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  • Sindrom cri du chat - prikaz primera = Cri du chat syndrome - case report
    Besednjak-Kocijančič, Lilijana, dr. med. ...
    Background. The article describes a patient with clinical features of the Cri du chat syndrome. The syndrome is relatively rare chromosomal disorder caused by a deletion of the tip of the short arm ... of chromosome 5. Cry that sounds like the meowing of a cat, typical facial dysmorphism, primordial growth deficiency and severe psychomotor retardation with microcephaly and hypotonia are the hallmark clinical features. Severity of the phenotype is associated with the extend of the deletion, so FISH is indicated. A level of developmental delay strongly correlates also with early special schooling and supportive home environment. Conclusions. The presented boy lives at home but he daily attends social, verbal and motorical education in a medical institute. In eleven months of schooling a big progress in psychomotor development was achieved.
    Vir: Zdravniški vestnik : glasilo Slovenskega zdravniškega društva = Slovenian medical journal = journal of Slovenian Medical Association. - ISSN 1318-0347 (Letn. 70, št. 11, nov. 2001, str. 675-677)
    Vrsta gradiva - članek, sestavni del
    Leto - 2001
    Jezik - slovenski
    COBISS.SI-ID - 14275289

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    Digitalna knjižnica Slovenije - dLib.si

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