Skip to Main Content

We have a new app!

Take the Access library with you wherever you go—easy access to books, videos, images, podcasts, personalized features, and more.

Download the Access App here: iOS and Android. Learn more here!

At a glance

Inherited syndrome characterized by dermoids of cornea associated with short stature.

Synonym

Corneal Epithelial Dystrophy Short Stature Syndrome.

Incidence and genetic inheritance

Two cases reported in the literature; autosomal recessive.

Clinical aspects

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.

Anesthetic considerations

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.

References

+
Guizar-Vasquez  J, LuengasMunoz  F, Antillon  F: Corneal dermoids and short stature in brother and sister—A new syndrome? Am J Med Genet 8:229, 1981.  [PubMed: 7282777]

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.