Macrocephaly-cutis marmorata telangiectatica congenita syndrome-prenatal signs in ultrasonography

R Nyberg, J Uotila, P Kirkinen, H Rosendahl

    Research output: Contribution to journalArticleScientificpeer-review

    14 Citations (Scopus)

    Abstract

    A new case of macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) syndrome is described. The patient presented typical congenital findings in utero, although the syndrome was diagnosed postnatally. The M-CMTC syndrome should be considered when there is a marked fetal overgrowth and progressive macrocephaly with no indications of maternal hyperglycemia or fetal hyperinsulinism. Our patient also had unilateral pleural effusion, curved femur and frontal bossing.
    Original languageEnglish
    Pages (from-to)129-132
    JournalPRENATAL DIAGNOSIS
    Volume25
    Issue number2
    Publication statusPublished - 2005
    Publication typeA1 Journal article-refereed

    Keywords

    • M-CMTC syndrome; fetal macrosomy; macrocephaly; ultrasound; prenatal diagnosis

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