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2006-12-04-10 Answer to the case of the week 186 © Cuillier www.TheFetus.net


Answer to the case of the week #186

February 8February 22, 2007

Fabrice Cuillier, MD*; J. L.  Alessandri, MD**; Ramful Duk, MD**; J. M. Laville, MD***; D. Durandeu, MD****; J. P. Bourdil, MD*****; K. Comalli Dillon, BA, RDMS******.

*

Gynecologist, Hôpital Félix Guyon, 97400  Saint-Denis, Ile de la Réunion, France. Telephone: 0262 90 55 22; fax: 0262 90 77 30;

**

Neonatologist, Hôpital Félix Guyon, 97400 Saint-Denis, Ile de la Réunion, France;

***

Pediatric surgeon, Hôpital Felix Guyon, 97400 Saint-Denis, Ile de la Réunion, France;

****

143 Republic Avenue, Saint André, Ile de la Réunion, France;

*****

Obstetrician, Quartier du Chaudron, Saint-Denis, Ile de la Réunion, France;

******

Diagnostic Medical Sonographer, Editor, Translator, Novato, California.

 

Our patient is a 30-year-old G3P2. There is no known family or personal history of skeletal dysplasia. The patient has not been exposed to any teratogenic agents nor received any chemotherapy. However, being an island, Reunion Island has a large number of autosomal recessive disorders, due to gene concentration.

The initial prenatal clinical examination was normal.  At 13 weeks GA, the nuchal translucency was normal, as was the triple-marker screen.  Other scans were performed at 19, 22, 23, and 26 weeks GA.

Here are the pictures that we obtained and the definitive diagnosis was Larsen-Bourbon syndrome.

Images 1A, 1B: 
At 19 weeks GA, endovaginal 3D sonography of the feet with a "sandal gap", clubfeet and genu recurvatum.

 

Images 2A, 2B: 
At 22 weeks GA, abdominal 2D and 3D sonography of the feet showing clubfeet.

 

Images 2C, 3: 
2C - At 22 weeks GA, abdominal 2D sonography of the feet showing clubfoot.
3 - 2D abdominal sonography at 23 weeks GA showing right genu recurvatum.

 

Images 4A, 4B:
Sonographic comparison at 19 and 23 weeks GA with suspected elbow luxation. 

 

Images 4C, 4D: 
4C - 2D abdominal sonography at 23 weeks GA showing right genu recurvatum.
4D - At 22 weeks GA, abdominal 2D sonography of the feet showing clubfoot.

 

Images 4E, 4F: 
4E - At 22 weeks GA, abdominal 3D sonography of the feet showing clubfoot.
4F - 2D abdominal sonography at 23 weeks GA showing genu recurvatum.

 

Image 5A, 5B:
3D profile visualisation of the hand, which seems small at 19 weeks GA.

 

Images 5C, 5D:
5C - At 23 weeks GA, abdominal 3D sonography of the foot showing clubfoot and genu recurvatum.
5D - At 23 weeks GA, vaginal 2D sonography of the feet showing clubfeet and genu recurvatum.

 

Images 5E, 5F:
5E - At 23 weeks GA, vaginal 3D sonography of the feet showing clubfoot.
5F - At 23 weeks GA, vaginal 2D sonography of the feet showing clubfoot and genu recurvatum.

 

Images 6, 7A:
6 - sagittal view of the head of the fetus at 26 weeks GA.
7A - 2D view with the genu recurvatum of the fetus at 26 weeks GA.

 

Images 7B, 7C:
7B
- 3D view of the leg with genu recurvatum at 26 weeks GA.
7C - 3D view of the clubfoot at 26 weeks GA.

 

Images 7D, 8:
7D
- 3D view of the upper extremity with elbow luxation at 26 weeks GA .
8 - 2D sagittal view of the head of the fetus showing frontal bossing at 26 weeks GA.

 

Images 9A, 9B:
At 27 weeks GA, spiral CT scan showing articular anomalies.

 

Images 10A, 10B, 10C, 10D:
Postnatal appearance of the neonate.

 

 

Image 11:
Postnatal radiography showing the genua recurvata.

 

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