The Autosomal Dominant Bone Disorder Caused by a Mutation of Fibroblast

question 1

Multiple Choice

The autosomal dominant bone disorder caused by a mutation of fibroblast growth factor receptor 3 (FGFR3) is characterized by short stature, rhizomelic shortening of limbs, frontal bossing of the skull, and midface abnormalities. Which of the following disorders is described by these characteristics?

• A) Achondrogenesis
• B) Achondroplasia
• C) Multiple epiphyseal dysplasia
• D) Synpolydactyly
• E) Holt-Oram syndrome

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