A female patient with neurological, facial, digital and renal abnormalities: another case of the neurofaciodigitorenal (NFDR) syndrome?

Clin Dysmorphol. 1997 Oct;6(4):337-40. doi: 10.1097/00019605-199710000-00006.

Abstract

We report a female patient with severe mental retardation and multiple congenital anomalies. These consist of unusual facies (grooved, nasal tip, ptosis, malformed auricles), abnormal digits, and congenital heart and renal defects. These findings strongly resemble the NFDR syndrome, first described by Freire-Maia et al.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Adult
  • Face / abnormalities*
  • Female
  • Humans
  • Intellectual Disability*
  • Kidney / abnormalities*
  • Syndrome