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A child with a defect in the DTDST gene would have which of the following classic phenotypes?
Blue sclera and bowing deformities
Mental retardation and cardiac malformations
Cauliflower ears and hitchhiker's thumb
Craniosynostosis and complex syndactyly
Rhizomelic dwarfism and frontal bossing
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Figure A is a photograph of a newborn's hand. Genetic testing reveals a mutation in the SLC26A2 gene on Chromosome 5q and both the parents were carriers. What condition does this child have?
What is the genetic cause of the dwarfism characterized by a hitchhikers thumb, cauliflower swelling of the ears, and severe clubfeet?
Sulfate transport protein
Gs Alpha Protein
A 3-year-old child with short-limbed dwarfism has the clinical features shown in Figures A & B. What is the pathoanatomy of this disease?
Sulfate transport protein gene mutation affecting cartilage matrix formation
Mutation in the gene CBFA-1 affecting osteocalcin formation
Defect in lysosomal-storage
Defect in lipid-storage
Mutation in gene FGFR-3 resulting in growth plate growth abnormality