| Answer to PhotoQuiz 60 |
| Nail-patella syndrome (OMIM #161200) |
| Nail-patella syndrome is an autosomal dominant disorder characterized by nail abnormalities, small or absent patellae, elbow joint contractures, and the presence of iliac horns. Nails may be absent, hypoplastic, dystrophic, ridged, pitted, or discolored. Iliac horns are seen as projections arising from the central part of the iliac bones of the pelvis. Affected individuals can have renal involvement and develop proteinuria, hematuria, and end-stage renal disease. Nail-patella syndrome is caused by heterozygous pathogenic variants in the LMX1B gene (*602575). |
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| Correct responses were given by: |
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1. Dr Sanjeev Aggarwal, Kinder Care Clinic, New Delhi 2. Dr Geetha Chanda, Rainbow Children's Hospital, Hyderabad 3. Dr Mansi K Shah, Lokmanya Tilak Municipal General Hospital & Medical College (LTMMC), Sion, Mumbai 4. Ms Maitri Jain, Genetic Care, Zydus Hospitals & HCG Hospitals, Ahmedabad 5. Dr Deepika Gulati Manoj, Base Hospital, Delhi Cantonment, Delhi 6. Dr Vibha Jain, Punarjyoti Eye and Mother Care Centre, Ghaziabad 7. Dr Kanika Singh, Medanta Hospital, Gurugram 8. Dr Surya G Krishnan, Centre for Human Genetics, Bengaluru 9. Dr Sreelata Nair, Lifeline Super Specialty Hospital, Adoor, Pathanamthitta, Kerala 10. Dr Pallavi Sinha, Sir Ganga Ram Hospital, New Delhi 11. Dr Preveen S, Government Hospital, Peraurani, Tamil Nadu 12. Dr Mounika Endrakanti, All India Institute of Medical Sciences, New Delhi 13. Dr Mallikarjun Patil, Aster Hospital, Bengaluru 14. Dr Vinu N, Manipal Hospital, Bengaluru 15. Dr Ravneet Kaur, Motherhood Chaitanya Hospital, Chandigarh 16. Dr Ashka Prajapati, Ahmedabad 17. Dr Nirali Desai, Mumbai |