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11/285. trisomy iop. A report of two cases due to a familial translocation rcp (10;21) (pII;pII).

    trisomy for the short arm of chromosome number 10 was diagnosed (by a G-banding method) in two sisters with multiple congenital defects. Their mother and two other sisters showed a balanced translocation 46,XX rcp(10;21)(p11;p11), so the affected girls were the result of a maternal adjacent-1 meiotic segregation with a karyotype 46,XX, der(21), rcp(10;21)(p11;p11)mat. The concordant features in the abnormal patients constitute the following syndrome: severe psychomotor retardation, congenital microsomatia, mild hydrocephalus with cranium-face disproportion, low set ears with hypoplastic helix, ocular colobomata, pulmonary stenosis,flexion deformity of wrists and elbows, bilateral fifth finger clinodactyly and simian creases, hypoplastic dermal ridges, bilateral talipes, persistent icterus and delayed bone age. The phenotypical and cytogenetic findings permit the individualization of the 10p trisomy.
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12/285. Hyperphosphatasemia: report of three cases.

    We report the radiographic findings in three cases of hyperphosphatasemia. Often classified as a congenital bone dysplasia, the skeletal manifestations of this disorder are diagnostic. These features simulate Paget's disease both radiographically and with respect to salient biochemical markers. Typically, presentation is at early childhood with skull deformity, refusal to weight bear, and bowing of the extremities. Notable radiographic features include bowing of the long bones, thickening of the cortex, osteopenia, coarsened trabecular pattern, expansion of the medullary cavity, and thickening of the intramembranous portion of the calvarium. Histologic features include absence of lamellar bone and haversian systems, with thick osteoid seams and increased number of osteoclasts. An autosomal recessive pattern of inheritance has been suggested, although autosomal dominant varieties have been postulated.
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13/285. Autogenous bone marrow graft to non-ossifying fibroma with a pathologic fracture.

    Non-ossifying fibroma with a pathological fracture of the radius in a 10-year-old girl was successfully treated by curettage and autogenous bone marrow graft. The lesion was completely replaced by normal bone at 1 year after the operation. Autogenous bone-marrow graft was considered to be a useful method for the treatment of non-ossifying fibroma with minimal morbidity of the graft-harvesting site.
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14/285. Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia, and Burton disease.

    Follow-up and re-evaluation of four patients originally described as examples of severe infantile "micromelic chondrodysplasia" resembling Kniest disease, "kyphomelic dysplasia," and "Burton skeletal dysplasia" revealed the diagnosis of Schwartz-Jampel syndrome (SJS, myotonic chondrodysplasia) in all of them. SJS may be suspected in neonates with Kniest-like chondrodysplasia, congenital bowing of shortened femora and tibiae, and facial manifestations consisting of a small mouth, micrognathia, and possibly pursed lips. The disorder must be differentiated from the Stuve-Wiedemann syndrome, a genetically distinct myotonic chondrodysplasia with similar clinical but different skeletal changes and an unfavorable early prognosis. The demise of "kyphomelic dysplasia" as a nosological entity reemphasizes the symptomatic nature of congenital bowing of the long bones.
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15/285. Detailed ultrasonographic findings in Greenberg dysplasia.

    A case of Greenberg dysplasia [hydrops fetalis, ectopic calcifications, "moth-eaten" skeletal dysplasia (HEM)] is presented. Fetal ultrasonography at 20 weeks' gestation showed hydrops fetalis, severe micromelia, irregular hyperechogenic foci in the ribs and vertebral bodies, irregular hypo- and hyperechogenic areas and abnormal contour within the long bones, and flattened and "T"-shaped appearance of the vertebrae. Findings on postmortem histological and radiographic examination were consistent with Greenberg dysplasia.
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16/285. Weismann-Netter-Stuhl syndrome: first Brazilian case reports.

    Weismann-Netter-Stuhl syndrome was first described in 1954 and is defined by an anterior curvature of the bones of the lower limbs, usually bilateral and symmetrical. Since its initial description, 82 cases were reported, including only 14 pediatric patients. The authors report two cases of this syndrome. One patient was an adult who presented with almost all the characteristic features of the disease. The second case was a 12-year-old girl who also presented with severe bone deformities of the upper limbs. Weismann-Netter-Stuhl syndrome is probably more common than previously reported and must be included in the differential diagnosis of rickets/osteomalacia, congenital syphilis and some cases of Paget's disease.
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17/285. 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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18/285. Antley-Bixler syndrome, description of two new cases and review of the literature.

    OBJECTIVE: Antley-Bixler syndrome (ABS) is a rare disorder characterized by multiple malformations of cartilage and bone including multisynostotic osteodysgenesis, midface hypoplasia, choanal atresia or stenosis, femoral bowing, neonatal fractures and multiple joint contractures and, occasionally, urogenital, gastrointestinal or cardiac defects. Since the first report in 1975, at least 34 cases (including this report) have been described. We present 2 cases of congenital hydrocephalus, suggesting the cause of craniosynostosis and midface hypoplasia is associated with ABS. CLINICAL PRESENTATION: The first case was a 1-day-old female with arnold-chiari malformation, multiple cranial synostosis, obstructive hydrocephalus and radioulnahumeral synostosis. Ventriculoperitoneal (V-P) shunting was performed when she was 7 days old. She died 42 days later due to cardiopulmonary failure. The second case was a 2-month-old female with bilateral coronal synostosis, obstructive hydrocephalus and brachycephaly. V-P shunting was done soon after her admission, and bilateral lateral canthal advancement with the floating forehead procedure was performed 1 month later. She is still alive with good development. DISCUSSION: The main anomalies of the ABS can be divided into 4 categories: craniofacial, skeletal, extremity and urogenital anomalies. They may be the result of mutation in the fibroblast growth factor receptor 2 (Ser351Cys) gene, which was confirmed in our case 2. Craniosynostosis combined with hydrocephalus created congenital increased intracranial pressure (IICP). Early V-P shunt implantation and surgical release of the closed suture and lateral canthal advancement should be done as soon as possible, ideally when the patient is younger than 3 months. CONCLUSION: Early correction of craniosynostosis was feasible and safe for one of our patients. We offer our experience in the treatment of hydrocephalus and correction of craniosynostosis to relieve IICP.
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19/285. Neonatal lethal dwarfism with distinct skeletal malformations--a separate entity?

    We describe a case of neonatal lethal dwarfism characterised by short trunk, short, stick-like tubular bones, deficient ossification of the axial skeleton and broad, sclerotic horizontal ribs. Two similar cases have previously been reported as examples of the Neu-Laxova syndrome. However, the radiological findings of the Neu-Laxova syndrome, as reported in 16 out of 40 documented cases, show a heterogeneous pattern of minor features, which differ distinctively from those found in the previous two cases and by us. A literature research did not reveal similar cases, and we therefore suggest that our case, together with the two previous cases, may represent a new distinctive form of neonatal lethal dwarfism.
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20/285. Osteoid-osteoma inducing pronounced overgrowth and deformity of bone.

    A rare complication of osteoid-osteoma is localized overgrowth and/or deformity of bone. Six of 64 cases reviewed had this growth disturbance. All patients developing deformities had their onset of symptoms before 5 years of age. Not one of the patients had limb equalization or correction of the deformity after removal of the osteoid-osteoma. The longest follow-up was 8 years. Speculations on the underlying cause for this form of growth abnormality, and the incidence in infants and very young children suggests that immediate surgical treatment is the best course of action.
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