MACROCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA - A DISTINCT DISORDER WITH DEVELOPMENTAL DELAY AND CONNECTIVE-TISSUE ABNORMALITIES

We describe 13 unrelated children with abnormalities of somatic growth , face, brain, and connective tissue including vasculature, Although t he condition in these children falls under the general group of disord ers known as cutis marmorata telangiectatica congenita (CMTC), the con stellation of abnormalities appears to constitute a distinct and easil y recognizable phenotype within this general group, In contrast to mos t children reported with CMTC, children in this subgroup have a high r isk for neurologic abnormalities, including developmental delay, menta l retardation, megalencephaly, and hydrocephalus, Early recognition of this condition is important for appropriate surveillance for known co mplications and parental counseling. (C) 1997 Wiley-Liss, Inc.