Rare case of congenital ocular disease with low intelligence level and extremity abnormalities in two siblings

We report a case of concomitant congenital ocular disease, low intelligence level and extremity abnormalities in two siblings. A 20-year-old Chinese male with distinctive craniofacial features and extremity abnormalities was diagnosed with bilateral keratoconus and congenital cataract. Craniofacial features included ptosis, small palpebral fissure, epicanthus, hypertelorism and a broad nasal bridge. He also suffered congenital deafness of uncertain etiology. His younger brother also had bilateral congenital cataract who similarly presented with hypertelorism, a broad nasal bridge and extremity abnormalities. Both the siblings had a lower intelligence level than their contemporaries. We hypothesize that the two siblings have a distinctive phenotype, which may represent a previously undescribed syndrome.