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Should I Be Concerned About Down Syndrome Inspite Of Having Prominent Epicanthal Folds Of My 9 Month Old Son?

Posted on Fri, 21 Mar 2014

Question: Hello, my son is 9 months old and he has very prominent epicanthal folds, I am concerned about down syndrome, he was high risk for it when I was pregnant but I had no further testing. He was 6 weeks premature and there has been no mention of possible down.syndrome. He is also very small, only in the 2nd percentile for length, I will happily send photo's if this will help. Thanks XXXXX

Answered by Dr. Anshul Varshney (37 minutes later)

Brief Answer: Send me Pic Detailed Answer: Dear Friend. Hi , I am Dr Anshul Varshney , I have read your query in detail , I understand your concern. I appreciate your awareness. I would be really able to guide you better , if you could send me his pic. Also , mention why he was at risk of down syndrime when you were pregnant. Stay Healthy. Dr Anshul Varshney , MD

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar

Follow up: Dr. Anshul Varshney (24 minutes later)

I have sent photo's to YYYY@YYYY If you need them.sent to another address, please send it me now I had the usual pre natal testing and was given a 1 in 60 chance of my son.having it due.to havong a high level.of a hormone Thanks

Answered by Dr. Anshul Varshney (5 minutes later)

Brief Answer: Mail on my name. You may attach here also. Detailed Answer: Dear Friend. Not a problem. Just re send you mail , mentioned on my name Dr Anshul Varshney. I would receive the mail though HCM portal. I would moreover like to know , do you have any history of Down syndrome in your family? Did you get your screening done in routine ir you had some specific concerns? Thanks.

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar

Follow up: Dr. Anshul Varshney (41 minutes later)

I have sent a question regarding my son's epicanthal folds and possible down syndrome. I have included some photo's as I was asked for I was high risk for down.syndrome when pregnant as part of the pre natal testing, I had a high level.of a particular hormone which resulted in a 1/60 chance.of him having it

Answered by Dr. Anshul Varshney (11 hours later)

Brief Answer: I can't appreciate him having down's with availab Detailed Answer: Dear Friend. First of all i must say that your baby is very cute. Now , if i give a look at face of your baby , i don't find the typical facies of down's syndrome in him. Yes , his epicanthal folds are prominent , but they are not diagnostic of down's syndrome. Have you noticed any other sign in him like : 1. Mental impairment 2. Abnormal teeth 3. Stunted growth 4. Slanted Eyes - i find them normal in pic 5. Umbilical hernia 6. Shortened hands - i find them normal in pic 7. Short neck - i find it normal in pic 8. Undescended testes. There are a lot other clinical features , that only an experienced person can appreciate. And you can't. If you find any of the above mentioned sign in your baby , you can go to a doctor , he/she will examine him , and if required will order an analysis of the child's chromosomes to confirm the diagnosis and determine if a translocation is present. I can just tell you here , that with the available photographs , i find him normal. Good Luck.

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Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar