Article Text

PDF

Two sibs with cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects: a new recessive syndrome?
  1. A Seres-Santamaria,
  2. J L Arimany,
  3. F Muñiz
  1. Department of Genetics, Clínica Teknon, Barcelona, Spain.

    Abstract

    Hay and Wells in 1976 reported seven patients from four families who had an inherited condition of which the main features were ankyloblepharon, ectodermal defects, and cleft lip and palate. The inheritance pattern was determined to be autosomal dominant. This condition is known as AEC syndrome or Hay-Wells syndrome. We report a family with two sibs showing some of these features and congenital adhesions between the upper and lower jaws (alveolar synechiae). There seems to be a recessive pattern of inheritance as neither of the parents has any features of the syndrome. This could be described as a recessive form of Hay-Wells syndrome with additional features or be named as a new syndrome.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.