WBR0102
| Author | PageAuthor::William J Gibson |
|---|---|
| Exam Type | ExamType::USMLE Step 1 |
| Main Category | MainCategory::Genetics |
| Sub Category | SubCategory::Cardiology, SubCategory::Musculoskeletal/Rheumatology |
| Prompt | [[Prompt::A 10 year old girl is taken into the custody of child protective services after her teacher notices that she has had the consistent appearance of new bruises for the second month in a row. She is brought to a pediatrician for medical examination. The pediatrican collects a thorough history during which the girl insists that her parents have not harmed her, she just “plays rough”. Further questioning reveals that the girl would like to perform in a circus, because she is unusually flexible and can contort her limbs in ways her peers cannot. Physical exam is remarkable for hyperextensible skin. The physican reassures the girl and advises child protective services that the child may return to her parents. Which of the following is most true of the child’s condition?]] |
| Answer A | AnswerA::Caused by defects in fibrillin. |
| Answer A Explanation | AnswerAExp::Incorrect - this is true of Marfan syndrome. |
| Answer B | AnswerB::Caused by defects in hydroxylation of proline residues |
| Answer B Explanation | AnswerBExp::Incorrect - this is true of scurvy, or vitamin C deficiency |
| Answer C | AnswerC::Caused by defects in Type I Collagen |
| Answer C Explanation | AnswerCExp::Incorrect - While the Arthrochalasia subtype of Ehlers Danlos syndrome can be caused by defects in Type I Collagen, only 30 cases have been reported. Defects in Type I Collagen much more commonly cause Osteogenesis Imperfecta. |
| Answer D | AnswerD::Associated with nephritis |
| Answer D Explanation | AnswerDExp::Incorrect - This is true of Alport Syndrome. |
| Answer E | AnswerE::Associated with formation of berry aneurysms |
| Answer E Explanation | AnswerEExp::Correct - See explanation. |
| Right Answer | RightAnswer::E |
| Explanation | [[Explanation::The child in this vignette is suffering from Ehlers-Danlos syndrome.
References: First Aid 2012 page 83. |
| Approved | Approved::Yes |
| Keyword | |
| Linked Question | Linked:: |
| Order in Linked Questions | LinkedOrder:: |