Figure 5: Clinical features of B3GALT6-related phenotypes.
From: Expanding the phenome and variome of skeletal dysplasia
(a–k) Diffuse osteopenia, hip dysplasia, C-shaped levoconvexity scoliosis of the thoracolumbar spine, exaggerated lumbar lordosis, bilateral posterior radial head dislocation, lacunar skull appearance, bilateral acetabular dysplasia, bilateral femoral head subluxation, bilateral hallux valgus, metatarsus adductus, and fused bilateral proximal tibial physis. (l–n) Progeroid facial appearance, depressed nasal bridge with upturned nostrils, smooth lips, arching eyebrows, deep-set eyes, long eyelashes, arthrogryposis, and arachnodactyly.
