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 19-24: A post-mortem X-ray and SS