A case of antenatal-suspected thanatophoric dysplasia type 1 turning out as rather osteogenesis imperfecta type 2

Case: A 26 year old patient 2 gravida, 0 para was referred to our prenatal diagnosis unit at 22 weeks' gestation because of a previous scan showing strong suspicion of thanatophoric dysplasia type 1. The parents were nonrelated. Family history was unremarkable. Material and methods: Abdominal sonography was performed using GE Voluson E8 RSA. Chromosome analysis from a sample of amniotic fluid was performed by optical microscopy. Amniotic fluid cells were subjected to a mutation analysis regarding the FGFR3-gene. A postpartum fetogramm was performed. Results: Fetal ultrasound scan showed skeletal abnormalities wi…