Facial erythema associated with short stature, absent distal phalanx, dental and nail anomalies: Case report and neuropsychological profile

Giovanni Lanzi, Cristiano Termine, Chiara Capsoni, Marina Zoppello, Severino A. Sacchi, Cesare Danesino

Research output: Contribution to journalArticlepeer-review

Abstract

We describe a patient presenting with a combination of dental agenesis, agenesis of the distal phalanx of the fifth finger, small, dystrophic toenails, permanent facial erythema, short stature and mild mental retardation. The neuropsychological profile of this patient which was studied in detail and showed a significant discrepancy between verbal and performance IQ. We discuss the differential diagnosis of this case and conclude that our patient's condition could represent a new syndrome.

Original languageEnglish
Pages (from-to)105-107
Number of pages3
JournalClinical Dysmorphology
Volume14
Issue number2
DOIs
Publication statusPublished - Apr 2005

Keywords

  • Distal phalanx
  • Facial erythema
  • Mental retardation
  • Short stature

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pediatrics, Perinatology, and Child Health
  • Anatomy

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