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Articles » Syndromes » Holt-Oram syndrome
2007-04-05-11 Holt-Oram syndrome. © Lemaire www.thefetus.net/

Holt-Oram syndrome 

P. Lemaire, MD*, Fabrice Cuillier, MD**; M. Deshayes, MD*, J.L. Alesandri, MD***.

*

Sonographer, Moufia"s street, 97400 Saint-Denis, Ile de la Réunion, France;

**

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

***

Department of Neonatology, Hôpital Félix Guyon, 97400 Saint-Denis, Ile de la Réunion, France.

 

Case report

This is 24th week scan of a woman with unremarkable history. She didn"t undergo triple test and first trimester ultrasonography during her pregnancy. Our investigation revealed:

  • Clinodactyly of the right hand with small thumb in abnormal position;

  • Severe ectrodactyly of the left hand (deep split hand with two rudimentary fingers);

  • Transposition of the great arteries and atrioventricular discordance wit atrioventricular defect;

  • Moderate polyhydramnios;

The amniocentesis revealed normal karyotype (46, XY) and a normal amniotic fluid alpha-fetoprotein level. The baby was delivered at 33 weeks (1900g) and the esophageal and anal atresias were discovered postnatally requiring surgical treatment. The heart and limbs anomalies were confirmed.

Images 1 and 2: 3D ultrasonography at 24th week of gestation showing the right hand of the baby with abnormal position of the thumb.

 

Images 3 and 4:  3D ultrasonography at 24th week of gestation showing the left forearm of the baby and split hand with two small fingers.

 

Images 5 and 6: 2D sonography; 24the week; four chamber view with atrioventricular septal defect.

 

Images 7 and 8: Postnatal appearance of the baby.

 

Image 9: Postnatal appearance of the baby - left hand.

 

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