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  • Aase syndrome  (1)
  • Malformation-retardation syndrome  (1)
  • 1
    Electronic Resource
    Electronic Resource
    The Aase syndrome (1986)
    Springer
    European journal of pediatrics 145 (1986), S. 153-157 
    Details
    ISSN: 1432-1076
    Keywords: Aase syndrome ; Hypoplastic anaemia ; Erythropoietic precursor ; Triphalangeal thumbs ; Cleft lip/palate
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 5-month-old boy with congenital hypoplastic anaemia and triphangeal thumbs, known as the Aase syndrome, is described. In addition he had unilateral cleft lip and palate and abnormal dermatoglyphics. Only ten cases have been reported previously; these are reviewed. This case is the third patient reported to have the Aase syndrome who also has a cleft lip. Bone marrow cultures failed to stimulate production of erythropoietic precursors.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441882
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Partial monosomy 10p syndrome (1981)
    Springer
    European journal of pediatrics 137 (1981), S. 243-246 
    Details
    ISSN: 1432-1076
    Keywords: Partial monosomy 10p ; Malformation-retardation syndrome ; De novo deletion 10p
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 7-year-old girl is described with a de novo deletion of the short arm of chromosome 10 (qter→p13:). The clinical features of: mental retardation, a large asymmetric head, antimongoloid slant, exophthalmos, epicanthus, ptosis, abnormal ears, pectus excavatum and widely spaced nipples are compared with those of five earlier reported cases with a deletion 10p. The data available suggest the existence of a clinically recognizable monosomy 10p syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441326
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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