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Prenat Diagn. 2005 Feb;25(2):129-32.

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

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1
Central Hospital of Kanta-Hame, Hameenlinna, Finland.

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.

PMID:
15712320
DOI:
10.1002/pd.1081
[Indexed for MEDLINE]
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