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

R H Nyberg1, J Uotila, P Kirkinen

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

Prenatal Diagnosis
|February 16, 2005
PubMed

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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