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Dr. Andrew Rynne

Family Physician

Exp 50 years

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Are short limb measurements on a fetal ultrasound report indicative of dwarfism?

Answered by
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Dr. Diptanshu Das

Pediatrician

Practicing since :2005

Answered : 3616 Questions

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Posted on Fri, 11 May 2018 in Genetics
Question: All of my ultra sounds came back with everything normal (had 4). I had a bladder infection around 30 weeks and they did an ultrasound that indicated the Femur length was in the 3rd percentile. Was referred to a specialist and they did all measurements with an ultra sound at around 34 weeks. Now the Femur is measuring in the 6th percentile but they did additional measurements with the specialist and the Radius is in 0 percentile. Doctor says that DS and dwarfism are very low risk (I think because of head size/shape and chest shape so much information to keep track of) but am still doing the harmony blood test to rule that out. Genetics Specialist recommended an amnio but was unable to do it as it wasn't safe with baby position. What does the two short long bone measurements mean? What additional risk is there with the 0 percentile radius length? Is there anything that I can do? There was no mention of any other indicators of an issue. I did randomly ask if all fingers and toes were there and they said yes. My next appointment isn't for almost two weeks and the stress over this month is unbearable. Will be having another ultrasound and a fetal echo.
doctor
Answered by Dr. Diptanshu Das 1 hour later
Brief Answer:
Further inputs needed. Please upload the report.

Detailed Answer:
Thanks for asking on HealthcareMagic.

I have gone carefully through your query and understand your concerns. I would insist you to upload the report. It will help me to correlate. As such, such findings could point to the probability of dwarfism or achondroplasia. However, the doctor says that dwarfism is unlikely. I would therefore need more details to correlate. Furthermore, the zero percentile does not make sense to me.

I would await your response. Based on that I will guide you further.

Let me know if I could help further.

Regards
Above answer was peer-reviewed by : Dr. Nagamani Ng
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Follow up: Dr. Diptanshu Das 17 hours later
Hi, I have provided some attachments. Please review them.
doctor
Answered by Dr. Diptanshu Das 3 hours later
Brief Answer:
Genetic problems likely

Detailed Answer:
Thanks for uploading the report. It was essential for correlation. I have carefully gone through it. The short limbs point to the possibility of certain genetic syndromes like thrombocytopenia absent radius (TAR) or Holt Oram syndrome. Aneuploidy is not the only genetic risk one may have but the risk of aneuploidy was detected to be low during the first trimester screening (FTS).

You need to talk to the geneticist at the center where the ultrasound was done. Furthermore, a fetal echocardiography is also essential.

Regards
Above answer was peer-reviewed by : Dr. Yogesh D
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Follow up: Dr. Diptanshu Das 1 hour later
Is this a high risk given the results?
doctor
Answered by Dr. Diptanshu Das 1 minute later
Brief Answer:
It is certain

Detailed Answer:
That the limbs are shorter is certain (not merely high risk). The cause has to be identified. The associations (like heart disease) need to be identified.

Regards
Above answer was peer-reviewed by : Dr. Kampana
doctor
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Follow up: Dr. Diptanshu Das 23 hours later
So you are saying that she will have some type of abnormality just not sure how severe? It isn’t possible with these results that she would grow after birth and be normal?
doctor
Answered by Dr. Diptanshu Das 1 hour later
Brief Answer:
Discuss with the geneticist concerned

Detailed Answer:
Unfortunately, it is definite that the limbs are short and that the proportion will not normalize as the child grows. It is just that we do not yet know the genetic significance and the associations involved.

Once again I would insist you to discuss with the geneticist concerned.

Regards
Above answer was peer-reviewed by : Dr. Nagamani Ng
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