[[Prompt::A 17 year old male achondroplastic dwarf is brought by his mother to the physician's office to inquire about his condition. The physician informs the patient that his condition is caused by an abnormal functioning of a growth factor receptor that affects his bone development. Which of the following abnormalities of osteogenesis most likely have occurred in this patient?]]
[[Explanation::Achondroplasia is a form of chondrodysplasia and is the most common cause of dwarfism. It is an autosomal dominant disorder that causesfailure of endochondral ossification with normal intramembranous ossification due to constitutive activation of fibroblast growth factor (FGF3) receptor. As such, patients tend to have normal heads (intramembranous ossification of the skull) with short limbs (failure of endochondral ossification of long bones of the extremities). I
FGF3 receptor is activated by intrinsic tyrosine kinase activity, similar to all other growth factor receptors and insulin receptors.
Educational Objective:
FGF3 receptor has an intrinsic tyrosine kinase signaling pathway. Constitutive activation of FGF3 receptor causes achondroplasia, an autosomal dominant disorder.
Reference:
Laederich MB, Horton WA. Achondroplasia: pathogenesis and implications for future treatment. Curr Opin in Pediatr. 2010;22(4):516-523. Educational Objective: References: ]]