Osteogenesis Imperfecta in neonatal period in Cameroon: A ca
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Early forms of Osteogenesis Imperfecta should be considered as main etiology of bone deformities in newborns. Osteogenesis Imperfecta is a genetic disorder of connective tissue leading to bone fragility. Diagnosis of this condition can be considered during pregnancy, at birth or during childhood. Early onset forms are severe with high mortality rate during pregnancy or the first hours of life.

We received a 26 day old 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 2700 g. 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. Limb deformity was found in a 6 year-old cousin but the underlying cause was unclear. The twin sister was in good health at birth.

At clinical presentation, anthropometric parameters included a weight of 3200 g, height 47 cm, and head circumference of 35 cm. The child presented with reduced mobility, frontal bossing, white sclerae, moderate respiratory distress, bowed legs, and shortened limbs. Limbs X-rays showed multiple diaphyseal fractures of long bones, demineralization, and curved bones. 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). According to clinical and radiographic findings, Osteogenesis Imperfecta was the more likely diagnosis of this bone fragility.

OI type III as diagnosis were suggested due to early presentation. For management of this condition, the child received orthopedic treatment for recent fractures and oral Vitamin D supplements. The child is currently 9 months old with a weight of 7750 g, a height of 57 cm, and a head circumference of 44 cm. He recently received the first dose of bisphosphonates. A recent lumbar spine X-ray revealed tiered vertebral collapse from T12 to L3 with no spinal deformities. The physiotherapist tried to maintain a semi-sitting position to avoid spinal deformities.

Osteogenesis Imperfecta is a rare inherited disease leading to abnormal bone fragility. Early forms are reported to be severe. Therefore, caregivers should be aware of this condition when bone deformities and fractures are observed in a neonate. Genetic counseling and prenatal diagnosis should be considered in these families.

Source: https://onlinelibrary.wiley.com/doi/full/10.1002/ccr3.3572?af=R