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Case Reports
. 2005 Feb;25(2):129-32.
doi: 10.1002/pd.1081.

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

R H Nyberg  1 , J Uotila, P Kirkinen, H Rosendahl
Affiliations
Case Reports

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

R H Nyberg et al. Prenat Diagn. 2005 Feb.

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.

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