Chondrodysplasia punctata: X-linked recessive brachytelephalangic type (CDPX1)

Answer to the case of the week #512

Frantisek Grochal, MD¹; Peter Bielik, MD².

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.

https://sonoworld.com/TheFetus/Case.aspx?CaseId=3947&answer=1

Case report

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.

 

 

Images 6, 7, 8, and 9: 20 weeks and 3 days of pregnancy; 3D images showing flat fetal profile with midfacial hypoplasia.

 

 

Images 10, 11, 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, 14, 15, 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 (image 15 and video 2).

 

 

Images 16, 17, 18, 19, 20: 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 in the 17 and 19). The image 20 shows 3D scan of the fetal spine with widening of vertebral pedicles in lumbar region of the spine.

 

 

Images 21, 22, 23, and video 3: 20 weeks and 3 days of pregnancy; the images and video show abnormally ossified and duplicated calcaneus (arrows in the image 23).

 

 

Image 24: 20 weeks and 3 days of pregnancy; the image shows fetal hand with brachydactyly and suspected brachytelephalangia.

Table 1: 20 weeks and 3 days of pregnancy; fetal biometry characterised by mild micromelia with predominant rhizomelia (red fields - FL, HL).