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2017-03-12  Case of the week # 441  © Fabrice Cuillier

Answer of the case of the week # 442
March 30, 2017 - April 13, 2017.

Fabrice Cuillier, MD.*, Alessandri J.L., M.D.*, Balu M.***, Pr Doray B.****.    

* Department of Gynecology, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion, France. 
** Department of Neonatology, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion. 
*** Department of radiology, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion. 
**** Department of Cytogenetic, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion. 
Case report 

A 28-year old woman (G2P1) was sent to our unit for polyhydramnios and uterine contractions at 22 weeks.

Her first baby presented with a cleft lip and palate, oligodactyly, diaphgmatic hernia, and died shortly after birth.
In this second pregnancy, the first trimester screening scan and the triple test were not performed. 

Our ultrasound examination at 33 weeks, revealed the folowing findings:
  • Abnormal face.
  • Polyhydramnos.
  • Abnormal ears. 
  • Short and thin corpus callosum, with normal pericallosal artery.  
  • Cystic dilatation of the fourth ventricle. Vermis was normal. 
  • Abnormal shortened fingers.
  • Normal feet. 
  • A probable cleft palate, without cleft lip.  
  • Ventricular septal defect with normal atrio-ventricular and ventriculo-arterial concordance.
  • Little stomach with polyhydramnios. Oesophageal atresia was suspected.  
  • Female external genitalia.
An amniocentesis was done and the karyotype was normal (46 XX). MRI was performed and revealed moderate vermis hypoplasia and short and thin corpus callosum.  
The patient delivered spontaneously at 33 weeks and three days. Immediate intubation was necessary.
All anomalies were confirmed. The neonatologist did not discover cataract, but confirmed bilateral ears dysplasia. Oesophageal atresia also was confirmed. 

The patient was informed about the suspected diagnosis, and she decided to stop reanimation of the baby.
The baby died at day 10. 

The consensus diagnosis with the geneticist was Fryns syndrome without diaphragmatic hernia.

Despite the Array-based comparative genomic hybridization (Array CGH) study was normal, the specific molecular research was done (CHU Dijon, France) and homozygote PIGN gene mutation was found. 
These mutations of the PIGN gene have been identified and found on different fetus with Fryns syndrome, which is an autosomic recessive disease lethal in the neonatal period with a recurrence risk of 25%. 

We assumed that the first baby died after birth because of the same disease.

HERE Dr. Javier Cortejoso´s great answer!!!!!

Images 1 and 2, video 1: 3D images of the fetal face showing mild dismorphism and abnormal profile.


Images 3, 4, 5, 6, 7, and 8: 2D and 3D images showing abnormal dysplastic ears.


Images 9, 10 and 11, video 2: 2D profile view showing a thin and short corpus callosum. 2D transversal view of the cerebellum and the vermis shows cystic dilation of the fourth ventricle without hypoplasia of vermis. Normal cerebellum.


Images 12, 13, 14, 15, 16 and 17: 
3D sonography analysis of the two hands showing short fingers.


Image 18:
2D image of the normal feet. 

Images 19 and 20, video 3 and 4: 
Ventricular septal defect was present with normal atrio-ventricular and ventriculo-arterial concordance.


Images 21 and 22: Cleft palate was suspected.

Image 23: 2D image shows small stomach with polyhydramnios. 

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