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Achondroplasia: Quiz

  
  

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Question 1: Although used by those without achondroplasia to aid in growth, ________ does not help people with achondroplasia.
Growth hormone treatmentGrowth hormoneInsulin-like growth factor 1Prolactin

Question 2: The diagnosis can be made by fetal ________ by progressive discordance between the femur length and biparietal diameter by age.
LiverUltrasoundAcousticsMedical ultrasonography

Question 3: Achondroplasia dwarfism (pronounced /əˌkɒndrɵˈpleɪziə/) is a type of autosomal dominant genetic disorder that is a common cause of ________.
ICD-10 Chapter XVII: Congenital malformations, deformations and chromosomal abnormalitiesGrowth hormone deficiencyLaron syndromeDwarfism

Question 4: If the ________ features are not classic, a search for a different diagnosis should be entertained.
Ionizing radiationX-rayRadiographyGamma ray

Question 5: In about 98% of cases, a G to A point mutation at nucleotide 1138 of the FGFR3 gene causes a glycine to ________ substitution (Bellus et al.
LysineArginineCysteineGlutamic acid

Question 6: Achondroplasia can be detected before birth by the use of prenatal ________.
AcousticsUltrasoundMedical ultrasonographyLiver

Question 7: Dwarfism is a result of ________ mutation in the fibroblast growth factor receptor gene 3 (FGFR3), which causes an abnormality of cartilage formation.
GeneticsChromosomeDominance (genetics)Allele

Question 8: Achondroplasia is one of several congenital conditions with similar presentations, such as ________, multiple epiphyseal dysplasia tarda, achondrogenesis, osteopetrosis, and thanatophoric dysplasia.
Osteogenesis imperfectaOsteopoikilosisAlport syndromeEhlers-Danlos syndrome
















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