What Does My Blood Test Report Indicate?

Posted on Thu, 10 Aug 2017

Question: I went to a pediatrician regarding my 13mths stunted height - she was 85 percentile born and remained that all the way up until her 12mth check up where she had dropped to 20 percentile. At her 13mth she is back to 50 percentile 76cm which is fine but her dad is 6.6" and i'm 5.9".
He made mention that her eye area seemed immature and she didn't look 13mths. He then mentioned the blood test for hormone checks and XXXXXXX syndrome. This scares me. She is normal in every way just a little short, She crawled at 5.5mths, walked 10.5mths is social, has great receptive language and a vocabulary of over 10 words. Her epicanthal folds are still visible and we do not have any Asian in our family. Is it normal for the folds to still be visible as she has a flat bridge still or should I be concerned as this is another symptom of Turner? We had blood test yesterday but it can be a month before we get the results and even then he said that it might not show up

Answered by Dr. Mirjeta Guni (42 minutes later)

Brief Answer:
About epicantic fold:

Detailed Answer:
Hello and thank you for asking!
I have gone carefully through your concern about your daughter's health.
50th percentile is considered a normal height for a 1 year old girl. You didn' t mention the weight and head circumference but the height is normal.
Epicantic fold is lost usually within 3-6 months after birth.
Persisting at this age may need further investigations but the whole clinical examination should be taken into consideration.
Probably your pediatrician has found it worthy to do the karyotype, after the whole control, so we should wait for the result.
Of course, Down's syndrome is excluded as she would have other charachteristics ( infant is quickly recognized by both facial and more general cranial characteristics, including a rounded head, short neck, thin and usually fine hair, flat nose, small mouth, ect) so excluding XXXXXXX would be the next step.
Wish her good health.
Kind regards,
Dr.Mirjeta

Above answer was peer-reviewed by : Dr. Remy Koshy

Follow up: Dr. Mirjeta Guni (38 minutes later)

Thanks.
Both head circumference and weight is 50th percentile, so he said that she is in proportion. I'm trying to find out if she looks like she has XXXXXXX syndrome from the photos as a month is a long time to wait and all he said was she looked younger across the eyes?

Answered by Dr. Mirjeta Guni (3 hours later)

Brief Answer:
About epicantic fold:

Detailed Answer:
Welcome back,
From the pics, she is just a cute little girl.
This is not the characteristic face neither of Down syndrome, nor of XXXXXXX
So, nothing to get worried about. Anyway, you have done the chromosomal test, the result will confirm it.
Best wishes,
Dr.Mirjeta

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Above answer was peer-reviewed by : Dr. Remy Koshy