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  • A case of congenital myotonic dystrophy with hydrocephalus and infantile spasms
    Neubauer, David ; Kopač, Štefan
    A femal enewborn is presented whose mother and grandfather were known to have myotonic dystrophy. Despite this clear family history spontaneous preterm delivery occured, resulting in perinatal ... hypoxia. Partly on account of this fact further complications have emerged and have resulted in severe handicap. The child has now profound developmental delay, severe epilepsy and shunted hydrocephalus. The question exists whether such a condition could be avoided with better antenatal care depending on certain available diagnostic procedures or was this a severity of the disease which expressed itself with so many perinatal complications.
    Vir: Proceedings (Str. 79-82)
    Vrsta gradiva - prispevek na konferenci
    Leto - 1996
    Jezik - angleški
    COBISS.SI-ID - 5087449

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