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Macrocephaly–cutis marmorata telangiectatica congenita syndrome—prenatal signs in ultrasonography
Author(s) -
Nyberg R. H.,
Uotila J.,
Kirkinen P.,
Rosendahl H.
Publication year - 2005
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1081
Subject(s) - macrocephaly , medicine , ultrasonography , congenital disease , dermatology , pathology , surgery
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.