Download - Extra credit case study
![Page 1: Extra credit case study](https://reader035.vdocuments.us/reader035/viewer/2022070602/58740f731a28ab6f1d8b82e1/html5/thumbnails/1.jpg)
EXTRA CREDITJADE STORLEY
![Page 2: Extra credit case study](https://reader035.vdocuments.us/reader035/viewer/2022070602/58740f731a28ab6f1d8b82e1/html5/thumbnails/2.jpg)
CONSIDER THE FOLLOWING PATIENTA 14 year old female, Hermione, who was born with a short big toe. The big toes has a deformation called valgus deviation. Since childhood she has experienced skin abnormality, ectopic calcification, and limitation in joint mobility.
![Page 3: Extra credit case study](https://reader035.vdocuments.us/reader035/viewer/2022070602/58740f731a28ab6f1d8b82e1/html5/thumbnails/3.jpg)
QUESTIONWhat could be a potential diagnosis for this patient?
![Page 4: Extra credit case study](https://reader035.vdocuments.us/reader035/viewer/2022070602/58740f731a28ab6f1d8b82e1/html5/thumbnails/4.jpg)
![Page 5: Extra credit case study](https://reader035.vdocuments.us/reader035/viewer/2022070602/58740f731a28ab6f1d8b82e1/html5/thumbnails/5.jpg)
![Page 6: Extra credit case study](https://reader035.vdocuments.us/reader035/viewer/2022070602/58740f731a28ab6f1d8b82e1/html5/thumbnails/6.jpg)
CAUSES Causes• Can be inherited as autosomal dominant trait• Mutation of a gene on chromosome 2 (2q23-24) for a
receptor in the BMP signaling pathway (ACVR1)• BMP are regulatory proteins that are used for the
formation and repair of the skeleton
![Page 7: Extra credit case study](https://reader035.vdocuments.us/reader035/viewer/2022070602/58740f731a28ab6f1d8b82e1/html5/thumbnails/7.jpg)
DIAGNOSIS AND TREATMENTDiagnosis• Examination of big toe• Sequencing of ACVR1 gene
Treatment• No known treatments• Occupational therapy and genetic counseling may be
advised
![Page 8: Extra credit case study](https://reader035.vdocuments.us/reader035/viewer/2022070602/58740f731a28ab6f1d8b82e1/html5/thumbnails/8.jpg)
![Page 9: Extra credit case study](https://reader035.vdocuments.us/reader035/viewer/2022070602/58740f731a28ab6f1d8b82e1/html5/thumbnails/9.jpg)
QUESTIONHow would gene counseling be beneficial?
![Page 10: Extra credit case study](https://reader035.vdocuments.us/reader035/viewer/2022070602/58740f731a28ab6f1d8b82e1/html5/thumbnails/10.jpg)
AFFECTED INDIVIDUALS• Very rare disease• Estimated 3,000 affected individuals worldwide• 800 known diagnosed patients• Affects all genders and ethnicities
![Page 11: Extra credit case study](https://reader035.vdocuments.us/reader035/viewer/2022070602/58740f731a28ab6f1d8b82e1/html5/thumbnails/11.jpg)
RECOMMENDATIONS FOR AFFECTED INDIVIDUALS• Avoid intramuscular injections• Practice good oral care• Avoid traumatic injuries• Low-intensity and low-impact exercise is recommended• Avoid tight clothing (may cause flare-ups)