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Skeletal Dysplasia

Sebastian's Story

Sebastian had a very severe form of Lethal Skeletal Dysplasia (it was later diagnosed as Type 2 Osteogenesis Imperfecta). At the 20 week scan he had the following measurements:

BPD: 43mm (18w1d)
HC: 152mm (18w1d)
AC: 129mm (17w6d)
FL: 9mm (11w2d)
HL: 12mm (13w1d)

He also had under ossification of the calvarium (skull) and facial bones; his limbs were also bowed.
When Sebastian was born it became clear his organs and skin were fragile; they would break just when being touched.  Sebastian also had a Microdeletion 15q11.2 (unrelated). You can read more about Sebastian here.