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.