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2007-05-16-14 Diaphragmatic hernia, absence of fibula and apodia, possible Cornelia de Lange syndrome © Cuillier www.thefetus.net/
Diaphragmatic hernia, absence of fibula and apodia, possible Cornelia de Lange syndrome

Fabrice Cuillier, MD*; J. Chouchani MD**; J. L. Alessandri, MD***.

*   Department of Gynecology, Félix Guyon"Hospital, 97400 Saint-Denis, Ile de la Réunion, France;
**  Department of Gynecology, Hospital, 97400 Mamoudzou, Ile de la Réunion, France;
*** Department of Neonatology, Félix Guyon"Hospital, 97400, Saint-Denis, Ile de la Réunion, France.

Case report

A 17-year-old G1P0, referred to our antenatal unit at 34 weeks of pregnancy due to left diaphragmatic hernia of the fetus. Her family history was unremarkable. She didn"t present for the first and second ultrasound screening, as well as for triple biochemical test. Our ultrasound examination at 35th week discovered following findings:

  • Anhydramnios and intrauterine growth restriction (estimated fetal weight 1700 g), but with normal resistance parameters at the level of umbilical arteries;

  • Dextroposition of the heart due to the left diaphragmatic hernia, with left intrathoracic displacement of the stomach, colon and spleen;

  • The left inferior limb seemed abnormal, but in anhydramniotic environment it was difficult to do more precise diagnosis.

A spiral CT scan was done and a hypoplastic femur, a missing fibula and apodia of the left leg were confirmed. The amniocentesis revealed normal karyotype (46, XX).

By searching of OMIM Internet database, and by putting "diaphragmatic hernia, lower limb anomalies" as the searching criteria, we presumed Cornelia de Lange syndrome as a possible diagnosis. Unfortunately the patient was lost from our further medical care and investigations because she moved to another place.

Images 1, 2: 34 weeks of pregnancy. Transverse scan through the thorax showing dextroposition of the heart with intraabdominal organs protruding into the thoracic cavity (H - heart, S - stomach).

 

Images 3, 4: 34 weeks of pregnancy. Transverse scan through the thorax showing dextroposition of the heart with intraabdominal organs protruding into the thoracic cavity (H - heart, S - stomach).

 

Video 1: 34 weeks of pregnancy. Transverse scan through the thorax showing dextroposition of the heart with intraabdominal organs protruding into the thoracic cavity.

Images 5, 6: 35 weeks of pregnancy. Spiral CT scans showing missed fibula and apodia of the left leg.

 

Images 7: 35 weeks of pregnancy. Spiral CT scan showing missed fibula and apodia of the left leg.

 

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