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 2011-09-01-07 Case of the week #308 © Andreeva www.TheFetus.net 

Answer to the case of the week #308

December 08, 2011 - January 05, 2012


Elena Andreeva, MD; L. Zhuchenko, MD, N. Odegova, MD, F. Lagkueva, MD.  

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

 
 
Case report

 

A 33-year-old woman (G3P1) was referred to our department at 15 weeks of gestation. Her ultrasonographic examination revealed a fetus of crown-rump length (CRL) equal to 84 mm, with abnormal nuchal translucency (NT) thickness (NT 5.5 mm), and normal nasal bone (NB 2.8 mm). Micrognathia and camptodactyly were also noticed. Fetal extremities were kept in flexed position with lack of movements of the large joints.

Biochemical markers were also positive: PAPP-A 5.88 MoM, hCG 3.06 MoM.

 

Subsequent amniocentesis revealed normal karyotype (46XY).

Following ultrasonographic examination was done at 20 weeks and showed increased nuchal fold thickness, prenasal edema, jugular lymphatic obstruction, and polyhydramnios. 2D and 3D ultrasound also revealed some facial abnormalities like hypertelorism, downslanting palpebral fissures, micrognathia, long philtrum, and low set ears. The upper extremities were kept in flexed position with lack of movements of elbows and wrists. The lower extremities were also fixed and flexed, showing signs of edema and "rocker-bottom foot" like appearance of the feet. Multiple pterygia could be seen in elbows and knees.

Our presumed diagnosis was multiple pterygium syndrome. The parents opted for termination of the pregnancy and the diagnosis of lethal form of multiple pterygium syndrome was confirmed afterwards.

Images 1, 2: 14+4 weeks of pregnancy; Image 1 shows sagittal scan of the fetus with abnormal nuchal translucency thickness (NT 5.5 mm). Image 2 shows normal nasal bone of the fetus (NB 2.8 mm).

 

Video 1: 14+4 weeks of pregnancy; Video shows sagittal scan of the fetus with abnormal nuchal translucency thickness, normal nasal bone, flexed extremities with lack of large joint movements.



Images 3, 4: 19+5 weeks of pregnancy; Image 3 shows transverse scan of the fetal head with abnormal nuchal skin fold thickness (NF 6.64 mm).  Image 4 shows transverse scan of the fetal neck with hygroma colli cysticum.

 

Images 5, 6, 7, and 8: 19+5 weeks of pregnancy; Image 5 and 6 show fetal prenasal edema and micrognathia. Flexed elbow with pterygium is also visible at the image 5. Image 7 shows fetal face with hypertelorism. Image 8 shows 3D scan of the fetal face. Although a bit fuzzy image a long fetal philtrum can be seen. Upper extremities are kept in flexed position.

 

 

Images 9, 10: 19+5 weeks of pregnancy; Image 5 and 6 show fetal prenasal edema and micrognathia. Flexed elbow with pterygium is also visible at the image 5. Image 7 shows fetal face with hypertelorism. Image 8 shows 3D scan of the fetal face. Although a bit fuzzy image a long fetal philtrum can be seen. Upper extremities are kept in flexed position.

 

Images 11, 12: 19+5 weeks of pregnancy; Images show flexed elbow (Image 11) and knee (Image 12) with pterygia.
  
 

Video 2: 19+5 weeks of pregnancy; Video shows flexed fetal extremities with pterygia and restricted movements.



Images 13, 14, 15: 19+5 weeks of pregnancy; 3D images shows flexed fetal elbow with pterygium.

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Image 16: Pathological specimens of the fetus with multiple pterygium syndrome.

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