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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 144 (1985), S. 348-354 
    ISSN: 1432-1076
    Keywords: De Barsy syndrome ; Progeroid syndromes ; Cutis laxa
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report two families with seven siblings with de Barsy syndrome. Characteristic features include severe mental retardation, hypermobility with athetoid movements, grimacing, muscular hypotonia, laxity of small joints and brisk deep tendon reflexes, progeroid aspect with cutis laxa, atrophy of skin with hyperpigmentation, isolated depigmentations, reduction of subcutaneous fatty tissue, translucent vein pattern, short stature, frontal bossing in the young child, large prominent ears with dysplastic helices and corneal coulding or cataracts. The syndrome probably has autosomal recessive inheritance.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric surgery international 7 (1992), S. 461-463 
    ISSN: 1437-9813
    Keywords: Gastric outlet obstruction ; Ectopic pancreas ; Pancreatitis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Gastric outlet obstruction caused by ectopic pancreas in infants is very uncommon; there are few reported cases in the literature and in these cases the diagnostic and operative procedures were notably dissimilar. In our patient the diagnosis was established by sonography, which appears not to have been previously reported. Total excision of the tumor was possible despite the extensive inflammatory response surrounding the ectopic pancreatic tissue.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Pediatric radiology 22 (1992), S. 182-186 
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Cerebral ultrasound (US) imaging was performed as a screening procedure in approximately 3,600 neonates and infants over a period of 18 months. Hyperechoic lesions in the basal ganglia and thalamic region were detected incidentally in 15 of these patients. Clinical diagnoses included cytomegalovirus infection, asphyxia, rotavirus infection, prematurity, amniotic infection, dysmorphic stigmata, hyperbilirubinemia, congenital heart disease, and diabetic fetopathia. Lesions showed a single punctate (n=5), multiple punctate (n=8), or stripe-like pattern (n=2), with no disease-specific distribution. Computed tomography performed in two of the 15 patients was normal. Lesions resolved within four to seven months in four of eleven cases who had follow-up studies, whereas echogenicities persisted in the remaining seven patients over a period of observation ranging between one to 15 months. Our results indicate that hyperechoic lesions in the basal ganglia and thalamic region may be associated with congenital infections and asphyxia, but could indicate some other unknown pathology. No correlation was found between the morphology of foci and both clinical diagnosis and results of follow-up studies.
    Type of Medium: Electronic Resource
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