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  • Holoprozencefalija - prikaz primera = Holoprosencephaly - a case report
    Paro Panjan, Darja ...
    Background. Holoprosencephaly is the result of an embryologic defect of prechordal mesoderm which lead to incomplete morphogenesis of the forebrain and midline facial structures. Usualy it is a ... sporadic condition but familial cases are also reported. It may be associated with chromosomal aberations and monogenic syndromes. Methods. This paper is a case report of the newborn with alubar holoprosencephaly. Clinical variability and causal heterogeneity of holoprosencephaly are discussed. Conclusions. When the midline facial defects are detected by the clinical examination of the child, incomplete morphogenesis of the central nervous system must be suspected. The prenatal diagnosis is important in families with high risk for holoprosencephaly and inpregnant women from groups with higher risk for brain anomalies.
    Vir: Zdravniški vestnik : glasilo Slovenskega zdravniškega društva = Slovenian medical journal = journal of Slovenian Medical Association. - ISSN 1318-0347 (Letn. 68, št. 10, okt. 1999, str. 559-561)
    Vrsta gradiva - članek, sestavni del
    Leto - 1999
    Jezik - slovenski
    COBISS.SI-ID - 10546649

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