thanatophoric dwarfism is a lethal form of dwarfism where the babe dies minutes after birth.
I just went to see my OB and I have to go tuesday to the high risk fetal dev. clinic in London ON for a detailed US. My GP that I saw monday only told me that the report said "highly suspicious of thanatophoric dwarfism". My OB today read it to me and here is what it says:
~head circ. normal
~abdominal circ. normal
~nose and lips normal
~no frontal bossing
~femoral length 1.5 cm (4 weeks behind) also states that these are +/- 2 weeks
~humerus 1.5 cm (3 weeks behind) also states that these are +/- 2 weeks
~appears to be bell shaped thorax
my OB also said that the clinic I had the US done at has been known to make mistakes in the past (we went there only beacuse it's the only clinic that will tell you the sex and we didn't know about the reputation). She also said that after they do the report they throw away all pics which is so not right. She basically said to relax, that it could be errenous. My husband is 5'10 (but has short legs) so my OB said he might just have short legs.
I really need to know a few things...is it possible that baby is just short, and that 4 weeks behind bones will catch up? Do you know how far growth needs to be behind for them to say without a doubt that there's a problem? do you think that maybe his short ribs may not indicate a real problem? Im just trying to figure out the chances that maybe things will be okay...My OB said to still have hope that my babe may still be okay...so scared for my little man and I know I can't do much but wait.
I'm sorry for the late reply. A follow-up ultrasound at a reputable institution is the best way to determine the risk of skeletal dysplasia (the general class of skeletal problems that includes thanatophoric dwarfism). You may have already had this done by now.
Based on a repeat ultrasound and possibly further ultrasounds, your Obstetrician can help determine what further evaluations should be performed. If the risk for thanatophoric dwarfism is confirmed, you might ask for a consultation with a Neonatologist to discuss what can happen at the time of birth, and to discuss care options including the possibility of palliative care.
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