5 Questions
Which genetic alteration affects transcription factors and is associated with developmental anomalies due to localized disorder of migration/condensation of mesenchymal cells?
Dysostosis
Which condition is characterized by the absence of brain and a contiguous bony defect of the spine, leading to a high rate of death?
Craniorachischisis
Which genetic alteration is associated with a disease characterized by no cartilage formation during appositional growth or endochondral ossification?
Achondroplasia
Which condition is characterized by the fusion of digits?
Syndactyly
Which genetic alteration is associated with an unknown etiology and leads to a stay in chondrocyte form during cartilage formation?
Achondroplasia
Test your knowledge on malformation and disease caused by defects in nuclear proteins and transcription factors. Explore the etiology, pathophysiology, and clinical manifestations of dysostosis, including syndactyly, supernumerary digits, and craniorachischisis. Uncover the genetic alterations that affect transcription factors like homeobox genes (HOXD-13).
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