Achondroplasia

Description

In this instructional video, the speaker, Professor Dan Perry, guides viewers through the process of answering a question related to genetics and associated physical signs. The discussion starts by emphasizing the importance of analyzing all possible answers to a question. The speaker specifically highlights the FGFR3 gene and its connection to achondroplasia, which is characterized by features such as trident hands. The speaker 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.

Specialties