Macrocephaly-cutis marmorata telangiectatica congenita: A distinct disorder with developmental delay and connective tissue abnormalities

Cynthia A. Moore, Helga V. Toriello, Dianne N. Abuelo, Marilyn J. Bull, Cynthia J.R. Curry, Bryan D. Hall, James V. Higgins, Cathy A. Stevens, Sivya Twersky, Rosanna Weksberg, William B. Dobyns

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116 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)67-73
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume70
Issue number1
DOIs
StatePublished - May 2 1997

Keywords

  • congenital overgrowth
  • hemihypertrophy
  • megalencephaly
  • telangiectasia

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