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1/36. Craniometaphyseal dysplasia: case report.

    Craniometaphyseal dysplasia is a rare genetic bone remodeling disorder characterized by undertubulation of the long bones, especially in the lower extremities, causing deformities of the metaphyses of the long bones, and sclerosis of the skull base or cranial bone hyperostosis. The authors report a case of craniometaphyseal dysplasia in an 8-year-old Brazilian child, emphasizing the importance of precocious diagnosis of this rare genetic disorder.
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ranking = 1
keywords = sclerosis
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2/36. Severe cervical kyphosis in osteopathia striata with cranial sclerosis: case report.

    We report a 29-month-old girl with osteopathia striata with cranial sclerosis (OS-CS), who showed several unusual manifestations, including short stature, muscular hypotonia, short lingual frenulum, an accessory ear and a granuloma at the oral edge. The most unusual distressing finding was severe cervical kyphosis with a dysplastic cervical spine. MRI revealed impingement of the upper spinal cord. To clarify the mode of inheritance of this disease in this patient, we performed a methylation-specific PCR analysis. It eventually showed random inactivation of X-chromosomes, suggesting an autosomal dominant trait.
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ranking = 5
keywords = sclerosis
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3/36. Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance.

    Osteopathia striata with cranial sclerosis (OS-CS) is a rare syndrome comprising macrocephaly, minor anomalies, conductive hearing loss, and mild mental retardation. The diagnosis is based on radiological findings, including cranial sclerosis and longitudinal striations of metaphyses of long bones. Here we report on 10 new cases of OS-CS, including two sporadic cases and three families, with an excess of affected females (9F/1M). Phenotypic variability was observed in our patients as well as several unusual findings. hirschsprung disease, Pierre Robin sequence, coronal craniostenosis, and laryngotracheomalacia were associated with a poor prognosis. The X-inactivation pattern of peripheral blood lymphocytes in a mildly affected mother and her severely affected boy demonstrated a non-random X-inactivation in the mother. This finding, in combination with a sex ratio in favor of females and an increased morbidity and mortality in males, is highly suggestive of X-linked dominant inheritance.
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ranking = 6
keywords = sclerosis
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4/36. 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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keywords = sclerosis
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5/36. Osteosclerotic metaphyseal dysplasia: a skeletal dysplasia that may mimic lead poisoning in a child with hypotonia and seizures.

    We report the case of a 23-month-old male with hypotonia, developmental delay, and complex seizures. Radiographs revealed profound sclerosis of the metaphyses and epiphyses of the long and short bones in the extremities, with a unique pattern of distribution. Sclerosis also involved the anterior ribs, iliac crests, talus, and calcaneus. The skull and vertebral bodies appeared unaffected. blood lead levels were normal. We believe that this constellation of clinical and radiographic abnormalities closely resembles osteosclerotic metaphyseal dysplasia (OMD) due to an autosomal recessive defect. Characteristic skeletal findings were instrumental in determining the diagnosis. OMD is a very rare sclerosing bone disorder, first described in 1993. The syndrome is characterized clinically by developmental delay of a progressive nature, hypotonia, elevated alkaline phosphatase, and late-onset spastic paraplegia. We encountered a young child with these neurologic symptoms who displayed sclerotic metaphyseal changes on hand radiographs obtained to determine the bone age. lead poisoning, a known cause of metaphyseal sclerosis, was initially suspected. Careful analysis of the metaphyseal bone changes helped to distinguish this bone dysplasia from lead poisoning and other causes of metaphyseal sclerosis.
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ranking = 3
keywords = sclerosis
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6/36. Osteopathia striata with cranial sclerosis: clinical, radiological, and bone histological findings in an adolescent girl.

    Osteopathia striata with cranial sclerosis (OS-CS) is a rare skeletal dysplasia characterized by linear striations of the long bones, osteosclerosis of the cranium, and extra-skeletal anomalies. We provide a comprehensive description of the skeletal phenotype in a French-Canadian girl with a moderate to severe form of sporadic OS-CS. Multiple medical problems, including anal stenosis and the Pierre-Robin sequence, were evident in the first few years of life. At 14 years, she was fully mobile, with normal intellect and stature. She suffered chronic lower extremity pain in the absence of fractures, as well as severe headaches, unilateral facial paralysis, and bilateral mixed hearing loss. Biochemical indices of bone and mineral metabolism were within normal limits. Bone densitometry showed increased areal bone mineral density in the skull, trunk, and pelvis, but not in the upper and lower extremities. An iliac bone biopsy specimen revealed an increased amount of trabecular bone. Trabeculae were abnormally thick, but there was no evidence of disturbed bone remodeling. In a cranial bone specimen, multiple layers of periosteal bone were found that covered a compact cortical compartment containing tightly packed haversian canals. Bone lamellation was normal in both the iliac and skull samples. Osteoclast differentiation studies showed that peripheral blood osteoclast precursors from this patient formed functional osteoclasts in vitro. Thus, studies of bone metabolism did not explain why bone mass is increased in most skeletal areas of this patient. Cranial histology points to exuberant periosteal bone formation as a potential cause of the cranial sclerosis.
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ranking = 7
keywords = sclerosis
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7/36. Craniometaphyseal dysplasia associated with obstructive sleep apnoea syndrome.

    Craniometaphyseal dysplasia (CMD) is a genetic craniotubular bone disorder characterized by early progressive hyperostosis and sclerosis of the craniofacial bones, and abnormal modelling of the metaphyses of the tubular bones. We present the case of a patient with a confirmed history of the autosomal dominant form of CMD, associated with symptoms of obstructive sleep apnoea syndrome. Examination and imaging studies revealed several unusual features in addition to the common findings of CMD such as: bimaxillary retrusion with hyperostosis of the mental area, severe notching of the external occipital protuberance, huge occipital horn, decreased angle of the mandible with notching of the body and thickening of the areas of muscle attachment, and macrodontia. The literature and differential diagnoses are reviewed.
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ranking = 1
keywords = sclerosis
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8/36. Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings.

    Schimke-immuno-osseous dysplasia (SIOD) is a multisystem disorder with the following consistent clinical features: spondyloepiphyseal dysplasia with disproportional growth deficiency, nephrotic syndrome with focal and segmental glomerulosclerosis, and defective cellular immunity. Transitory ischemic attacks due to vaso-occlusive processes are complications in some patients with severe SIOD. Recently, mutations of SMARCAL1, which encodes a putative chromatin remodelling protein, have been associated with SIOD. patients with milder disease were observed to harbor a missense mutation on each allele, whereas patients with a severe form of the disease were predicted to have at least one allele with a nonsense, frameshift or splicing mutation. We report two brothers who are both compound heterozygous for the mutations 836 T>C and 2542 G>T detected in exons 4 and 17, respectively. We demonstrate the lack of genotype-phenotype correlation in these patients as one brother shows some features of the severe form while the other does not. Neither clinical nor molecular findings can fully predict the clinical course of SIOD.
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ranking = 1
keywords = sclerosis
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9/36. Osteomesopyknosis: a benign familial disorder of bone.

    A family with osteomesopyknosis is described. This condition is a rare benign bone dysplasia, characterized by patchy sclerosis predominantly involving the axial skeleton. The radiographic appearances may be confused with osteoblastic metastases, renal bone disease and other sclerosing bone disorders. As routine blood tests and isotope bone scans are normal in osteomesopyknosis, differentiation is readily achieved.
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ranking = 1
keywords = sclerosis
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10/36. osteomyelitis of the mandible in a patient with dysosteosclerosis. Report of a case.

    Dysosteosclerosis is a rare bone dysplasia that has radiographic, histopathologic, and clinical similarities to osteopetrosis. This article reviews the dental findings reported in patients with dysosteosclerosis and presents the first reported case of osteomyelitis of the mandible in a patient with this disease. This is also the first report that demonstrates ankylosis of impacted teeth in dysosteosclerosis.
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ranking = 7
keywords = sclerosis
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