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Articles » Syndromes » Pallister-Killian syndrome
2008-01-12-01 Pallister Killian syndrome, 23 weeks © Cuillier www.thefetus.net/
Pallister Killian syndrome, 23 weeks 

 

Fabrice Cuillier, MD*; M. Deshayes, MD**; M. Lemaire, MD**; J. F. Cartault, MD**; Alice Berta***.

*

Department of Gynecology, Felix Guyon Hospital, 97400 Saint-Denis, Reunion Island, France;

**

Sonographers, Moufia’s street, 9700 Saint-Denis, Reunion Island, France;

***

Student, Arizona State University. University Drive and Mill, Avenue Tempe, Arizona 85281.

 

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:

  • Anterior facial edema;
  • Flat fetal facial profile with a broad nasal root, short nose and anteverted nostrils;
  • Long philtrum with thin upper lip;
  • Chubby cheeks of the fetus could be seen on some of the 3D images;
  • Large ears with thick lobules;
  • Hypertelorism and slightly protruding eyeballs with different direction of the of the eye lenses, suggestive of the presence of the strabismus;
  • Enlargement of the cisterna magna cerebri;
  • Abnormal appearance of the hands and feet;
  • Mild hyperechogenicity of the fetal kidneys with preserved corticomedullary differentiation;
  • 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. 

 

Images 3, 4: 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. The image 4 shows a chubby appearance of the fetal cheeks.

 

Images 5, 6: 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. The eyeballs are slightly protruding out of the orbits.   

 

Image 7: The image shows a large ear of the fetus with thick lobule.

 

Images 8, 9: The image 8 shows an oblique coronal scan of the fetal eyes. Hypertelorism is evident and the different direction of the eye"s lenses is suggestive of fetal strabismus. The image 9 shows a fetal profile with the anterior fetal edema.

Images 10, 11: The images show the longitudinal (Image 10) and transverse (Image 11) images of the slightly hyperechoic fetal kidneys.

 

Images 12, 13: The images show abnormal appearance of the fetal hands.

 

Images 14, 15: The images show transverse scans of the feal head through the posterior fossa. Enlargement of the cisterna magna can be seen.

 

Images 16, 17: Hands of the baby.

 

Image 18: Post-abortive appearence of the baby"s face.

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