Inherited syndrome characterized by dermoids of cornea associated with short stature.
Corneal Epithelial Dystrophy Short Stature Syndrome.
Incidence and genetic inheritance
Two cases reported in the literature; autosomal recessive.
Features include skin tumors, short stature, corneal opacity (caused by corneal dermoids), and pupillary anomalies. The condition is distinct from other corneal dermoids by its inheritance mode.
It is important to assess carefully the vision. It might be wise to obtain, before an elective surgical procedure, a consultation in ophthalmology. It is recommended to consider proper ocular protections. Careful intraoperative positioning is needed to prevent pressure point and particularly ocular damage due to external pressure leading to raised intraocular pressure and postoperative blindness.
F: Corneal dermoids and short stature in brother and sister—A new syndrome? Am J Med Genet