The ablepharon-macrostomia syndrome is a very rare condition caused by a dominant mutation in the TWIST2 gene. Congenital defects include rudimentary eyelids, macrostomia, ambiguous genitalia and campodactyly. Neonates are at risk of severe corneal exposure without intervention. Previous reports have often described the eyelids as being absent, and requiring extensive reconstructive surgery. The authors refute this and describe their surgical management of three cases using only skin grafts, combined with release of the septum and recession of the levator for the upper lid and a rotation flap for the lower lids. In each of their cases it was found that there was sufficient conjunctiva and Muller’s muscle to allow enough descent of the upper lid to protect the cornea, and that it is safe and effective to place full-thickness skin grafts directly onto the conjunctiva or Muller’s muscle.
Ablepharon-macrostomia syndrome
Reviewed by James Hsuan
Long-term results of the surgical management of the upper eyelids in ‘Ablepharon’- Macrostomia syndrome.
