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  • 1
    Electronic Resource
    Electronic Resource
    The proteus syndrome (1983)
    Springer
    European journal of pediatrics 140 (1983), S. 5-12 
    Details
    ISSN: 1432-1076
    Keywords: Proteus syndrome ; Macrodactyly ; Hemihypertrophy ; Pigmented nevi ; Skull anomalies ; Lipomas
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Four boys are described with partial gigantism of the hands and/or feet, pigmented nevi, hemihypertrophy, subcutaneous hamartomatous tumors and macrocephaly, and/or other skull anomalies. Three of these patients showed an accelerated growth in their first years of life. Two suffered from cystiform pulmonary abnormalities. The children showed normal mental development with the exception of one with traumatic brain damage. Parental consanguinity was not disclosed. As a result of a review of the literature, we can say that these cases do not conform to any well defined entity and would appear to represent a ‘new’ syndrome to be categorized under congenital hamartomatous disorders. The mode of inheritance of the undoubtedly genetically determined syndrome is yet not clearly understood. We propose the term Proteus syndrome for this ‘new’ syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00661895
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    A new familial skeletal dysplasia with severely retarded ossification and abnormal modeling of bones especially of the epiphyses, the hands, and feet (1984)
    Springer
    European journal of pediatrics 141 (1984), S. 231-235 
    Details
    ISSN: 1432-1076
    Keywords: New skeletal dysplasia ; Multiple epiphyseal dysplasia ; Delayed maturation of hand feet pelvis sacrum
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Three brothers with a constitutional skeletal dysplasia characterized by an excessively retarded ossification, principally of the epiphyses, the pelvis, the hands and the feet, are reported. In the hands and feet the retarded ossification is combined with an abnormal modeling of the bones. All the children appeared normal at birth. At the time of examination a moderate degree of dwarfism could be predicted. There was no mental retardation. All laboratory investigations including chromosomal analyses and examination for acid mucopolysaccharides in the urine were normal. Parental consanguinity suggest an autosomal recessive inheritance. There is no resemblance of this disorder to any of the hitherto described groups of constitutional diseases of bones.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00572767
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    The spectrum of X-ray manifestations in Cockayne's syndrome (1981)
    Springer
    Skeletal radiology 7 (1981), S. 173-177 
    Details
    ISSN: 1432-2161
    Keywords: Cockayne's syndrome ; Bone deformities ; Children, growth and development ; Premature aging ; Thymic hormone
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Cockayne's syndrome is a rare familial disorder characterised clinically by premature aging, appearing progressively from the third year on. The radiological manifestations of eight affected children have been studied and summarised. It is concluded that a skeletal survey can provide a roentgenologic pattern suggesting the diagnosis, even when it is inconclusive from the clinical signs during the first years of life. The aetiology of this syndrome is unknown, but the authors postulate the possible role of a defect of thymic hormone which has been found in all their cases.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00361860
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    Paper (German National Licenses)
    Fulltext
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