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2014-01-01-10 Case of the week #363 © Grochal www.TheFetus.net 

 
Answer to the case of the week #363

February 20, 2014 - March 06, 2014

Frantisek Grochal, MD*; Nadezda Misovicova, MD**; Jana Krsiakova, MD**.

Femicare, Center of prenatal ultrasonographic diagnostics, Martin, Slovak Republic. Catholic University in Ruzomberok, Faculty of Health Care, Ruzomberok, Slovak Republic;
** Genetic department, M-Genetik, s.r.o., P. Mudrona 504/7, 03601 Martin, Slovak Republic.
 

Case reports

Following two cases represent the same fetal anomaly:

Case 1

A 30-year-old woman (G2P1) with non-contributive history was sent to our office at 22nd week of gestation due to growth retardation of the fetus. Our examination revealed following findings:

- brachycephaly, macrocrania
- hypoplastic thorax;
- platyspondyly;
- micromelia with bowing of the femurs and humeri (telephone receiver shape);
- brachydactyly, trident hands;
- normal ossification of the fetal skeleton.

Diagnosis of thanatophoric dysplasia type I was postulated and confirmed by amniocentesis. The parents opted for continuation of the pregnancy. The newborn had been delivered in term by cesarean section and has died two days after delivery.

Images 1, 2, 3, 4: 22 weeks of gestation; the images show fetal head - relative macrocephaly and brachycephaly was present with normal ossification of the skull.

 


 

Images 5, 6, 7, 8: 22 weeks of gestation; the images show hypoplastic fetal thorax.

 


 

Images 9, 10: 22 weeks of gestation; the images show platyspondyly of lower thoracic and lumbar spine.

 

Images 11, 12, 13, 14: 22 weeks of gestation; micromelia - the images show short bowed femur, humerus and short tibia, ulna, and radius of the fetus.

 

 

Image 15: Fetal biometry at 22 weeks with prominent micromelia and macrocrania.



Image 16, 17, 18: 31 weeks of gestation; the images show facial profile with depressed nasal bridge and trident hands.

 


Image 19, 20, 21: 31 weeks of gestation; severe micromelia - the images show short bowed femur and humerus.

 


Images 22, 23: 31 weeks of gestation; 3D images showing platyspondyly of lower thoracic and lumbar spine.

 

Images 24, 25, 26, 27, 28, 29: 31 weeks of gestation; the images show 3D scans of the fetal face with depressed nasal bridge. The images 27-29 also shows trident hands of the fetus. Polyhydramnios was also present.

 

 

 


Image 30: Fetal biometry at 31 weeks with prominent micromelia and macrocrania.



Case 2

A 28-year-old woman (G1P0) with non-contributive history was sent to our office at 17th week of gestation due to growth retardation of the fetus. Our examination revealed following findings:

- brachycephaly, macrocrania, choroid plexus cysts;
- hypoplastic thorax;
- platyspondyly;
- micromelia with bowing of the femurs and humeri (telephone receiver shape);
- normal ossification of the fetal skeleton.

Diagnosis of thanatophoric dysplasia type I was postulated and confirmed by amniocentesis. The parents opted for the termination of the pregnancy.

Images 31, 32, 33, 34: 17
 weeks of gestation; the images show fetal head - relative macrocephaly and brachycephaly was present with normal ossification of the skull. Choroid plexus cysts were also present.

 

 

Images 35, 36: 17 weeks of gestation; the images show hypoplastic fetal thorax.

 

Images 37, 38, 39, 40, 41, 42: 17 weeks of gestation; the images show 2D and 3D scans of the fetal spine with platyspondyly of lower thoracic and lumbar spine.

 

 

 

Images 43, 44: 17 weeks of gestation; the images show short bowed femur, fibula, and tibia of the fetus.

 

Images 45, 46: 17 weeks of gestation; 3D images of the fetus with marked thoracic hypoplasia.

 



Image 47Fetal biometry at 16+1 weeks with prominent micromelia and macrocrania.



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