Thanatophoric dysplasia type I

A 30 years old pregnant woman was presented for a routine ultrasound scan at 32 weeks of gestation. The first pregnancies, five years ago, was normal. There were no family history of genetics disorders malformation or relevant obstetrical past history. The previous scan was at 9 weeks and was normal. This scan that was performed at 32 weeks demonstrated a very abnormal fetal biometry and morphology. It was found the following sonographic features: severe micromelia with short and curved femurs, normal trunk length but hypoplastic and narrow thorax with short ribs, protuberant abdomen, macrocranium with frontal b…