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Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective

C A Moore1, H V Toriello, D N Abuelo

  • 1Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, USA.

American Journal of Medical Genetics
|May 2, 1997
PubMed

Insights

This study identifies a distinct phenotype within cutis marmorata telangiectatica congenita (CMTC), characterized by significant neurological abnormalities in affected children. Early recognition is crucial for managing complications and providing genetic counseling.

Area of Science:

  • Genetics
  • Pediatrics
  • Dermatology

Background:

  • Cutis marmorata telangiectatica congenita (CMTC) is a rare vascular disorder.
  • Existing CMTC classifications may not fully capture distinct clinical presentations.

Purpose of the Study:

  • To describe a specific CMTC phenotype with unique features.
  • To highlight the association with neurological abnormalities in this subgroup.

Main Methods:

  • Clinical description of 13 unrelated children.
  • Phenotypic analysis focusing on somatic growth, facial features, brain development, and connective tissue abnormalities.

Main Results:

  • Identified a distinct CMTC phenotype with a constellation of abnormalities.
  • Children in this subgroup exhibit a high risk of neurological issues, including developmental delay, mental retardation, megalencephaly, and hydrocephalus.

Conclusions:

  • This CMTC subgroup represents a recognizable and distinct clinical entity.
  • Early identification is vital for timely intervention, surveillance, and genetic counseling.

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