Achondroplasia

Description

Professor Dan Perry gives his expert insights into genetics and associated physical signs. Professor Perry starts by emphasizing the importance of analyzing all possible answers to a question. He specifically highlights the FGFR3 gene and its connection to achondroplasia, which is characterized by features such as trident hands. He also references Gower's sign, which indicates proximal muscle weakness associated with Duchenne's muscular dystrophy, and notes that absent clavicles signify a type of dysplasia. The mention of 'cauliflower' appears to refer to a deformity often seen in boxers, illustrating a point about intellectual disabilities, indicating a broader context regarding genetic conditions.




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DOI: 10.1302/3114-251162

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