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2010-10-22-11 Answer to the case of the week #290 © Andreeva

Answer to the case of the week #290

March 31, 2011 - April 14, 2011.

Elena Andreeva, MD., Ludmila Juchenko, MD.

Moscow regions Research Institute of Obstetrics and Gynecology, Medical-Genetics Department, Moscow, Russia.


Case report

This is a case of a 25-year-old G1 P0 with non-contributive personal or family history. She came to our department for the ultrasound scan at 38 weeks of gestation.

We detected the following findings during our ultrasound examination:

  • Abnormal facial profile  - micrognathia, dysmorphic facial features
  • Increased amount of the amniotic fluid (AFI - 38 cm)
  • Single umbilical artery
  • Growth restriction

The dysmorphic facial features included downslanting palpebral fissures, micrognathia, underdeveloped zygoma,
drooping part of the lateral lower eyelids malformed ears. 3D-images helped with detecting the abnormal facial features.

At 40 weeks of gestation the patient's membranes ruptured, at home. There was an umbilical cord prolapse which caused intrauterine fetal death. The weight of the baby was 2030 grams and it measured 46 cm. The karyotype was normal, 46 XY. The diagnosis of Treacher Collins syndrome was confirmed after delivery.

Images 1,2: 38 weeks, profile of the baby with micrognathia.

Images 3,4: Image 3 shows a small mouth. Image 4 shows a 3-D image of the fetal face, note small mouth, drooping part of the lateral lower eyelids.

Images 5,6
: 3-D images of the face with micrognathia and small mouth.

Images 7: Single umbilical artery.

Images 8,9: Image of the neonate after delivery. Facial features correspond with the ultrasound findings. Note malformed ears, downslanting palpebral fissures, underdeveloped zygoma, small mouth and micrognathia.

Videos 1,2: Video 1 shows small fetal mouth. Video 2 shows profile with micrognathia.

Video 3: Malformed ear.

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