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2012-01-24-09 Case of the week #326 © Bronshtein www.TheFetus.net


Answer to the case of the week #326

 August 30th, 2012 - September 13rd, 2012

Moshe Bronshtein, MD

Department Obstetrics Gynecology, Rambam Medical Center, Haifa, 31096 Israel.

(Edited by F.G.)

 


Case report

A 26-year-old G4P3 woman from a consanguineous couple (she and her husband are first-degree cousins) presented to our department at 18 weeks of pregnancy.

Her first child is healthy, but the second child was born with a rare autosomal recessive genetic disorder and has died a few hours after delivery.

During her third pregnancy she underwent ultrasound examination at 15 weeks in another institution. The result of the examination was reported to be normal. Later she presented to our unit at 22 weeks. Our examination revealed the same diagnosis as the second child had and so the pregnancy was terminated afterwards.

Her fourth pregnancy had similar scenario - normal result of the ultrasound examination in another institution at 15 weeks, but positive findings in our unit at 18 weeks. Our examination revealed:

- normal amniotic fluid volume;
- overall normal structure of fetal organs;
- abnormal facial morphology - flat nose, triangular mouth, and exophthalmia;
- cleft of the soft palate;
- normal head circumference, but abnormal shape of the head - trigonocephaly;
- periventricular calcifications in the vicinity of the lateral cerebral ventricles;
- short ribs with hypoplastic narrow thorax.

In all above mentioned affected fetuses the definitive genetic diagnosis was lethal osteosclerotic bone dysplasia - Raine syndrome.


Images 1, 2: 18 weeks of gestation; the images show periventricular calcifications in the vicinity of the lateral cerebral ventricles (arrows on the image 2).

 

Videos 1, 2: 18 weeks of gestation; the images show periventricular calcifications in the vicinity of the lateral cerebral ventricles.

 

Image 3: 18 weeks of gestation; the image shows abnormal shape of the fetal head - trigonocephaly.



Images 4, 5: 18 weeks of gestation; the images show transverse scan of the fetal head at the level of the soft palate. Cleft of the soft palate can be seen (arrows on the image 5).



Video 3: 18 weeks of gestation; the video shows transverse sweep through the fetal head demonstrating the cleft of the soft palate.



Image 6: 18 weeks of gestation; the images shows tangential scan of the lips demonstrating triangular mouth of the fetus.



Video 4: 18 weeks of gestation; the video shows sagittal scan of the hypoplastic narrow fetal thorax.



Images 7, 8: 18 weeks of gestation; 3D scans of the fetal face showing flat nose, triangular mouth, and exophthalmia.

 

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