Dr. M. Pradeep Kumar
Clinical Genetics
The following is an actual conversation between an iCliniq user and a doctor that has been reviewed and published as a Premium Q&A.
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Patient's Query
Hello doctor,
Do you have experience with FAS or FASD? Can prenatal exposure to alcohol cause a short columella? Is this common in those with the affected face?
Hi,
Welcome to icliniq.com.
We do see cases of fetal alcohol syndrome or fetal alcohol spectrum disorders. Alcohol is a known teratogen for the human fetus. Consumption of alcohol during pregnancy is associated with abnormalities in the fetus. The problems can occur in many systems, most importantly facial changes, heart abnormalities, kidney abnormalities, and neurological (structural or functional) abnormalities.
Three findings are common in facial abnormalities:
1. Smooth philtrum (a groove seen from the bottom of the nose to the upper lip will look flat).
2. Thin upper lip.
3. Narrow palpebral fissures of the eyes.
Short columella can be an associated feature, but that alone cannot be used to label the diagnosis as fetal alcohol syndrome.
Patient's Query
Hi doctor,
Thank you for the reply,
What is your opinion about this nose?
Hi,
Welcome back to icliniq.com.
Thank you for sharing those lovely pictures of the baby (attachment removed to protect patient identity). The nose looks broad, with a broad and blunt tip. However, there are no other classical features suggestive of fetal alcohol syndrome there. The baby looks quite alert and active. Unless associated major abnormalities in the heart, kidneys, or brain are present, I will not call this baby as having any feature of fetal alcohol syndrome.
Patient's Query
Hi doctor,
Thank you for the reply,
I know he does not have the sentinels features. But I also know that children with FASD can have no features. I have read that only 10% of children with FASD have facial abnormalities. I would like to know if his nose has the features of a nose you can see in children with FAS. What is your opinion about him? What is your opinion about his columella?
Hi,
Welcome back to icliniq.com.
The nose does not fit in with the diagnosis of FAS.
Patient's Query
Hi doctor,
Thank you for the reply,
What is your opinion about his columella?
Have you ever seen babies with similar columella?
Hi,
Welcome back to icliniq.com,
In general, the nose looks broad at the tip. It is little upturned, this is seen normally in many children. I do not see any abnormality related to the appearance of the nose or the columella .
I have seen such type of variations in many normal children. Also the baby in the picture looks normal, I could not notice any abnormality in the face.
Get reassured, just keep us posted if there are further queries.
Patient's Query
Hi doctor,
Thanks for your patience.
1. When I look his profile (side view) I cannot see his columella. I can see only the alar margin. It also seems to be bent, is this also normal?.
2. Is it possible to see this in the pictures? (I do not know if I sent good pictures).
3. Do you know how this variation usually evolves?
4. Does the columella become less short (compared to other structures of the nose)?
5. Does it become less retracted relative to the nose alar? Or do the proportions always remain the same?
I know that columella will not impair the functions of the nose. My question is about the shape of the nose itself.
Hi,
Welcome back to icliniq.com.
The columella is present in the baby and it is less prominent. It will grow proportionately. It will be difficult to predict the growth now. However in my opinion, as per the present state, it is unlikely that it will look different or abnormal later too. We can follow up on this every six months once. If still you are concerned about the same, we can get opinion from a plastic surgeon too.
Patient's Query
Hi doctor,
Thank you for the reply,
When you say it is unlikely it will look different, what do you mean? different from what it is today?
Hi,
Welcome back to icliniq.com.
Your concern is about the shape of the nose, and I wanted to reassure you.
Patient's Query
Hi doctor,
Thank you for the reply,
Yes, my concern is about the shape. Sorry for so many messages. I will try to explain why I am so anxious.I read a publication about the effects of prenatal alcohol exposure in JAMA called "Association Between Prenatal Alcohol Exposure and Craniofacial Shape of Children at 12 Months of Age." And this study shows that: "Results indicate a mild midfacial recession suggestive of subclinical hypoplasia and an upturning of the nasal tip in those exposed to alcohol prenatally. This phenotype was evident even when drinking was at a low level and mothers ceased alcohol consumption in the first trimester." " Our study has examined the association between low levels of PAE and a more rigorous assessment of both face shape and alcohol consumption. We show that certain aspects of the phenotype (upturning of the nasal tip and midfacial hypoplasia) can be detected even when the maximum number of standard drinks (10 g of AA) does not exceed seven per week and two per occasion. We did not observe the classic diagnostic features for FAS of a smooth philtrum, reduced palpebral fissure length, and thin vermillion of the upper lip; it is likely that these features emerge only at higher levels of exposure." I also read that facial features can occur only if the mother drinks during the period of gastrulation. And I probably drank three sips of wine once during this period (before I knew I was pregnant). And now my son has a variation exactly in the same structure that is mentioned in the article for light drinking.
So I am in doubt if this variation was caused by alcohol. I know he does not have the sentinels features, but this study refers to subtle features with light drinking.I know I have been boring you, and I am really sorry. I am not this kind of person, but I am trying to understand this.
Hi,
Welcome back to icliniq.com.
I can understand your anxiety. The findings in the study are just observations related to the phenotype of the subjects enrolled in the study. We cannot apply all these to subtle findings in the child. So do not worry.
Patient's Query
Hi doctor,
Thank you for the reply,
Do you think it is a horrible coincidence?
Hi,
Welcome back to icliniq.com
Yes, I strongly feel so.
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Clinical Genetics
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