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1/22. 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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2/22. 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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3/22. Postaxial polydactyly, ulnar ray dysgenesis, and renal cystic dysplasia in sibs.

    We describe two brothers with variable expression of a unique syndrome. One sib has postaxial polydactyly of the right hand and feet, two digits on the left hand (a thumb and first digit), bilateral ulnar ray dysgenesis, ectrodactyly of one hand, and ultrasonic evidence of cystic kidneys. His brother has postaxial polydactyly and small kidneys. The parents and a third sib are normal. They do not have the Pallister ulnar-mammary syndrome but may have an unusual form of the Weyers oligodactyly syndrome. This appears to be the first report of an acro-renal syndrome with ulnar dysgenesis, oligodactyly, polydactyly, and dysplastic kidneys.
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4/22. Hip-shelf procedure in the treatment of osteonecrosis of the transpositioned acetabulum after rotational acetabular osteotomy.

    Necrosis of the transpositioned acetabulum after rotational acetabular osteotomy (RAO) is a major complication characteristic of this procedure. This complication, although rare, has been thought difficult to treat. We report a patient with acetabular osteonecrosis and subsequent collapse after RAO that was effectively treated with a shelf operation, providing satisfactory remodeling of the hip joint. A 16-year-old female had undergone RAO for the treatment of developmental acetabular dysplasia. Postoperative radiography showed that the osteotomized acetabular fragment was unusually thin, and that the osteotome entered the hip joint during the surgery. Five months after the RAO, x-rays revealed significant collapse of the transpositioned acetabulum, and femoral head subluxation caused by postoperative osteonecrosis. Seven months after the RAO, the patient underwent a hip-shelf procedure. The remaining acetabular fragment was used in this procedure, according to the Spitzy method. Seven years after the second operation, favorable remodeling of the hip joint was observed; however, early osteoarthritic changes, including slight joint space narrowing, bone sclerosis of the new acetabulum, and bone cysts within the femoral head, were seen.
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5/22. Congenital bowing of long bones: prenatal ultrasound findings and diagnostic dilemmas.

    OBJECTIVE: Bowing of the long bones can be easily detected on antenatal ultrasound screening, but it is a nonspecific sign that can be associated with a variety of conditions, each denoting a different prognosis. Among these conditions, three well-differentiated bone dysplasias share bowed long bones as a main clinical manifestation. campomelic dysplasia and Stuve-Wiedemann syndrome are characterized by a poor prognosis. Conversely, the overall prognosis of children affected with kyphomelic dysplasia is good, the intelligence and motor development are normal and the radiological abnormalities tend to improve and regress with age. CASE REPORT: We report a case of prenatal detection of short and bowed femora at the 22nd week of gestation. Careful US examination as well as in utero X-ray of the skeleton allowed the exclusion of campomelic dysplasia. In the absence of an unambiguous diagnosis, the pregnancy was continued. At birth, the child presented with clinical and radiological features consistent with a diagnosis of kyphomelic dysplasia. CONCLUSION: This case illustrates the difficulties in making an accurate diagnosis and consequently giving a prognosis when isolated femoral bowing is found on fetal ultrasound examination.
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6/22. Reduced levels of MMP-2 and TIMP-1 in dyssegmental dysplasia.

    matrix metalloproteinases (MMPs) and tissue inhibitors of metalloproteinases (TIMPs) were measured in a mild case of dyssegmental dysplasia. X-ray pictures of a female baby born vaginally at 39 weeks of gestation showed short, bent, dumbbell-shaped long bones of the limbs and profound dyssegmental ossification in the spine, findings characteristic of dyssegmental dysplasia. When the levels of MMP-1, MMP-2, MMP-9, TIMP-1, and TIMP-2 were measured, the levels of MMP-2 and TIMP-1 were significantly reduced. This case might provide a clue to disclose the etiology of dyssegmental dysplasia.
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7/22. Case report: a prenatal case of Jarcho-Levin syndrome diagnosed during the first trimester of pregnancy.

    The Jarcho-Levin syndrome is a specific form of spondylocostal/spondylothoracic dysostosis. There have been various classifications of this syndrome. We present the case of a severe prenatal Jarcho-Levin syndrome, diagnosed by ultrasound examination during the first trimester of pregnancy in a family with no previous medical history of an affected child. X-ray exploration, high-resolution spiral computed tomography and autopsy confirmed the diagnosis.
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8/22. Dysplasia epiphysealis hemimelica.

    Four typical cases of dysplasia epiphysealis hemimelica are reported, the age when first examined varying from 18 months to 5 years. The observation periods varied from 3-20 years. After fusion between the accessory ossification centres of the osteochondroma and the regular epiphysis, no further enlargement was observed. In three cases an enlarged medial femoral condyle was resected, in two cases the resection was done through bone, leaving a non-cartilaginous surface in the knee joint. This procedure seems to have no harmful consequences; one of the patients seen 19 years later had no complaints, and the knee joint appeared almost normal on x-rays.
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9/22. Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia.

    Hypochondroplasia (HCH) and Muenke syndrome (MS) are caused by mutations on FGFR3 gene. FGFR3 is known to play a role in controlling nervous system development. We describe the clinical and neuroradiological findings of the first two patients, to our knowledge, affected by HCH and MS, respectively, in whom bilateral dysgenesis of the medial temporal lobe structures has been observed. In both patients diagnosis was confirmed by molecular analysis. They were mentally normal and showed similarities in early-onset temporal lobe-related seizures. In both patients EEG recorded bilateral temporal region discharges. MRI detected temporal lobe anomalies with inadequate differentiation between white and gray matter, defective gyri, and abnormally shaped hippocampus.
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10/22. A classic adamantinoma arising from osteofibrous dysplasia-like adamantinoma in the lower leg: a case report and review of the literature.

    adamantinoma is known as a low-grade malignant biphasic tumor. Classic adamantinoma is in general characterized by admixture of both epithelial and osteofibrous components that are associated with various proportions and differentiation patterns. Osteofibrous dysplasia (OFD) is a self-limited benign fibro-osseous lesion of bone during infancy and childhood. OFD-like adamantinoma is characterized by predominance of osteofibrous tissues, in which small groups of epithelial cells are only detected by careful search or immunohistochemistry. There have been controversies as to the potential correlation among OFD, OFD-like adamantinoma and classic adamantinoma. We report an unusual case of adamantinoma arising in the tibia, with an extensive review of the literature. The present findings suggest a direct correlation between OFD-like adamantinoma and classic adamantinoma. At the age of 12 years, the tibial biopsy lesion was diagnosed as OFD. At the age of 23, the lesion became larger and more destructive on x-ray films. The biopsy lesion was diagnosed as classic adamantinoma. Wide excision was performed. The primary lesion was retrospectively diagnosed as OFD-like adamantinoma because of presence of keratin-positive epithelial cells within the stroma. At five years after surgery, the patient was free from recurrence or metastasis. The retrospective histological findings of OFD-like adamantinoma in the original biopsy and of a classic adamantinoma in all sections of the later resection specimen raised the possibility of an unusual progression of OFD-like adamantinoma to a classic adamantinoma. The present case and the literature review suggest that an OFD-like adamantinoma may be a precursor lesion of classic adamantinoma. Therefore, the possibility of progression of OFD-like adamantinoma to a classic adamantinoma should be kept in mind, particularly when the destructive changes are seen radiologically.
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