Discordant monozygotic twins for macrocephaly-capillary malformation

摘要

TO THE EDITOR;Macrocephaly-cutis marmorata telangiectatica congenita (MIM 602501) is a rare multiple congenital abnormalities/intellectual disability and overgrowth disorder, comprising macrocephaly, cutis marmorata, midline facial capillary malformation often involving the lips and/or philtrum, syndactyly, hemihyperplasia, central nervous system (CNS) abnormalities, and developmental delay. First described in 1997 [Clayton-Smith et al., 1997; Moore et al., 1997], this syndrome was subsequently named macrocephaly-capillary malformation (M-CM) by Toriello and Mulliken [2007]. Here, we report on the first case of discordant monozygotic twins with M-CM, and the proband has unique features.