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1/468. Long-term follow-up of skeletal dysplasia in thalassaemia major.

    We report skeletal changes due to deferoxamine (DF) in 15/29 patients with transfusion-dependent thalassaemia major (TM), followed longitudinally for growth assessment. Clinically the earliest signs were decline in height and/or sitting height growth rate, leg and back pain with restricted movement and limb deformity. Radiologically metaphyseal and spinal changes were seen in 5 subjects and vertebral lesions alone in 10. The metaphyseal changes were mild, moderate or severe and affected all long bones, but were most pronounced at wrists and knees. They progressed from widening of the growth plate and defects of metaphyseal margins to appearance of radiolucent pseudocystic areas and, in severe cases, of cupped, rickets-like metaphyses. The spinal changes proceeded from osseous defects of ventral upper and lower edges of vertebrae and biconvex contours of end-plates to platyspondyly with decreased vertebral body height. After DF dose reduction, metaphyseal changes regressed in 2 patients, while they progressed in 3, requiring corrective surgery for severe valgus knee. Spinal abnormalities either remained unchanged or progressed. Final height was very short in patients with spondylometaphyseal lesions, short and disproportionate in patients with only spinal involvement.
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ranking = 1
keywords = dysplasia, defect
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2/468. Mesomelic dysplasia with periosteal thickening, radio-humeral dislocation, osteoporosis and multiple fractures.

    We report a boy with a new form of mesomelic dysplasia characterised by short stature, multifocal periosteal thickening, radio-humeral dislocation, osteoporosis and multiple fractures with minimal trauma. electrophoresis of fibroblast collagens detected defects in type III and type V collagen. CONCLUSION: Bone dysplasias presenting with osteopenia, abnormal trabecular pattern, bone fragility, and periosteal thickening suggest a collagenopathy. A possible collagen defect requires biochemical investigations.
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ranking = 1.4999742204045
keywords = dysplasia, defect
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3/468. Electrical impedance measurements with the CI24M cochlear implant for a child with Mondini dysplasia.

    Electrical impedance measurements can give useful information about the status of individual electrodes of a cochlear implant. Impedances within the normal range (when measured in the common ground mode of stimulation) suggest that current flow occurs in the tissue and fluid of the cochlea. Low impedance measurements may suggest that particular electrodes are short circuiting, whereas high impedances might be due to a broken electrode wire or an electrode only in contact with air. In the case discussed, low impedance measurements were recorded intra-operatively from a child with Mondini dysplasia on electrodes 1-13 of a Nucleus CI24M device. Post-operatively the impedances had returned to the expected range and were comparable with other patients implanted with the CI24M device. Possible reasons for this are discussed. It was thought that impedances were low intra-operatively due to a larger-than-normal proportion of fluid surrounding the electrode array, rather than short circuits occurring along the array, as suggested by the dps7 software.
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ranking = 1.2499355510114
keywords = dysplasia
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4/468. focal dermal hypoplasia: report of a case with cutaneous and skeletal manifestations.

    focal dermal hypoplasia is a rare genodermatosis characterized by developmental defects of the skin, resulting in widespread linear lesions of dermal hypoplasia with adipose tissue in the dermis. We describe a 13-year-old girl who has typical cutaneous lesions which have been present since birth; she also has some of the associated dental, nail and skeletal abnormalities, while an X-ray of the long bones osteopathia striata is visible, a feature seen in a high proportion of cases of focal dermal hypoplasia. Eighty-eight per cent of the case reports in the literature are of females and X-linked dominance is the likely mode of inheritance. It has also been proposed that the condition is lethal in homozygous males and the high frequency of miscarriages on the maternal side of this patient's family is consistent with that lethality in males. The literature, particularly with regard to pathogenesis and inheritance, is discussed.
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ranking = 2.5779595456409E-5
keywords = defect
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5/468. A mild variant of Desbuquois dysplasia.

    On the basis of three newly observed cases (a pair of siblings and a sporadic case) and one previously reported case, we describe the clinical and radiological phenotype of a skeletal dysplasia resembling Desbuquois dysplasia. The skeletal alterations in the present disorder, including generalized osteopenia, mild modification of the vertebral endplates, epiphyseal flattening of the long bones, broad proximal femora with a spur-like projection of the lesser trochanters (a monkey wrench appearance of the proximal femora), and advanced carpal skeletal age, are almost identical to those of Desbuquois dysplasia. However, postnatal growth failure and minor spondylo-articular problems in the present disorder contrast with the conspicuous prenatal growth failure and severe spondylo-articular deformities of Desbuquois dysplasia. Short stature in the present disorder does not reach the degree of Desbuquois dysplasia. Molecular investigation of one patient excluded abnormalities of the diastrophic dysplasia sulphate transporter gene. CONCLUSION: The combination of skeletal alterations identical to those of Desbuquois dysplasia with milder short stature and spondylo-articular problems in the present patients suggests the nosological proposal of "a mild variant of Desbuquois dysplasia".
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ranking = 2.9998453224273
keywords = dysplasia
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6/468. Variability in kyphomelic dysplasia.

    Four infants with kyphomelic dysplasia ascertained from three families demonstrate variability within the syndrome. In the first family, sibling recurrence in female sibs was noted with atypical kyphomelic dysplasias, suggesting autosomal recessive inheritance. In the second family, with a male affected with the 'typical findings' of lethal kyphomelic dysplasia, diagnosis of a skeletal dysplasia was suspected at 29-30 weeks' gestation following US detection of short, bent femurs. In the third family, with a female affected, severe radiographic changes were documented at birth. The clinical course of the disease was mild with almost complete regression of the radiographic findings at the age of 7 years.
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ranking = 1.9998968816182
keywords = dysplasia
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7/468. Kyphomelic dysplasia: clinical and radiologic long-term follow-up of one case and review of the literature.

    The authors describe the 17-year follow-up of the (to their knowledge) only adult and only female patient affected with kyphomelic dysplasia so far described in the literature, with assessment of the phenotypic, orthopedic, and radiologic progression of this syndrome.
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ranking = 1.2499355510114
keywords = dysplasia
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8/468. Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal-spondyloperipheral dysplasia.

    Variable expression and penetrance of dominantly inherited disorders present problems in diagnosis and counseling. The variation in clinical findings within a family with an autosomal dominant skeletal dysplasia is presented. In some members only shortened metacarpals were found, as seen in classic brachydactyly E. Others presented with more severe and generalized skeletal involvement, such as is found in some of the spondyloepiphyseal dysplasias. This family may represent the true spectrum of brachydactyly E; they may be affected with a specific spondyloepiphyseal dysplasia; or they may represent a new syndrome. The authors favor the first possibility and feel that this family serves to emphasize the importance of examining all affected members in a kindred with an autosomal dominant disease.
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ranking = 2.749858212225
keywords = dysplasia
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9/468. hyperostosis generalisata with striations of the bones: report of a female case and a review of the literature.

    We report on a 70-year-old woman with generalized skeletal alterations, characterized by marked diaphyseal expansion of the long bones and coarse striations of the trabeculae of the tubular bones, ribs, pelvis and vertebral bodies. These findings were consistent with hyperostosis genralisata with striations of the bones, first described by Fairbank. biopsy of the femur revealed a featureless sclerosed bone. This is the first report of a female patient with this rare sclerosing bone dysplasia.
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ranking = 0.24998711020227
keywords = dysplasia
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10/468. Tooth root resorption associated with a familial bone dysplasia affecting mother and daughter.

    The dental findings are presented of a mother and daughter who suffer from an as yet unclassified bone dysplasia that shows features of both hereditary hyperphosphatasia and familial expansile osteolysis. Both patients have experienced progressive root resorption of permanent teeth, deafness, and high alkaline phosphatase levels. The mother has a more advanced bone dysplasia which has led to progressive skeletal deformity and bone pain. The kindred is consistent with an autosomal dominant pattern, and the mutation(s) is thought to be in chromosome 18q21-22 region. Conventional treatment strategies of root resorption offer only a poor prognosis for the dentition. Therapy using alendronate, a bisphosphonate compound and a potent inhibitor of osteoclastic activity, has reduced alkaline phosphatase levels, bone pain, and may offer an effective strategy to prevent tooth root resorption in this group of diseases.
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ranking = 1.4999226612136
keywords = dysplasia
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