The underlying mechanism is usually a problem with connective tissue due to a lack of type I collagen. This occurs in more than 90% of cases due to mutations in the COL1A1 or COL1A2 genes. These genetic problems are often inherited from a person's parents in an autosomal dominant manner or occur via a new mutation.
How is this the answer if there is no family history of recurrent fractures? I thought osteogenesis imperfecta was autosomal dominant?
seagullExactly!! it's an autosomal dominate disease! +2019-06-04T23:22:35Z
emceeAutosomal dominant diseases are variably expressive. Still, I think this was a badly written question (should have given us some family history).+2019-06-08T04:19:20Z
wutuwantbruvAlso, FA says that fractures may occur during the birthing process, which is what I believe they were going for. I don't believe these findings would be seen at birth with any of the other choices.+2019-06-22T22:29:10Z
d_hollesYeah I thought I outsmarted NBME by selecting Rickets bc it said no family history ... guess I got played lol. +32019-07-04T22:40:57Z
jean_young2019Could it be a sporadic cases? Spontaneous Mutation
This is a change in a gene that occurs without an obvious cause, in a family where there is no history of the particular gene mutation. OI is inherited as an autosomal dominant trait. Approximately 35% of cases have no family history and are called "sporadic" cases. In sporadic cases, OI is believed to result from a spontaneous new mutation.
http://www.oif.org/site/PageServer?pagename=Glossary+2019-09-04T18:06:47Z
to snoo-finity ... and beyond!
submitted by seagull(433), 2019-06-04T23:25:21Z
The underlying mechanism is usually a problem with connective tissue due to a lack of type I collagen. This occurs in more than 90% of cases due to mutations in the COL1A1 or COL1A2 genes. These genetic problems are often inherited from a person's parents in an autosomal dominant manner or occur via a new mutation.
-Wiki
Basically, good f***ing luck!