In 1975, Gorlin et al1 and Sensenbrenner et al2 described a syndrome with a striking phenotype. Gorlin et al applied the acronym SHORT (short stature, hyperextensibility of joints and/or hernia, ocular depression, Rieger anomaly, and teething delay). Eight additional cases have since been reported in the genetic literature,3-5 and all but 1 have had the Rieger anomaly. Megalocornea was observed in 3 children,1,3,4 1 of whom had mildly elevated intraocular pressure.4
To date, there has been no mention of the SHORT syndrome in the ophthalmologic literature to our knowledge. We describe a child who had congenital glaucoma and SHORT syndrome.
Report of a Case.
A 9-year-old boy with SHORT syndrome was noted to have enlarged cloudy corneas, Rieger anomaly, and elevated intraocular pressures at birth. Bilateral trabeculotomies were performed, and he subsequently required 2 additional glaucoma procedures and a penetrating
Brodsky MC, Whiteside-Michel J, Merin LM. Rieger Anomaly and Congenital Glaucoma in the SHORT Syndrome. Arch Ophthalmol. 1996;114(9):1146-1147. doi:10.1001/archopht.1996.01100140348022