| Answer to PhotoQuiz 57 |
| Cleidocranial dysplasia (OMIM #119600) |
| Cleidocranial dysplasia (CCD) is a skeletal dysplasia characterized by delayed closure of the cranial sutures, hypoplastic or aplastic clavicles, and dental abnormalities including supernumerary teeth and delayed eruption of permanent teeth. Milder forms of CCD may have isolated dental anomalies without the skeletal features.Clavicular hypoplasia typically leads to narrow, sloping shoulders that can be opposed at the midline.It is caused by heterozygous pathogenic variant in the RUNX2 gene (*600211) and has an autosomal dominant pattern of inheritance. |
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| Correct responses were given by: |
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1. Dr SJayachandran, Tamil Nadu Govt. Dental College and Hospital, Chennai, Tamil Nadu 2. Dr Suhasini Vittal Rao, Davangere Scan and Fetal Medicine Centre.Davangere Karnataka 3. Dr Muralidhar Kulkarni, Davangere, Karnataka 4. Dr Haseena Sait, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh 5. Dr Vaishakh Anand, Amrita Institute of Medical Sciences, Kochi, Kerala 6. Dr Suvarna Magar, MGM Medical College, Aurangabad, Maharashtra 7. Dr Shivalaxmi Manchukonda, Nizam's Institute of Medical Sciences, Hyderabad, Telangana 8. Dr Kruti Varshney, Centre for Human Genetics, Bangalore, Karnataka 9. Dr Surya G Krishnan, Centre for Human Genetics, Bangalore, Karnataka 10. Dr Komal Uppal, Lok Nayak Hospital, Delhi 11. Dr Kanika Singh, Maulana Azad Medical College, Delhi 12. Dr Ravi, Kota, Rajasthan 13. Dr Sreelata Nair, Lifeline Super Specialty Hospital, Adoor, Pathanamthitta, Kerala 14. Dr Ambika Gupta, Maulana Azad Medical College, Delhi 15. Dr Bharti Singh, Indian Railway Health Services, Mumbai, Maharashtra 16. Dr Ashka Prajapathi, Ahmedabad, Gujarat 17. Dr Sarah Bailur. Rainbow Children's Hospital, Hyderabad, Telangana 18. Dr Bashir Ahmad Charoo, SKIMS, Srinagar, Jammu & Kashmir 19. Dr Bhawana Aggarwal, All India Institute of Medical Sciences, Delhi 20. Dr Neha Agrawal, Dr Ram Manohar Lohia Institute of Medical Sciences, Lucknow, Uttar Pradesh 21. Dr Sangeeta, Jindal IVF Hospital, Chandigarh 22. Dr Rajeshwari N, Dr Kamakshi Memorial Hospital, Chennai, Tamil Nadu 23. Dr Praisy Joy, All India Institute of Medical Sciences, Bhubaneswar, Odisha 24. Dr Gargi, Western Australia 25. Dr Madan Gopal R, Institute of Bioinformatics, Bangalore, Karnataka 26. Dr Anikha Bellad, Bangalore, Karnataka 27. Dr Jyoti P Kulkarni, All India Institute of Medical Sciences, Mangalagiri, Guntur, Andhra Pradesh 28. Dr Ravneet Kaur, Motherhood Chaitanya Hospital, Chandigarh 29. Dr Jayarekha Raja, Mediscan Systems, Chennai, Tamil Nadu 30. Dr Beena Suresh, Mediscan Systems, Chennai, Tamil Nadu 31. Dr Meenakshi Lallar, Prime Hospital, Chandigarh 32. Dr Nishant Rathod, NeuroWorld Clinic, Rajkot, Gujarat 33. Dr Gayatri K, Kurnool, Andhra Pradesh 34. Dr Jagadish Bhat, Goa Medical College, Bambolim, Goa 35. Dr Surendra Pratap 36. Dr Sakshi Rajoria |