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J Am Acad Dermatol. 2008 Apr;58(4):697-702. doi: 10.1016/j.jaad.2007.11.018.

Macrocephaly-cutis marmorata telangiectatica congenita: A case report and review of salient features.

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  • 1Department of Dermatology, Cardiff University, Cardiff, United Kingdom.


Macrocephaly-cutis marmorata telangiectatica congenita is a recently recognized syndrome described mainly in the genetics literature. However, children with macrocephaly-cutis marmorata telangiectatica congenita are likely to present first to a dermatologist, with generalized cutis marmorata telangiectatica congenita as the main feature. These children are at risk of neurologic abnormalities and life-threatening complications. Therefore it is important for dermatologists to recognize this syndrome to monitor these children for potential complications. We report the case of a 2-year-old boy with macrocephaly-cutis marmorata telangiectatica congenita in association with dysmorphic facies, seizures, and facial and limb asymmetry, and we review the salient features of this syndrome.

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