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2014-12-22-10 Case of the week #385 © Grochal www.TheFetus.net 

Answer to the case of the week #385

January 01, 2015 - January 15, 2015

Frantisek Grochal, MD1; Martin Mistrik, MD2; Viera Andilova, MD3.

1. Femicare, Center of prenatal ultrasonographic diagnostics, Martin, Slovak Republic. Catholic University in Ruzomberok, Faculty of Health Care, Ruzomberok, Slovak Republic;
2. Ambulancia lekárskej genetiky, Jánskeho 1, 05201 Spišská Nová Ves , Slovak Republic;
3. Belamedik s.r.o., Štefánikova 455/42, 05901 Spišská Belá, Slovak Republic.

 

Case report

An 18-year-old woman (G2P1) was sent to our office at 19 weeks and 5 days of gestation due to abnormal fetal biometry. Our examination revealed following findings:

Head

Mild macrocephaly, flat fetal profile, short nasal bones with mild prenasal edema, long philtrum, hypertelorism, wide, down-slanting palpebral fissures, short, upturned nose, anteverted nares, macrostomia  with downturned mouth corners, triangular mouth. 

Extremities

Short long bones with dominant mesomelia (upper extremities are more affected than lower extremities); clinodactyly.

Spine, ribs

Fused vertebrae, butterfly vertebrae, hemivertebrae in thoraco-lumbar region of the spine; fused ribs.

Genitalias

Abnormally looking genitalis with micropenis was noted. 

The findings were consistent with the diagnosis of mesomelic dysplasia - Robinow syndrome. Amniocentesis was recommended and following analysis of the ROR2 gene revealed homozygous mutation p.Arg119Ter (c.355C>T) of the fetus confirming the diagnosis of the mesomelic dysplasia - Robinow syndrome.

Subsequent examination of the parents revealed heterozygous mutation p.Arg119Ter (c.355C>T) in both of them.

Images 1, 2, 3: 19 weeks and 5 days of gestation; 2D images showing flat fetal profile, short nasal bones with mild prenasal edema, long philtrum, and short nose of the fetus.


 


Images 4, 5, 6, 7, 8, and 9: 19 weeks and 5 days of gestation; 3D images and drawings (images 5 and 7) showing fetal face with long philtrum, hypertelorism, wide, down-slanting palpebral fissures, short, upturned nose, anteverted nares, macrostomia  with downturned mouth corners, and triangular mouth (drawings demonstrate typical facial findings of the Robinow syndrome). 

 

 

 

Image 10: 19 weeks and 5 days of gestation; 3D image showing normal fetal ear (in some cases of the Robinow syndrome the ears are posteriorly rotated and low set).



Images 11, 12: 19 weeks and 5 days of gestation; 2D images showing transverse scan of the fetal head - biometry of the head shows moderate macrocephaly. Mild nuchal edema was also present (Nuchal Fold - NF 5.97 mm) - image 12.

 

Images 13, 14: 19 weeks and 5 days of gestation; 2D images showing transverse biorbital scan of the fetal head with hypertelorism.

 


Images 15, 16, 17, 18: 19 weeks and 5 days of gestation; 2D images showing appearance and biometry of the femur (image 15), tibia (image 16), humerus (image 17), and ulna (image 18). Mesomelia particularly pronounced in the upper limbs can be noticed.


 

 

Image 19: Biometry of the fetus demonstrating fetal macrocephaly and short long bones with dominant mesomelia particularly pronounced in the upper limbs.



Images 20, 21, 22, 23: 19 weeks and 5 days of gestation; 2D images showing sagittal and transverse scans of the fetal thorax and abdomen. Mildly smaller size of the thorax and shorter ribs can be noticed.

 


 

Video 1: 19 weeks and 5 days of gestation; the video demonstrates normal cardiac morphology.

Images 24, 25, 26: 19 weeks and 5 days of gestation; 2D images showing sagittal and coronal scans of the thoracolumbar region of the spine with fused vertebrae, hemivertebrae and butterfly vertebrae.

 


Images 27, 28, 29, 30: 19 weeks and 5 days of gestation; 3D images showing fetal spine and ribs with fused ribs (arrows) and hemivertebrae in thoraco-lumbar region of the spine.

 

 

Images 31, 32: 19 weeks and 5 days of gestation; the image 31 shows fetal hand with clinodactyly; the image 32 shows abnormal fetal gender / male genitalia with micropenis.

 


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