Case presentation An 11-year-old boy, born to parents in a consanguineous marriage, presented after sustaining a minor injury to his right thigh. He complained of localized pain and was unable to move his right lower limb. His medical history revealed a previous fracture in the same leg, which had been managed orthopedically with a good recovery. Clinical examination (Figure 1) Dysmorphic facial appearance with frontal bossing and a prominent nose Short stature Brachydactyly affecting both hands Figure 1 .
Images captured during the patient’s clinical examination. Source: Cureus X-ray of the craniofacial skeleton and hands (Figure 2) Obtuse-angled mandible Shortened distal phalanges in several digits Figure 2 . Radiographs of the craniofacial skeleton and hands. Source: Cureus X-ray of the femur (Figure 3) Transverse fracture at the mid-diaphysis Abnormally increased bone density…
