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Keywords:

  • ablepharon;
  • palpebral agenesis;
  • macrostomia;
  • psychomotor retardation;
  • hypertrichosis;
  • cornea and conjunctiva (keratinization);
  • sporadic occurrence

Abstract

We describe a boy with bilateral lid agenesis and total keratinization of cornea and conjunctiva, macrostomia, psychomotor retardation, forehead hypertrichosis, ocular hypertelorism, thin lips, abnormal auricles and nose, skin alterations, and other findings. Differential diagnosis with ablepharon-macrostomia syndrome is presented. Cause is unknown.