Acro-dermato-ungual-lacrimal-tooth-like syndrome: Report of a family with variable expression

Maria Francesca Bedeschi, Fabienne Escande, Melissa Bellini, Federica Natacci, Ugo Cavallari, Faustina Lalatta

Research output: Contribution to journalArticlepeer-review

Abstract

We report the case of a young boy with fine hair, mild nail dysplasia, blocked nasolacrimal ducts, absence of central incisors, bilateral oligodactyly of feet and anal stenosis. His father showed the same spectrum of anomalies with mild expression. He had mild nail dysplasia, blocked nasolacrimal ducts, inferior dental cysts with consequent premature tooth loss, frequent dental decays consequent to enamel abnormality and cutaneous syndactyly of the second and third right toe. The acro-dermato-ungual-lacrimal-tooth syndrome was suspected and molecular analysis of the P63 gene was performed, but no mutation was found. Although P63 gene analysis was negative, we think that both cases show clinical overlap with the acro-dermato-ungual-lacrimal-tooth syndrome and confirm the wide expression of this condition, even in the same family.

Original languageEnglish
Pages (from-to)239-241
Number of pages3
JournalClinical Dysmorphology
Volume15
Issue number4
DOIs
Publication statusPublished - Oct 2006

Keywords

  • Acro-dermato-ungual-lacrimal-tooth syndrome
  • Ectodermal dysplasia
  • P63

ASJC Scopus subject areas

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

Fingerprint Dive into the research topics of 'Acro-dermato-ungual-lacrimal-tooth-like syndrome: Report of a family with variable expression'. Together they form a unique fingerprint.

Cite this