Case of the Week # 508

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Fabien Ho

Case of the week # 508
November 7 - November 21

Dr Ho F.1, Dr Balu M1, Dr Cuillier F.2, Dr J-L Alessandri.3

1. Radiologist, private sector, 97400 Saint-Denis, Reunion Island, France.
2. Department of Obstetrics, Felix Guyon Hospital, Reunion Island, France.

3. Department of Paediatrics, Felix Guyon Hospital, 97400 Saint-Denis, Reunion Island, France.ʉ۬


Case report:
This patient had been referred to our hospital at 23 weeks of gestational age for abnormal bone findings.

This was her fifth pregnancy. Among the previous four pregnancies, she reported a case of intrauterine death at 23 week of pregnancy for fetal "dwarfismâ€. The whole story was unclear, it happened in another hospital and we were unable to retrieve the medical datafiles.
There was no reported consanguinity and both parents were healthy without any obvious particular features. 

Our US examination at 23 week 5 days revealed the following anomalies.
We also performed a fetal CT scan at 28 weeks of gestation.

Images 1-9.
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Answer

Answer to the case of the week # 508
November 7 - November 21

Dr Ho F.1, Dr Balu M1, Dr Cuillier F.2, Dr J-L Alessandri.3

1. Radiologist, private sector, 97400 Saint-Denis, Reunion Island, France.
2. Department of Obstetrics, Felix Guyon Hospital, Reunion Island, France.
3. Department of Paediatrics, Felix Guyon Hospital, 97400 Saint-Denis, Reunion Island, France. 


Case report
This patient had been referred to our hospital at 23 weeks of gestational age for abnormal bone findings.
This was her fifth pregnancy. Among the previous four pregnancies, she reported a case of intrauterine death at 23 week of pregnancy for fetal "dwarfismâ€. The whole story was unclear, it happened in another hospital and we were unable to retrieve the medical datafiles. There was no reported consanguinity and both parents were healthy without any obvious particular features.
Our US examination at 23 week 5 days revealed the following anomalies.
We also performed a fetal CT scan at 28 weeks of gestation.

Images 1-9: usual skull without obvious bowing under probe pressure, mild narrow chest, no obvious fractures, all long bones were short, bowed long bones, especially femur, tibia and fibula on both left and right sides ; and also radius and ulna on the left side. Usual spine appearance on US.
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Bony callus, large fontanel, wormian bones and need for morphine were the decisive elements of our final diagnosis: osteogenesis imperfecta, autosomal recessive form (type VII) (OMIM #610682).
The past history of lethal dwarfism was most likely an OI type 7 as well with a more severe phenotype.


References

https://omim.org/entry/610682 OI type VII
https://omim.org/entry/211350 Kyphomelic dysplasia
https://omim.org/entry/601559 Stuve Wiedemann syndrome
https://omim.org/entry/255800 Schwartz-Jampel syndrome

[Book in French] Anomalies osseuses constitutionnelles, Gilles GENIN, Sauramps Medical ISBN-10: 284023534X; ISBN-13: 978-2840235347


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