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Articles » Syndromes » Pallister-Killian syndrome
2010-02-17-12 Pallister-Killian syndrome © Cuillier

Pallister-Killian syndrome
Fabrice Cuillier, MD*; Alessandri J.L., MD.**, Cartault F., MD.*, Desayes M., MD.***


Service de Gynécologie-Obstétrique, Hôpital Félix Guyon, Saint-Denis de La Réunion, France.
Service de Cytogénétique, Hôpital Felix Guyon, Saint-Denis de la Réunion, France. 
Cabinet d'Echographie-Doppler, Sainte-Clotilde, La Reunion.

Case report

The following images show a case of Pallister-Killian syndrome, tetrasomy 12p, mosaic. Patient was healthy G2P1. First trimester ultrasound screening didn't show any abnormalities, NT=1 mm. During the ultrasound examination at 22 weeks, we have seen the following findings:

  • Prefrontal edema
  • Coarse facial features
  • Shortened extremities
Parents were councelled and decided for amniocentesis. It was performed at 31 weeks of gestation. The results showed mosaic of tetrasomy 12p but only in one cell clone. After consulting a cytogeneticist, we decided to repeat the amniocentesis to confirm our previous results. The results of the second amniocentesis confirmed tetrasomy 12p.
Patient delivered preterm, at 35 weeks of gestation. Postnatal findings confirmed the coarse facial features. There were no other abnormalities on the clinical examination.

Images 1,2,3: 3D images showing the coarse facial features


Images 4,5: Images show a nasal bone with normal measurement and prefrontal edema.


Images 6,7,8: 4-chamber-view of the fetal heart.


Images 9,10: Images of the left ear taken at 22 weeks, it measured within the normal range.


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