Fig. 2.

Clinical findings of the two patients. Patient 1 (a, b, g, i) and patient 2 (c–f, h, j–l) show disproportionate short stature, short trunk, severe kyphoscoliosis, generalized bone deformities, genua valga, elbow contracture; dysmorphic signs: frontal bossing, blue sclerae, flat oval face, broad nose (a–d); hand deformities with finger contractures and spatulate terminal phalanges (e, f); foot deformities, i.e., flat foot, hallux valgus, toe contractures (g); hyperextensible skin (h, i); marked hypermobility of small joints (j–l).