Fig. 1.

Patient 1 with SHORT syndrome demonstrating short stature, macrocephaly, decreased subcutaneous fat in upper trunk and head, prominent forehead, sunken eyes, small chin, and hypoplastic nares (a) along with Rieger anomaly, congenital glaucoma, and microcornea (b, c). Patient 2 with bilateral microphthalmia, maxillary hypoplasia with midface flattening, thin upper lip, broad nasal bridge and tip, and telecanthus (d). Patient 3 with right anophthalmia/severe microphthalmia, left mild microphthalmia with sclerocornea, facial asymmetry macrocephaly (e). Patient 4 with bilateral clinical anophthalmia (f) and Patient 5 with left anophthalmia (prosthesis in place) (g)