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.
Nyberg
R H
RH
Central Hospital of Kanta-Hame, Hameenlinna, Finland.
Uotila
J
J
Kirkinen
P
P
Rosendahl
H
H
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D005320:Fetal Macrosomia / Q000000981:diagnostic imaging*; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011263:Pregnancy Trimester, Third; D013577:Syndrome; D013684:Telangiectasis / Q000000981:diagnostic imaging*; D016216:Ultrasonography, Prenatal