Case 1:
We received a 26 days male newborn who was referred from a regional hospital for multiple fractures and limb deformities discovered at birth. He was born at 39 weeks through vaginal route with breech presentation and a birth weight of 2700g. It was an uneventful twin pregnancy. Antenatal laboratory tests were normal. Three ultrasounds were done during prenatal period with no reported abnormalities. There was no consanguinity, no family history of short stature but limb deformity from a 6 year old cousin. The twin sister was in good health at birth.
At clinical presentation, anthropometric parameters included a weight of 3200 g (-1 SDS), height 47 cm (- 2 SDS) and head circumference of 35 cm (+ 0.5 SDS). The child presented with reduced mobility, frontal bossing, white sclerae, moderate respiratory distress, bowed legs and shortened limbs (Figure 1 ). Limbs X-rays showed multiple diaphyseal fractures of long bones, demineralization and curved bones (Figure 2 ). Transfontanellar brain ultrasound and cardiac ultrasound were normal. Laboratory findings included normal calcium (97.2 mg/l) and increased alkaline phosphatases (374.68 IU/L). Genetic tests are not yet available in our country. According to clinical and radiographic findings, Osteogenesis Imperfecta was the more likely diagnosis of this bone fragility. We suggested OI type III as diagnosis due to early presentation. For management of this condition, the child performed orthopedic treatment for recent fractures and oral Vitamin D supplements. The child is actually 9 months old with a weight of 7750 g (-1 SDS), a height of 57 cm (- 3.5 SDS) and a head circumference of 44 cm. He recently received the first dose of bisphosphonates. He performed a lumbar spine X-ray which revealed tiered vertebral collapse from T12 to L3 with no spinal deformities (Figure 3 ). The physiotherapist tried to maintain a semi-sitting position to avoid spinal deformities.