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Exactly!! it's an autosomal dominate disease!
Autosomal dominant diseases are variably expressive. Still, I think this was a badly written question (should have given us some family history).
Also, 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.
Yeah I thought I outsmarted NBME by selecting Rickets bc it said no family history ... guess I got played lol.
Could 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.
Amboss says the severe subtypes (types II, III) of OI are usually due to a new (sporadic) mutation in COL1A1 or COL1A2, while patients with the mild forms (types I, IV) typically have a parent with the condition.