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Manipal Journal of Medical Sciences

Abstract

Abstract: We report the case of a 36-year-old multiparous woman whose routine antenatal ultrasound at 28 weeks gestation raised suspicion of severe skeletal dysplasia. At 38 weeks, she presented with decreased fetal movements, and intrauterine fetal demise was confirmed. An emergency cesarean section revealed a stillborn fetus with craniofacial deformities, large head with soft scalp bones, and blackish skin discoloration.

Post-mortem imaging, including CT and X-ray, showed severe skeletal abnormalities, including pneumocephalus, pneumothorax, wormian skull bones, extensive demineralization, spina bifida, and multiple fractures with bowing of long bones. Based on antenatal ultrasound and postnatal radiological findings, a diagnosis of Type II OI was established.

Prenatal ultrasound plays a crucial role in early detection, although findings may be nonspecific. Postnatal diagnosis is confirmed through radiological evaluation and genetic testing.

Type II OI is associated with high perinatal mortality rates. If detected antenatally, parents should receive genetic counselling, and delivery planning should focus on minimizing fetal trauma. In cases where pregnancy is continued, Cesarean delivery with appropriate neonatal support is recommended. There is no definitive treatment, and management is primarily supportive. This case highlights the importance of prenatal imaging, post-mortem radiology, and genetic analysis in the diagnosis and understanding of this rare and fatal disorder.

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