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2011-06-03-08 Answer to the case of the week #302 © Cuillier

Answer to the case of the week #302

September 15, 2011 - September 29, 2011

Fabrice Cuillier, MD.*, J.L. Alessandri, MD.**, F. Cartault, MD.***

*   Department of Gynecology, Félix Guyon Hospital, 97400 Saint-Denis, Ile de la Réunion, France.
**  Department of Neonatology, Felix Guyon Hospital, 97400 Saint-Denis, Réunion, France.
*** Department of Genetics, Felix Guyon Hospital, 97400 Saint-Denis, Réunion, France. 

Case report
This is a case of a 28-year-old G3 P0. Her first pregnancy was terminated for the trisomy 21 and the second pregnancy resulted in a spontaneous abortion.  
This pregnancy was uneventful at the beginning. The first trimester scan was negative, NT=1 mm, the triple test was normal and fetal karyotype was normal as well, 46 XX.

The ultrasound exam at 22 weeks of gestation was reported as normal.

Patient was referred to our department at 28 weeks of gestation and her ultrasound exam revealed the following findings:
  • Facial dysmorphic features - frontal bossing, anophthalmia on the right, midline cleft lip, single nostril 
  • Low set, malformed right ear
  • Fusion of thalami and monoventricle

The follow-up ultrasound at 29 weeks confirmed the previous findings. The intracranial findings suggested some form of holoprosencephaly. Coronal views showed nearly median cleft lip and a single nostril. Both hands, feet and heart did not show any abnormalities. 

The couple was counceled and decided for the pregnancy termination based on the unfavorable prognosis for the fetus.

The pathology and MRI examination after pregnancy termination confirmed our ultrasound findings.

The final diagnosis was Cerebro-oculo-nasal syndrome. To eliminate a particular form of holoprosencephaly, routine laboratory blood tests and G-banded chromosome were done : SHH (Sonic Hedgehog), ZIC2, SIX3 and TGIF, PTCH, GLI2, TMEM1 AND FBXW11 mutational analysis were performed and no mutations were discovered.
DNA Microarray revealed a 108 Kb duplication of the region on the chromosome 7p22.1. This duplication involves gene RBAK which is responsible for the tumorigenesis and cell cycle control.

Images 1-4: 28 weeks, images show an extreme frontal bossing, abnormal facial profile, monoventricle.



Images 5-8: 3D-images showing the dysmorphic facial features, frontal bossing, midline cleft lip, the right eye seemed missing. 



Images 9,10: 3D-images of the malformed right ear which is small and low-set .


Images 11,12: 29 weeks, image 11 shows the fused thalami and monoventricle. Image 12 shows the sagittal view of the brain with monoventricle.


Images 13,14: Axial view of the fetal brain.


Images 15,16: Image 15 shows the fused thalami. Image 16 shows the median cleft lip.


Images 17,18: Image 17 shows a 3D-image of the midline cleft lip. Image 18 shows a normal looking hand.


Images 19,20: Images of the face, note the anophthalmia on the right, single nostril, midline cleft lip and malformed right ear. Fetal cranium is markedly enlarged.


Images 21,22: Images show the normal looking left ear.


Images 23-25: X-ray images showing abnormal cranium but no other skeletal malformations,

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