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  • 1990-1994  (1)
  • Skeletal dysplasia  (1)
  • 1
    Electronic Resource
    Electronic Resource
    A new lethal sclerosing bone dysplasia (1991)
    Springer
    Skeletal radiology 20 (1991), S. 117-119 
    Details
    ISSN: 1432-2161
    Keywords: Skeletal dysplasia ; Congenital defects ; Autosomal recessive inheritance ; Osteosclerosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A neonate is described with a lethal sclerosing bone dysplasia associated with prenatal fractures and craniofacial abnormalities including microcephaly, exophthalmos, hypoplastic nose and mid-face, small jaw and nodular hyperplasia of the gums. Parental consanguinity suggests that an autosomal recessive mutation is the likely aetiology.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00193823
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