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Department of Gynecology, Felix Guyon Hospital, 97400 Saint-Denis, Reunion Island, France;
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Sonographers, Moufia’s street, 9700 Saint-Denis, Reunion Island, France;
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***
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Student, Arizona State University. University Drive and Mill, Avenue Tempe, Arizona 85281.
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Case report
A 25-year-old (G1P0) was referred to our unit at 23 weeks for an ultrasonographic evaluation of a frontal facial edema of the fetus with abnormal appearance of the fetal face. The course of the pregnancy was uneventful and the initial ultrasound screening at 13 weeks was normal with normal value of the nuchal translucency (1 mm).
At 23 weeks of gestation we could see the following findings:
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Anterior facial edema;
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Flat fetal facial profile with a broad nasal root, short nose and anteverted nostrils;
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Long philtrum with thin upper lip;
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Chubby cheeks of the fetus could be seen on some of the 3D images;
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Large ears with thick lobules;
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Hypertelorism and slightly protruding eyeballs with different direction of the of the eye lenses, suggestive of the presence of the strabismus;
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Enlargement of the cisterna magna cerebri;
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Abnormal appearance of the hands and feet;
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Mild hyperechogenicity of the fetal kidneys with preserved corticomedullary differentiation;
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Polyhydramnios.
An amniocentesis was done at 25 weeks and showed a mosaic karyotype 47,XX+i(12)(p10)/46,XX in the amniotic fluid cells characteristic of the Pallister-Killian syndrome.
The parents opted for the termination of the pregnancy at 28 weeks (female, 1200g). The external fetal features were consistent with the prenatal findings. Pathological study didn’t find any internal abnormalities.
Images 1, 2: The images show 3D appearance of the flat fetal face with a broad nasal root, short nose, anteverted nostrils, and long philtrum with thin upper lip.