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2012-12-10-12 Case of the week # 345 ©Fabrice Cuillier www.TheFetus.net

 
Answer to the case of the week # 345

May 23, 2013 - June 06, 2013
 

 
Fabrice Cuillier, MD1; D. Mardamootoo2; M. Balu, MD3; J. L. Alessandri, MD4.
  

1. Service de Gynécologie, Hôpital F. Guyon, 97400 Saint-Denis, Réunion, France;
2. Midwife student, Service de Gynécologie, Hôpital F. Guyon, 97400 Saint-Denis, Réunion;
3. Radiology, Hôpital F. Guyon, 97400 Saint-Denis, Réunion, France;
4. Neonatology Unit, Hôpital F. Guyon, 97400 Saint-Denis, Réunion, France. 


 
 
Case report
 
The anomaly showed in the case represents a variety of Jarcho-Levin syndrome - spondylo-costal dysplasia. The patient was first time seen at 13 weeks and her ultrasonographic examination found abnormal spine of the fetus. Following ultrasonographic examination was done at 15 weeks of pregnancy and revealed female fetus with kyphoscoliosis, hemivertebrae, ten ribs on the left side, fusion of the 7th, 8th, and 9th rib of the left side, and normal number of ribs of the right side. Fetal cranium and facial profile were normal. Kidneys and urinary bladder were normal.

The parents opted for the continuation of the pregnancy, but agreed with amniocentesis which revealed normal karyotype (46, XX).

Similar ultrasonographic findings weer found during later scan at 22 weeks. At
 28 weeks a spiral CT scan was performed revealing two thoracic hemivertebrae, kyphoscoliosis, ten ribs on the left side with fusion of the 7th, 8th, and 9th rib of the same side.

Although biometry of the long bones was around 5th percentile, the rest of the fetal biometry was concordant with gestational age throughout the pregnancy. 

The diagnosis of spondylo-costal dysostosis was presumed. The neonate was delivered at 34 weeks with normal postnatal adaptation without need of tracheal intubation and ventilation. Postnatal X-ray confirmed prenatal findings and the diagnosis of spondylo-costal dysostosis was proved.

Images 1, 2, 3, and 4: 13 weeks of the pregnancy. The images show abnormal angulation of the fetal spine.

 

 

Images 5, 6, 7, 8, 9,10, 11, and 123D views of the fetal spine and thorax at 14 weeks showing angulation of the spine, hemivertebrae, and fusion of the 7th, 8th and 9th ribs of the left side (there were just 10 ribs present on the left side and 12 ribs on the right side).  

 

 


  

 

Images 13, 14: 13 weeks normal fetal hands.

 

Images 15, 16, 17, and 18: 15 weeks; 2D views of the normal cranium, profile, orbits, and kidneys.  

 

 


Images 19, 20, 21, 22, and 23: 28 weeks; spiral CT scan showing the fetus with angulated spine, hemivertebrae, ten ribs of the left side, and fusion of the 7th, 8th, and 9th ribs on the left side

 

 



Image 24
Postnatal chest X-ray showing angulated spine, hemivertebrae, ten ribs of the left side, and fusion of the 7th, 8th, and 9th ribs on the left side.



 
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