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- W2001170015 abstract "We describe 13 unrelated children with abnormalities of somatic growth, face, brain, and connective tissue including vasculature. Although the condition in these children falls under the general group of disorders known as cutis marmorata telangiectatica congenita (CMTC), the constellation of abnormalities appears to constitute a distinct and easily recognizable phenotype within this general group. In contrast to most children reported with CMTC, children in this subgroup have a high risk for neurologic abnormalities, including developmental delay, mental retardation, megalencephaly, and hydrocephalus. Early recognition of this condition is important for appropriate surveillance for known complications and parental counseling. Am. J. Med. Genet. 70:67–73, 1997. © 1997 Wiley-Liss, Inc." @default.
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- W2001170015 date "1997-05-02" @default.
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- W2001170015 title "Macrocephaly-Cutis marmorata telangiectatica congenita: A distinct disorder with developmental delay and connective tissue abnormalities" @default.
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- W2001170015 doi "https://doi.org/10.1002/(sici)1096-8628(19970502)70:1<67::aid-ajmg13>3.0.co;2-v" @default.
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