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  2012-01-10-08 Case of the week #314 @Cuillier

Case of the week # 314

March 15, 2012- March 29, 2012

Fabrice Cuillier, MD*; D. Mardamootoo, midwife*; J. L. Alessandri, MD**; M. Balu, MD***.   

*  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.  

Case report

This 35-years-old patient and her 40-year-old husband have three healthy children. Unfortunately, this fourth pregnancy is not normal.

The thickness of nuchal translucency with CRL of 60 mm was 1 mm. The triple test was 1:1000. The fetus has anomalies of the extremities and abnormal facial profile.

At the end of 24th week, we found that:

Images 1, 2: A transversal plane of the skull, too round (Brachycephaly).


Image 3, 4, 5: An abnormally thick corpus callosum.

Image 6:
Abnormal facial profile, with a 90° fronto-nasal angle.

Image 7: 3D evaluation of the face was done.


Images 8, 9 Abnormal foot with syndactyly of the four fingers, big toes positioned at right angles 

Image 10, 11: 3D evaluation of the toes.

Image 12: Mitten hands, because of syndactyly of the five fingers.

Image 13 :Ears aspect seemed normal.

Image 14 : Gender is normal.  

Theses malformations suggested acro-cephalo-syndactyly, particularly the Apert syndrome.
Amniocentesis was done (46 XY).

The couple was consulted by a genetician, a pediatrician and a pediatric orthopedic surgeon, especially about orthopedic preparation. The orthopedic and neurological prognosis of Apert Syndrome was exposed.

The couple decided to end the pregnancy. The post-mortem examination confirmed our diagnosis (Image 15-18). A cleft palate was found (Image 18). 

Images 15-18:
Post-mortem appearance.



An autopsy was refused. A post-mortem X-ray and SS was performed (Image 19-24). The Apert syndrome diagnosis was confirmed by responsible mutation: p.Ser252Tp.

Images 19-24A post-mortem X-ray and SS



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