Fig. 1

Patient 1 at the age of 5 years. A, B Frontal and lateral views showing relative macrocephaly, frontal and parietal bossing, high forehead, flat philtrum, low set ears, short neck, short narrow chest, depressed lower sternum, distended abdomen, exaggerated lumbar lordosis, broad joints, genu valgum and flat feet. C, D X-ray spine lateral view and lower limbs (AP view) showing mild platyspondyly, globular shaped vertebrae, flat acetabulum, the greater trochanter of the left femur was separated and posteriorly displaced, rounded femoral head, broad femoral neck, wide knee space, globular epiphysis around knees, both fibulae were proximally short, broad cupped frayed sclerotic metaphysis and short bowed long bones. E Microstomia and everted fissured lower lip. F Very high arched palate and geographic tongue. G Opalescent dentin and anterior open bite. H Panoramic radiograph showing bulbous crowns of deciduous teeth, needle like roots anterior lower teeth with obliterated pulp (blue arrow), thin roots of molars (blue arrows), wide pulp chamber (red arrow), pulp stone (green arrow), premature eruption of lower right first premolar, and very thin dentin layer. Patient 2 at the age of 1 year and 9 months. I Frontal view showing relative macrocephaly, high forehead, frontal and parietal bossing, squint, bulbous nose, simple ears, low set ears, short neck, short narrow chest, pigeon chest, flared ribs and skin creases. J, K Skeletal survey showing platyspondyly, globular shaped vertebrae, flat acetabulum, absent femoral head, dumbbell shaped short long bones, wide knee spaces, faint around knees epiphyseal ossification, broad cupped frayed metaphysis, and bone rarefaction. L Intraoral photo shows opalescent dentin of the erupted deciduous dentition. M Thin upper lip, fissured lower lip, open mouth and protruded tongue