Cutaneous features in 17q21.31 deletion syndrome: a differential diagnosis for cardio-facio-cutaneous syndrome

Clin Dysmorphol. 2011 Jan;20(1):15-20. doi: 10.1097/MCD.0b013e32833e8f1e.


Microdeletion of 17q21.31 causes a recurrent recognizable dysmorphic syndrome. A further four patients with 17q21.31 microdeletions are reported here in whom an earlier diagnosis of cardio-facio-cutaneous syndrome was suggested. These patients have significant similarities of facial gestalt to earlier reported 17q21.31 microdeletion patients, but a striking feature that has not been emphasized previously is the large number of naevi and other pigmentary skin abnormalities that may be present. These features, together with a coarse facial appearance, relative macrocephaly and significant learning disabilities, were what had led to the earlier diagnostic suggestion of cardio-facio-cutaneous syndrome in each of these four cases.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Chromosome Deletion
  • Chromosomes, Human, Pair 17 / genetics
  • Diagnosis, Differential
  • Ectodermal Dysplasia / diagnosis
  • Ectodermal Dysplasia / genetics
  • Facies
  • Failure to Thrive / diagnosis
  • Failure to Thrive / genetics
  • Female
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics
  • Humans
  • Infant, Newborn
  • Male
  • Skin / pathology*
  • Smith-Magenis Syndrome
  • Young Adult

Supplementary concepts

  • Cardiofaciocutaneous syndrome
  • Chromosome 17 deletion