Ablepharon macrostomia syndrome.
The ablepharon macrostomia syndrome is a severe congenital condition that includes total absence of the upper and lower eyelids, failure of lip fusion that results in an enlarged, fish-like mouth, abnormally shaped ears and nose, absence of lanugo, ventral hernia, and ambiguous genitalia. In one such patient we were able to reconstruct the eyelids in a three-stage procedure. Redundant skin from the retroauricular area was used to create full-thickness grafts. The child later underwent successful mouth reconstruction. Although developmentally delayed, the child was eventually able to sit unassisted, to grasp objects, and to follow light with some fixation. Nystagmus was severe. The retina was attached in one eye and detached in the other. Corneal opacities present initially improved in one eye, allowing a view of the pupil and a normal anterior chamber.
D003315:Cornea / Q000002:abnormalities; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008265:Macrostomia / Q000150:complications / Q000473:pathology*