Trisomy 21, absent nasal bones

Lech Dudarewicz, MD, Lucjusz Jakubowski, MD, PhD, Wanda Hawula, M. Sc., Magdalena Kozlowska, M. Sc.

Department of Genetics, Polish Mother"s Memorial Hospital, Lodz, Poland

 

This is a 16-week-old fetus of a 24-year-old patient with low a priori risk, with fetal karyotype 47,XX,+21 with absent nasal bones. There is clearly no echo of the nasal bones visible and at the same time the echo of the nasal cartilage distal to the missing bones is visible. Other images were not very clear, but an atrioventricular sptal defect was discernible. The fetus had nuchal edema, brachycephaly, smaller ear and hypoplasia of the middle phalanx of the fifth finger. These are some of the images we obtained showing a few of described findings.

Images 1, 2. Absent nasal bones and nuchal edema.

 

Images 3, 4. Smaller ear and hypoplasia of the middle phalanx of the fifth finger.