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2016-08-06  Otocephaly - Agnathia - Holoprosencephaly - Acrania  © Fabrice Cuillier

Otocephaly - Agnathia - Holoprosencephaly - Acrania

Belec S. MD1, Valette A.C., Midewife1, Cuillier F.,MD2, Alessandri J.L. MD3, Doray B., Pr.4

1. Department of Gynecology, Hospital, 97600 Mamoudzou, Mayotte, France. 
2. Department of Gynecology, Felix-Guyon Hospital, 97400 Saint-Denis, Réunion, France. 
3. Department of Neonatology, Felix Guyon Hospital, 97400 Saint-Denis, Réunion, France.
4. Department of Genetic, Felix Guyon Hospital, 97400 Saint-Denis, Réunion, France.  


Otocephaly can be an isolated malformation or associated with others serious anomalies such as holoprosencephaly, neural tube defects, cardiopathy, renal ectopia, vertebral and ribs abnormalities. The syndrome complex of otocephaly is divided into four types:  

         -Isolated agnathia. 

         -Agnathia with holoprosencephaly. 

         -Agnathia with situs inversus and visceral anomalies

         -Agnathia, holoprosencephaly, situs inversus and other visceral anomalies. 

Otocephaly, agnathia with holoprosencephaly is a more complex, lethal anomaly characterized by hypoplasia or absence of the mandible with abnormally positioned ears and any form of holoprosencephaly. 

We described a case of prenatal diagnosis of otocephaly, agnathia with holoprosencephaly and acrania, using 2D and 3D sonography at 21 weeks.


Case report: 

A 28-year old (G3P2) woman living in Mayotte Island  was sent to our unit due to polyhydramnios diagnosed at 20 weeks of pregnancy.

Our first sonography at 21 weeks revealed the following findings:

Image 1: 2D sagital view of the fetal face showing abnormal profile with acrania and agnathia.

Image 2: 2D coronal image of the fetal face showing dysplastic ears in a very low and medial position.

Images 3-6: 3D rendering images show agnathia, extremely low-set ears adjacent to each other medially and proboscis.


Image 7:
3D rendering image shows right club hand, and normal left hand.

Our final diagnosis was otocephaly, agnathia with holoprosencephaly and acrania.

The patient was informed about these malformations. The parents opted for interruption of the pregnancy. The fetal karyotype was normal (46XY).

Images 8-11: post-mortem images confirmed the facial anomalies with agnathia, microstomia and abnormal ear insertion and cranial and brain anomalies.



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