PMC4040029_01
(a) Clinical photograph of the child showing coarse facial features, bilateral proptosis, upturned tip of nose, micrognathia and low set ears. (b) Computed tomography (CT) head with 3D reconstruction image anterior view showing fused sagittal, bicoronal sutures. (c) Posterior view showing fused lambdoid sutures as well. (d) CT axial bony window showing sutural synostosis
JPN-9-33-g001.jpg
PMC4040029_01_JPN-9-33-g001.jpg
F1
The other features noted on examination included coarse facial features with bilateral proptosis, upturned tip of nose with depressed nasal bridge, micrognathia, gum hypertrophy, low set ears, narrow chest, joint contractures and bent forearms, thighs and legs with folds of the overlying skin [Figure 1].
Skeletal survey of the child. (a) X-ray chest anteroposterior (AP) view showing broad oak shaped ribs, (b) X-ray dorso lumbar spine lateral view showing inferior beaking of vertebrae, X-ray lower limb lateral view (c) and X-ray pelvis AP view (d), showing diaphyseal, metaphyseal and epiphyseal dysplasia, (e) clinical photograph showing bent limbs with skin folds
JPN-9-33-g002.jpg
PMC4040029_01_JPN-9-33-g002.jpg
F2
Skeletal survey [Figure 2] showed significant dysostosis with broad oak shaped ribs, inferior beaking of vertebrae and diaphyseal and epiphyseal dysplasia with periosteal cloaking.