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 2018-01-18  Case of the week # 463  © Fabrice Cuillier
Answer to the case of the week # 463
February 1 - February 15, 2018

Cuillier F., MD*; S. Bellec MD**; J. L. Alessandri, MD***, B. Doray****, Pr. 
*Gynecologist, Hôpital Félix Guyon, 97400  Saint-Denis, Ile de la Réunion, France. 
**Echographist, CHR, 97600  Mamoudzou, Mayotte’ island, France.
***Department of Neonatology, Félix Guyon"Hospital, 97400 Saint-Denis, Ile de la Réunion.
****Department of Neonatology, Félix Guyon"Hospital, 97400 Saint-Denis, Ile de la Réunion.
Case report 1

A 25-year-old woman (G3P2), with non-contributive family history and no consanguinity, was referred to our unit at 21 weeks of pregnancy for an anomaly scan.  

Our ultrasound examination revealed the following findings:
  • Severe deficient mineralization of the fetal spine, iliac and pelvic bones.
  • Narrow thorax with no rib fractures.
  • Protuberant abdomen.
  • Normal ears with normal face profile.
  • Normal ossification of the skull.
  • Severe superior and inferior micromelia. 
  • Bilateral club foot is noted.
  • No polydactyly. 
  • Normal kidneys.
Based on the finding our prenatal diagnosis was achondrogenesis, type II.
After extensive counseling and labor induction, a stillborn female fetus was delivered. Our diagnosis was confirmed postnatally.

Images 1-4; video 1
: s
agittal views of the spine showing poor mineralization of the spine.


Images 5-12:  2D images showing normal ossified head and normal cerebellum. 2D and 3D axial and coronal images showing hypoplastic thorax and no ribs fracture. 


Images 13 and 14: 3D rendering of normal ears.



Images 15-19: 2D and 3D images showing arms markedly shortened, with short humerus, radius and ulna. 


Images 19-27:  2D and 3D images showins severe micromelia 
and birateral club foot.


Image 28: Parasagital view of the normal kidneys.

Image 29: abnormal biometry showing shortening of long bones.

Images 30 and 31: CT scan with 3D reconstrucion showing fetal bones with important shortening of long bones and poor mineralization of both femur. Also an hipoplastic chest is seen. The ultrasound and tomographic findings was confirmed in post-mortem specimen.


Case report 2

Tiffany Colucci, RT(R), RDMS, *Renee Chard, MS, CGC, *Joseph R. Wax, MD, **Charles Grimes, MD, ***Rosemarie Smith, MD, Susan Byers, RDMS

*Division of Maternal-Fetal Medicine, Maine Medical Center, Portland, Maine,  USA
**Diagnostic Radiology, Spectrum Medical Group, PA, South Portland, Maine, USA
***Clinical Genetics, Maine Medical Partners Specialty Care, Portland, Maine, USA

A 34-year-old (G1P0) with unremarkable history was sent to our hospital at 19 weeks of gestational age based on her LMP.
Our ultrasonography examination revealed 4-5 weeks delay of long bones measurements, micrognathia with apparently normal ossification of skull and extremely poor ossification of the spine.

Images 32-39: 2D images showing poor mineralization of the spine and bilateral micromelia.


Initial clinical diagnosis by geneticist from physical exam and post mortem babygram radiograph was achondrogenesis type II.  Physical examination revealed a complete U-shaped cleft of hard and soft palate, ankyloglossia with tongue small and displaced up into cleft.  Chin was markedly micrognathic.  Normal curvature of the spine with no open defect. Mesomelic shortening of arms without bowing.  Broad hands with mild brachydactyly.  Mesomelic shortening of legs, frog leg positioning, no bowing.  Feet with mild clubbing, brachydactyly of toes.  No polydactyly.

Image 40: babygram X-ray revealed marked shortening of all of the long bones.  The spine was extremely osteopenic with mild calvarial thinning.  The iliac bones were hypoplastic with notching inferiorly.  There was also notching at the metaphyseal ends of the long bones.  The ribs were short.  No fractures seen.  Moderate degree of soft tissue edema.

Results of mutation analysis confirmed the presence of a COL2A1 missense mutation consistent with achondrogenesis type II.  Likely a de novo mutation, but the small chance of confined gonadal mosaicism cannot be ruled out. The chance for recurrence in a future pregnancy is very low.


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