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2014-07-01-17 Case of the week #378 © Cuillier 

Case of the week #378

September 18, 2014 - October 02, 2014

Fabrice Cuillier, MD1; D. Mardamootoo2; Y. Rio, MD3; J. L. Alessandri, MD4.

1. Gynecology, Hôpital F. Guyon, 97400 Saint-Denis, Réunion, France;
2. Midwife, Hôpital F. Guyon, 97400 Saint-Denis, Réunion;
3. Private institute, Chaussee royale, 97434 Saint-Paul, Réunion, France; 
4. Neonatologist unit, Hôpital F. Guyon, 97400 Saint-Denis, Réunion, France.


Case report

A 28-year-old woman (G1P0 from Reunion Island) was referred to our clinic at 12 weeks of gestation. No consanguinity or other remarkable diseases in her anamnesis were noted. The patient was not exposed to any teratogenic substances or drugs.

Triple test was normal. Amniocentesis revealed normal karyotype (46, XX). The findings were suspected of lethal skeletal dysplasia and the parents opted for the termination of the pregnancy.

Post-abortion examination of the fetus confirmed prenatal findings. Radiogram of the fetus was also done and found some features supporting our final diagnosis. 
Patho-histological examination of the fetus found, among other findings, ectopic ossifications within the larynx. 

Our prenatal ultrasonographic examination revealed following findings:

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