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NBME 23 Answers

nbme23/Block 2/Question#5

A female newborn develops respiratory distress. Her ...

Osteogenesis imperfecta, type I

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submitted by seagull(387),

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.

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Basically, good f***ing luck!





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submitted by lispectedwumbologist(23),

How is this the answer if there is no family history of recurrent fractures? I thought osteogenesis imperfecta was autosomal dominant?

seagull  Exactly!! it's an autosomal dominate disease! +  
emcee  Autosomal dominant diseases are variably expressive. Still, I think this was a badly written question (should have given us some family history). +  
wutuwantbruv  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. +  
d_holles  Yeah I thought I outsmarted NBME by selecting Rickets bc it said no family history ... guess I got played lol. +3  
jean_young2019  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. http://www.oif.org/site/PageServer?pagename=Glossary +