The dot tested positive for the c.1084+3 G>A mutation on her FGFR2 gene. According to the report, this particular FGFR2 mutation has been described in patients with Pfeiffer's syndrome. At this point, I will give the beloved's advice to not Google image search Pfeiffer's syndrome lest one have nightmares about fish-shaped babies.
Interestingly enough, my father, through whom I inherited my mutation, was described as having Crouzon's syndrome, which is another syndrome associated with FGFR2 mutation. At this point things get technical.
By definition, a syndrome is a collection of symptoms. The five syndromes associated with FGFR2 mutations are the aforementioned Pfeiffer's and Crouzon's along with Apert's, Antley-Bixler and Jackson-Weiss. As my father was part of the first generation to have craniosynostosis surgery, there was no specific mutations associated with the syndrome yet, and the diagnosis was based solely on the symptoms. The same was true for the diagnosis given my brother and myself.
Today, there has been much more genetic research done on the mutations associated with those five syndromes, however there has not been enough to guarantee a causal association. The key phrase in the report is "has been described in."
Since there is a lack of several characteristics associated with Pfeiffer's (mostly malformations in the peripheral appendages) and a lack of severity, there is a chance that the description given will be Crouzon's.
At any rate, there will be surgery, probably in the not-too-distant future. Just because life with one baby and another inbound wasn't exciting enough.
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