2019-12-10 Answer to the case of the week #512 © Grochal www.TheFetus.net
Answer to the case of the week #512
January 16, 2020 - January 30, 2020
1 Femicare, Center of prenatal ultrasonographic diagnostics, Kollarova 17/A, 036 01 Martin, Slovak Republic;
2 Gynekologická ambulancia GYN BIELIK, s.r.o, Spojová 25, 974 04 Banská Bystrica, medicínske centrum EDELMA, Slovak Republic.
A 27-year-old woman (G1P0) was sent to our office at 20 weeks and 3 days of her pregnancy. Our examination revealed following findings:
- flat facial profile with midfacial hypoplasia, normal ossification of the fetal skull; normal nuchal-fold thickness;
- no signs of congenital cataract;
- male gender of the fetus;
- abnormal ossification "calcifications" of femoral proximal epiphyses;
- closed spinal defect in lumbar region of the spine (spina bifida occulta; “closed” spina bifida)
- coronal cleft in vertebral bodies;
- abnormally ossified and duplicated calcaneus;
- mild micromelia with predominant rhizomelia in biometry;
- brachydactyly with suspected brachytelephalangia.
The above-mentioned findings were suspected of chondrodysplasia punctata: X-linked recessive brachytelephalangic type (CDPX1). Following amniocentesis and genetic testing confirmed our diagnosis. The parents opted for the termination of the pregnancy.
Images 1, 2, 3, 4, and 5: 20 weeks and 3 days of pregnancy; the images demonstrate flat fetal profile with midfacial hypoplasia (1, 2); normal ossification of the fetal skull with normal nuchal thickness (3, 4); normal appearance of eye lenses - no signs of congenital cataract.