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Suggest Treatment For Hole In Heart Of Infant, Small Head, Nose And Sacral Dimple
Question: My granddaughter was born last week at 6 1/2 lbs. She has a hole in her heart, small head, small labia and a sacral dimple and it seems she has a large nose for such a small person. Needless to say, we are all very worried and are awaiting ultrasound and other tests. Can you please tell us what we can expect to hear?
Thank you ...
Thank you ...
Brief Answer:
Genetic conditions need to be ruled out first
Detailed Answer:
Thanks for asking on HealthcareMagic.
I am sorry to know about the dismal and paradoxical situation that you now are in but I strongly would insist you not to panic. A genetic counselling might be essential for the parents. I would suggest you to talk to the doctor about undertaking a karyotyping or chromosomal study. I assume that an echocardiography has been done in order to detect the hole in heart. I would also insist you to share the report so that I could comment on the same. Alternatively, I would suggest you to get an echocardiography done in case the same has not yet been done. Many of the heart holes get closed on their own and so a follow up echocardiogram after 6 weeks or more would be essential. I would insist you not to panic. I would insist you to be patient and to wait for the chromosomal analysis report. Your apprehension about something bad might give you an expectation to hear something bad but the reports might not necessarily indicate something worth panicking about.
Regards
Genetic conditions need to be ruled out first
Detailed Answer:
Thanks for asking on HealthcareMagic.
I am sorry to know about the dismal and paradoxical situation that you now are in but I strongly would insist you not to panic. A genetic counselling might be essential for the parents. I would suggest you to talk to the doctor about undertaking a karyotyping or chromosomal study. I assume that an echocardiography has been done in order to detect the hole in heart. I would also insist you to share the report so that I could comment on the same. Alternatively, I would suggest you to get an echocardiography done in case the same has not yet been done. Many of the heart holes get closed on their own and so a follow up echocardiogram after 6 weeks or more would be essential. I would insist you not to panic. I would insist you to be patient and to wait for the chromosomal analysis report. Your apprehension about something bad might give you an expectation to hear something bad but the reports might not necessarily indicate something worth panicking about.
Regards
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Thank you for a quick reply.
You didn't explain the other symptoms I mentioned. These are the small head, small labia and sacral dimple. Are these symptoms related to the heart problem in any way?
Looking forward to your reply.
You didn't explain the other symptoms I mentioned. These are the small head, small labia and sacral dimple. Are these symptoms related to the heart problem in any way?
Looking forward to your reply.
Brief Answer:
There can be a genetic cause for the signs and symptoms
Detailed Answer:
Thanks for writing back.
A sacral dimple is sometimes the only external evidence of a tiny defect known as spina bifida occulta, a small congenital defect where part of one or more vertebrae have failed to develop completely. But even in such a condition she might be completely healthy otherwise. However, it needs to be ascertained whether there is any implication to the function of the nerves in the area.
A small head or microcephaly is not a very specific sign and could be present in a number of genetic conditions. That is the reason I suggested a genetic counselling and study. A sacral dimple when associated with such a condition, could be indicative for a number of conditions. The following link should help you in this regard:
http://symptoms.rightdiagnosis.com/cosymptoms/sacral-dimple/head-symptoms.htm
A number of associated signs could be present. I would not worry individually about small labia.
Regards
There can be a genetic cause for the signs and symptoms
Detailed Answer:
Thanks for writing back.
A sacral dimple is sometimes the only external evidence of a tiny defect known as spina bifida occulta, a small congenital defect where part of one or more vertebrae have failed to develop completely. But even in such a condition she might be completely healthy otherwise. However, it needs to be ascertained whether there is any implication to the function of the nerves in the area.
A small head or microcephaly is not a very specific sign and could be present in a number of genetic conditions. That is the reason I suggested a genetic counselling and study. A sacral dimple when associated with such a condition, could be indicative for a number of conditions. The following link should help you in this regard:
http://symptoms.rightdiagnosis.com/cosymptoms/sacral-dimple/head-symptoms.htm
A number of associated signs could be present. I would not worry individually about small labia.
Regards
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Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
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