterized by lack of discrete cortex and absence of normal modeling. During treatment a discrete cortex was formed composed of compact bone, and more normal modeling occurred. This coincided with a histologic change from woven bone before treatment to a more lamellar type during treatment. 相似文献
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S. Kenan Ibrahim Fikry Abdelwahab George Hermann Michael J. Klein 《Skeletal radiology》1998,27(8):463-467
Hereditary bone dysplasia (HBD) is an extremely rare clinicopathological entity manifested by diaphyseal medullary stenosis
and cortical bone thickening associated with a propensity for fractures affecting the long tubular bone. Malignant transformation
has been reported to occur at an alarming frequency. The hereditary pattern appears to be autosomal dominant. In this paper
we present the case of a 19-year-old man with hereditary bone dysplasia who was unaware of his underlying condition until
he presented with malignant transformation arising in an area of bone infarct of the left tibia. 相似文献
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Fibrous dysplasia, in general, appears as an area of markedly increased uptake on bone scintigraphy. Therefore, the possibility of fibrous dysplasia is likely to be excluded when the lesion shows no or slightly increased uptake. The authors report a case of incidentally detected fibrous dysplasia that appeared as slightly increased uptake on bone scintigraphy and was found to harbor a bone infarction along with typical fibrous dysplasia by pathologic examination of a specimen sampled by curettage. Barely increased bone uptake in fibrous dysplasia may be associated with decreased vascularity and osteoblast activity of the lesion as a result of concurrent bone infarction. The authors suggest that not every case of fibrous dysplasia appears as an area of intensely increased uptake on a bone scan. Clinicians should be cautious in interpreting bone scans of radiographically indicated fibrous dysplasia. 相似文献
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A 22-year-old woman had a Tc-99m MDP whole-body scan for low back pain. A focal area of increased activity was seen in the skull base in the region of the sella turcica. A computed tomographic examination showed ground-glass opacification of the sphenoid sinus and bony sclerosis along its walls, characteristic of fibrous dysplasia. Monostotic fibrous dysplasia, the more common form compared with the polyostotic variety, occurs in 70% to 80% of all patients with fibrous dysplasia. Monostotic lesions usually involve the ribs, femur, tibia, cranium, maxilla, and mandible. The frontal and sphenoid bones are the cranial bones most commonly involved. 相似文献
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Sabatel Hernández G Gómez Río M Ortega Lozano S Ramos Font C Rodríguez Fernández A López Ruiz JM Llamas Elvira JM 《Revista espanola de medicina nuclear》2004,23(3):202-204
Young male patient clinically and radiologically diagnosed of a tumour in IX right rib. A subsequent study with bone scintigraphy showed other areas of focal uptake in the skull, ribs and left trochanterian region. The biopsy of the costal lesion showed a fibrous dysplasia in the clinical context of a McCune-Albright syndrome. The convenience of using complementary imaging techniques is discussed to establish adequate therapeutic behavior. 相似文献