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2003-05-20-14 Answer to case of the week # 99 © Cuillier

Answer to case of the week # 99

July 11 - July 24, 2003

Fabrice Cuillier, MD

The department of Obstetrics and Gynecology, Hôpital Félix Guyon, rue des Topazes, 97400 Saint-Denis, Reunion Island, France

A 37-year-old G5P2 (two miscarriage), Caucasian woman, was referred to our unit for evaluation of a frontal edema in her fetus. She and her husband, who were not consanguineous, were of Reunion island origin. They were healthy and the many members of the large family showed no particular abnormalities. The pregnancy has been uncomplicated and there was no significant medical of family history. The husband was fifty-five years old. The initial screening scan was performed at 13 weeks gestation and an increased nuchal translucency (3,1 mm) was obtained. But the patient refused investigation. At 22 weeks gestation, the ultrasound examination demonstrated:

  • A thick nuchal fold (7 mm) and the skin of the occipital region was thickened too (Figure N°1).
  • An pre-frontal edema (Figure N°2). The profile was flat with a small nose and thin lips but neither micrognathia nor clefting were noted.
  • A short femur (34 mm for a feet at 37 mm). The hands were described to be "square " (Figure N°3).




The couple was counseled concerning the options of invasive tests for karyotyping. Indeed on the basis of the unusual association between the aforementioned anomalies, karyotyping was offered to the patient who had previously refused an amniocentesis for pathologic translucency. So the parents accepted to perform an amniocentesis at 23 weeks gestation. The cytogenetic analysis was reported showing that 1/3 % of cells in two out of three cultures had a supernumerary, metacentric marker chromosome characteristic of an isochromosome 12p. The remaining cells had a normal male karyotype. In situ hybridization studies confirmed that the extra chromosome was derived from chromosome 12. Protein electrophorese was normal.  The parents were referred for genetic counseling and were advised that although a confined placental mosaicism was possible, the clinical findings in the fetus, were highly suggestive that the fetus was affected by Pallister Killian syndrome. On the basis of this, given the poor prognosis for Pallister Killian syndrome and after counseling, the couple elected to terminate the pregnancy at 29 weeks gestation. Labor was induced with prostaglandins at 29 weeks. The fetus was dead. The presence of the i(12p) was confirmed in cultures of fetal skin and the isochromosome was observed in cells derived from fibroblasts culture. These findings were all consistent with Pallister Killian syndrome. The parental karyotypes were subsequently checked and were both normal.

Fetal autopsy revealed a 1310 g female fetus. On external examination of the face, a long philtrum, up-slanting palpebral fissures and a broad nasal bridge were noted.

The weight and the measurement of the fetus were consistent with a gestational age of 29 weeks. There were also cutaneous edema on the neck and the trunk. The internal examination revealed normal interrelationship of the organs and no gross abnormalities. The shape and weights of the hearts, lungs, liver, spleen, pancreas, kidneys and adrenal glands were within the expected range of a 29-week fetus. The size, shape, gyral pattern and cross-sectional morphology of the brain were also consistent with that gestational age

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