Angelica Oviedo

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The rare, autosomal recessive Roberts syndrome (RBS) is characterized by tetraphocomelia, profound growth deficiency of prenatal onset, craniofacial anomalies, microcephaly, and mental deficiency. SC phocomelia (SC) has a milder phenotype, with a lesser degree of limb reduction and with survival to adulthood. Since heterochromatin repulsion (HR) is(More)
OBJECTIVE To show the long-term benefits of total and near-total resection of complex spinal cord lipomas and reconstruction of the neural placode. METHODS We analyzed 238 patients with dorsal, transitional, and chaotic lipomas who had total resection as described in part I for overall progression-free survival probability (PFS, Kaplan-Meier analysis)(More)
Non-mosaic males with a 46,XY karyotype and a MECP2 null mutation display a phenotype of severe neonatal-onset encephalopathy that is distinctly different from Rett syndrome (RTT). To increase awareness of this rare disorder, we are reporting novel findings in a sporadic case, compare them to 16 previously reported cases and establish salient criteria for(More)
BACKGROUND Limited dorsal myeloschisis (LDM) is a distinctive form of spinal dysraphism characterized by 2 constant features: a focal "closed" midline defect and a fibroneural stalk that links the skin lesion to the underlying cord. The embryogenesis is hypothesized to be incomplete disjunction between cutaneous and neural ectoderms, thus preventing(More)
OBJECTIVE Partial resection of complex spinal cord lipomas is associated with a high rate of symptomatic recurrence caused by retethering, presumably promoted by a tight content-container relationship between the spinal cord and the dural sac, and incomplete detachment of the terminal neural placode from residual lipoma. Since 1991, we have performed more(More)
Pulmonary capillary hemangiomatosis (PCH) is a rare disease characterized by pulmonary hypertension and excessive neovascularization within the pulmonary interstitium, vasculature, and airways. We describe two unusual cases of congenital PCH. Both cases had concurrent anomalies, including renal and urinary bladder agenesis and hypertropic cardiomyopathy. In(More)
Gliosarcomas are uncommon primary tumors of the central nervous system defined as exhibiting both glial and sarcomatous components. Sarcomatous change occurring in ependymal tumors is rare. We identified 11 such examples. There were 6 female and 5 male patients (median age, 18 y; range, 2 to 63). The tumors were located in the parieto-occipital (n=2),(More)
Tumors confined to the sphenoid ridge with little or no extradiploic extension are very rare; we describe here five patients with these lesions. Three were females and two males, with an average age of 33.4 years; the clinical presentation included proptosis and facial deformity. The diagnoses were three meningiomas (one "en plaque," one globous, and one(More)
Gastric hamartomata, alternatively called adenomyomata, are rare, benign lesions of the gastric wall. They can present with a wide spectrum of symptomatology. Pure pyloric adenomyomata are exceedingly rare. We are reporting a 13-day-old infant with a gastric hamartoma at the pylorus presenting with gastric outlet obstruction mimicking infantile hypertrophic(More)
Clear cell meningioma (CCM) is a rare variant of meningioma. Only 17 cases have been previously reported in children. Although it has bland cytologic features, it has a higher rate of recurrence than does conventional meningioma. This variant has been reported in sites such as spinal/intradural (lumbar and thoracic), cerebellopontine angle, and(More)