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Posted on Thu, 10 Aug 2017 in Thyroid Problem and Hormonal Problems
Question: I went to a pediatrician regarding my 13mths stunted height - she was 85 percentile born and 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 which is fine but her dad is six foot six 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 and crawled at 5.5mths walked 10.5mths is social, has great receptive language and a vocabulary of 10 words. Her epicanthal folds are still visible and we do not have any Asian in our family
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Answered by Dr. Elona Xhardo 1 hour later
Brief Answer:
The karyotype is very important.

Detailed Answer:
Hello
I have gone through your question and understood your concern.

I want to say that you have no reason to worry about your daughter height at 13 months because it can be considered normal.(according to CDC Growth Charts)

About the epicanthal folds also called Plica palpebronasalis ,this is normal in people of Asian descent.
It is true that, it may also be due to certain medical conditions, including:
-Down syndrome
-Turner syndrome
-Fetal alcohol syndrome

But the diagnosis of these syndromes may be suspected when there are a number of typical physical features observed.
For example in XXXXXXX syndrome some typical physical features are webbed neck, a broad chest and widely spaced nipples. Sometimes there are even heart problems, an unusually wide neck or swelling of the hands and feet.

I can see in the photograph and according to your description,that the beautiful little girl has not these features(apart the epicanthal fold.)

In my opinion the diagnosis of XXXXXXX is not exact in your daughter's case,anyway i think that the karyotype must be done and this test will give all the information we need.

Hope this is helpful.
If you have other questions,feel free and ask.
Best regards.


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

Endocrinologist

Practicing since :2008

Answered : 814 Questions

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