| Case no.: | TL-00198 |
| Status: | Live (This case is available for Library users) |
| Title: | Young lady with hypermobile shoulders |
| Background: A young adult lady suffered from “narrow sloping shoulders” since birth, she was told by her doctor that this was due to a congenital condition caused by mutations in the “RUNX2 gene”. She had history of epilepsy and was admitted for breakthrough seizure. On examination she had hypermobile shoulders. CXR showed absence of a normal structure. CT brain was performed as shown. |
   (Click image to enlarge)
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| Question: | Which of the following is NOT a feature of her congenital condition? |
Possible
answers: |
| (a): | Short stature |
| (b): | Abnormal dentition |
| (c): | Delayed closing of fontanels |
| (d): | Osteopenia |
| (e): | Low intelligence(specified as the correct answer) | |
| Reason: This lady suffered from cleidocranial dysplasia, which is an autosomal-dominant skeletal dysplasia characterized by absent clavicles (shown by CXR), delayed skull bone ossification (shown by CT brain), short stature, abnormal dentition and osteopenia, due to mutations in the RUNX2 gene. Intelligence of patients is generally unaffected. |
| Further comments: No comments given for this case |
| References: |
| 1: | Broeks I, Veenstra-Knol IE, Kamps AW. A rare presentation of cleidocranial dysplasia. BMJ Case Rep.2012; 2012:bcr0320126101. |
| 2: | Otto F, Kanegane H, Mundlos S. Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Hum Mutat. 2002 Mar;19(3):209-16. doi: 10.1002/humu.10043. PMID: 11857736. |
| 3: | https://rarediseases.info.nih.gov/diseases/6118/cleidocranial-dysplasia | |
| Key words: |
| 1: | Absent clavicles |
| 2: | Cleidocranial dysplasia |
| 3: | No keyword 3 given for this case | |
| Submitted by: Charles Wong |
Assembly/
Specialty: | Respiratory Structure and Function |
| Institution: | Pamela Youde Nethersole Eastern Hospital, HKSAR |
| Address: | 3 Lok Man Road, Chai Wan, Hong Kong |
| Phone: | +852 25956111 |
| Fax: | / |
| Email: | respirologistlesarch@gmail.com |
| Level of difficulty: Intermediate |
| Willing to answer queries from users until: 29 Nov 2021 |
| Additional notes to APSR Case Reviewers: No note given for this case |
