Identification of a COL1A2 mutation with a deletion spanning coding and intronic sequence in exon 19 and intron 19 in a fetus with osteogenesis imperfecta type II

摘要

A 28-year-old, gravida 2, para 1, woman was referred to the hospital at 22 weeks of gestation because of short limbs in the fetus. Her husband was 29 years old. She and her husband were non-consanguineous, and there was no family history of skeletal dysplasias. Prenatal ultrasound at 22 weeks of gestation revealed a fetus with shortening and angulation of the long bones and hypomineralization of the skull and bones (Fig. 1).