Resolved question:
My mothers first child, a boy, died at 2 weeks of age. He died of aspiration pneumonia. He had multiple birth defects: syndactilly of the middle two fingers on both hands , low tone, clubbed feet, difficulty nursing.
I did not know this. My second and last daughter Cori was born with almost identical characteristics. Low tone at birth, syndactilly, clubbed feet, Dysphagia. I was told her chromosomes were normal and that she has congenital encephalopathy. She is 23 years old with severe mr and a feeding tube.
So, am I to believe that my oldest daughter who is perfectly normal should not have children due to her risk of this happening to her? She is 24 snd will be getting married in 6 months.
Any information and input would be greatly appreciated.
Submitted:
4 Days
Category:
Pediatrician
Dear friend, thankyou for approaching DoctorSpring.com
I understand your concerns. The clinical scenario described by you is typical of an inherited, familial disease. The points to be noted are that:
1. It is affecting almost every generation
2. It is affecting both males and females
3. It has a recessive component ( as this abnormal gene/ defect was present in you, got transmitted to your daughter without it producing any physical manifestation in you)
The symptom combination of syndactyly, hypotonia and difficult nursing is too non-specific to make a definitive genetic diagnosis in this case. Though it can be a clue to few micro deletion syndromes.
If that is the case, I would require a few more details:
1. Does your husband belong to the same bloodline; in other words, is your marriage consanguineous?
2. Any analysis of an inherited disorder is based on the FAMILY TREE (pictorial depiction of at least three generations of your family, including your husband's side).
You would need to consult a GENETICIST in person with all the relevant details to get some help. This would answer your questions regarding the risk of your daughter having an affected child. By ordering genetic testing in all three of you (your daughters and yourself), we would be able to pin point with a reasonable amount of certainty regarding the underlying aetiology as well as the pattern of transmission.
Regards
Dr. Saptharishi L G