Macrocephaly–cutis marmorata telangiectatica congenita syndrome—prenatal signs in ultrasonography

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. Copyright © 2005 John Wiley & Sons, Ltd.