Fig. 1
From: The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review
Patient 1 with severe dysmorphic features. There is bulging of the thoracic cage, hypertolerism, downslanting palpebral fissures, lagophtalmos of the lower eye lids, blue sclerae, a pug nose, low-set and dysplastic ears, corneal clouding [1], generalized cutis laxa [1,2,3], long fingers with campylodactyly and adducted thumbs, broad tips of fingers and toes and bilateral club feet [2, 3]. Perinatal radiography shows osteopenia, multiple fractures, large joint contractures and Wormian bones in the occipital region [4]