We present a case of chondrodysplasia punctata: X-linked recessive brachytelephalangic type (CDPX1).

The following was identified on ultrasound:

• 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). Amniocentesis and genetic testing confirmed our diagnosis. The parents opted for the termination of the pregnancy.

Images 1-5: 20 weeks and 3 days of pregnancy; the images demonstrate flat fetal profile with midfacial hypoplasia (Images 1,2); normal ossification of the fetal skull with normal nuchal thickness (Images 3,4); normal appearance of eye lenses - no signs of congenital cataract.

Images 6-9: 20 weeks and 3 days of pregnancy; 3D images showing flat fetal profile with midfacial hypoplasia.

Images 10 and video 1: 20 weeks and 3 days of pregnancy; the images and video show abnormal ossification "calcifications" of femoral proximal epiphyses (red arrow in the image 11) and male gender of the fetus.

Images 12-13 and video 2: 20 weeks and 3 days of pregnancy; the images and video shows  coronal cleft in vertebral bodies (depicted in red in the image 13) and closed spinal defect in lumbar region of the spine (spina bifida occulta; “closed” spina bifida) - widening of vertebral pedicles can be seen in lumbar region of the spine (video 2).

Images 14-16: 20 weeks and 3 days of pregnancy; the images show transverse scan of the fetal spine at the level of lumbar vertebrae showing closed spinal defect (spina bifida occulta; “closed” spina bifida) - vertebral foramen is dorsally opened but covered by skin (widened vertebral pedicles are marked by arrows). The image 16 shows 3D scan of the fetal spine with widening of vertebral pedicles in lumbar region of the spine.

Images 17-18 and video 3: 20 weeks and 3 days of pregnancy; the images and video show abnormally ossified and duplicated calcaneus (arrows in the image 18).

Image 19: 20 weeks and 3 days of pregnancy; the image shows fetal hand with brachydactyly and suspected brachytelephalangia.