Figure 2
From: B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation
Clinical and radiological features in reported patients. Postnatal clinical data: front, lateral and extremities view in patients 1 (a), 5 (b), and 6 (c). Note clenched hands, varus feet, arthrogryposis, midface hypoplasia, and brachycephaly, as well as ocular proptosis in some patients. Radiological features: skeletal X-ray of patient 2 showing (d) fracture of right femur, (e) radioulnar synostosis, and (f) finger deformations. 3D reconstruction and computed tomography scan showing coronal and lambdoid craniosynostosis of patients 3 (g) and 4 (h).
