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 2015-09-20  Case of the week # 406  © Cuillier F.
Answer to the case of the week # 406
October 22, 2015 - November 5, 2015

Dr Cuillier F., MD1, Dr Doray B.2, Dr Fernandez C.3. Dr Alessandri J.L.4.      


1. Department of Gynecology, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion, France. 

2. Department of Genetic, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion, France.  

3. Department of Anatomo-pathology, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion, France. 

4. Department of Neonatology, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion, France.  


Case report


A 21 year-old woman (G1P0) with unremarkable medical history was reffered to our institution due to upper limbs deficience.

Our ultrasound examination at 13 weeks of pregnancy revealed the following findings:

  • Normal nuchal translucency (TN 1mm - 60mm CRL)
  • Periabdominal soft tissue edema
  • Interventricular septal defect
  • Abnormal facial profile: micrognathia without visualization of the tongue and mandibular arch
  • Abnormal upper limbs: bilateral agenesis of hand and forearms, with soft tissue and bony stump. No anomalies were seen in lower limbs.
The patient opted for interruption of the pregnancy. Amniocentesis was done and karyotype was normal. Other genetic tests could not be performed.

She aborted a 14 weeks fetus and the external analysis confirmed the sonographic findings.

The pathological analysis revealed a complex cervical malformation with a large submandibular cavity communicated with the medullary cavity, trachea and esophagus, complete agenesis of the tongue, pharyx and larynx, interventricular septal defect with normal aorta and pulmonary artery. The autopsy also found a left diaphragmatic hernia and folded ears, not evident in prenatal examinations.


The diagnosis, based on ultrasound and genetic findings was Oro-Mandibular Limb Hypogenesis Syndrome (probable related with Gene PRRX1).

Images 1, 2, 3 and Video 1:
Mild periabdominal subcutaneous tissue edema. The stomach was normal in size and location without suspicious of diaphragmatic hernia.
Small interventricular septal defect seen in color doppler examination.


Images 4, 5: 3D images show severe retrognathia.


Images 6, 7, 8, 9, 10, 11:
2D and 3D imagenes show bilateral upper limb anomalies with agenesis of hands and forearms, with predominantly soft-tissue stumps with residual bony structures inside.


Images 12, 13:
3D images show normal lower limbs, and apparently normal ears on ultrasound at 13 weeks of pregnancy.


Images 14, 15, 16, 17, 18:
Pathological specimen showing  mandibular agenesis with severe micrognathia, large cavity which comunicates with the medullary canal, upper limb reduction defects, left diaphragmatic hernia and folded ears.



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