• Title of article

    Ectodermal Dysplasia Showing the Clinical Overlap between Hay Wells Syndrome and Bowen Armstrong Syndrome

  • Author/Authors

    Rachisan, Andreea Department of Pediatrics - University of Medicine and Pharmacy "Iuliu Hatieganu" - Cluj Napoca - Romania , Cainap, Simona Department of Pediatrics - University of Medicine and Pharmacy "Iuliu Hatieganu" - Cluj Napoca - Romania , Andreica, Mariana Department of Pediatrics - University of Medicine and Pharmacy "Iuliu Hatieganu" - Cluj Napoca - Romania , Miu, Nicolae Department of Pediatrics - University of Medicine and Pharmacy "Iuliu Hatieganu" - Cluj Napoca - Romania

  • Pages
    5
  • From page
    121
  • To page
    125
  • Abstract
    Background: Several clinical entities combine ectodermal dysplasia (ED) and cleft lip and/or palate (CL/P). These disorders have been recognized with a narrow phenotypic spectrum and very similar clinical features. Case Presentation: We report a case with a clinical diagnosis of Hay Wells syndrome (ankyloblepharon, ED and CL/P), who is a descendent of a mother with Bowen Armstrong syndrome (ED, CL/P, mental retardation). Conclusion: Due to the clinical similarities, we suggest that Hay Wells syndrome and Bowen Armstrong syndrome may be the same clinical entity with variable manifestations. This case highlights the difficulties in trying to classify the ED syndromes on clinical features.
  • Keywords
    Ectodermal Dysplasia , Cleft Lip And/Or Palate , Ankyloblepharon , Mental Retardation
  • Journal title
    Astroparticle Physics
  • Serial Year
    2011
  • Record number

    2442943