We report a severe form of osteogenesis imperfecta (OI) type VIII from a lower-middle income country. This is the first case report of this type in Tanzania. The term neonate was delivered normally via spontaneous vaginal delivery and presented at the neonatal unit with features of shortened limb girdles and macrocephaly. The long bones had multiple fractures. He was diagnosed clinically to have OI or a type of metaphysial dysplasia. A plain X-ray showed multiple fractures of the long bones. The eyes did not have blue sclerae. Clinically, the generic diagnosis of OI was made.Genetic testing revealed typical prolyl 3-hydroxylase 1 (P3HI) gene mutations and a variant coordinateNM_001243246.1:c.1095C>G p, indicating a severe, fatal form of autosomal-recessive OI type VIII which presents with white sclerae. This rare variant is described here for the first time in our setting. This case highlights the need for genetic testing.

Caudal regression is a rare complex disorder impacting the formation of the caudal segment of the spine and spinal cord. We report a preterm newborn baby who was referred to us due to respiratory distress syndrome and bilateral knee contracture. A clinical examination and a radiographic skeletal survey revealed a short spinal cord with complete agenesis of the lumbar, sacrum and coccygeal spine, and hypoplastic iliac bones with bilateral knee contractures. The mother did not have diabetes. The long-term outcome is not well-known in our set-up.

We report a newborn with neurocristic cutaneous hamartoma of the scalp. He was delivered at term via caesarean section due to a previous scar and presented at the neonatal unit on the fifth day with giant congenital nevi on the scalp and disseminated melanocytic nevi throughout the body. The MRI scan of the brain showed a defect at the occipital region with herniation of the occipital lobes and ventricles through the defect, with infratentorial brain parenchyma exhibiting normal signal return and intact cerebellum. The initial diagnosis was a giant haemangioma, which has ruptured, and possible cytomegalovirus infection, causing ‘blueberry muffin’ syndrome. On follow-up, the hamartoma/haemangioma-like mass regressed, and a large well-demarcated melanotic patch on scalp and large encephalocele were seen. This infant is now being scheduled for neurosurgical intervention.