Contributed by: Dr Prajnya Ranganath Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India
	Email: prajnyaranganath@gmail.com
	This infant was referred for evaluation of developmental delay and seizures. Significant improvement in symptoms was noted after starting specific metabolic therapy.
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Answer to PhotoQuiz 58

Cornelia de Lange Syndrome

Cornelia de Lange syndrome is a monogenic disorder characterized by prenatal and postnatal growth restriction, distinctive craniofacial appearance, hypertrichosis, upper-limb reduction defects and global developmental delay. Facial features are characteristic and include microcephaly, synophrys, thick arched eyebrows, long eyelashes, anteverted nares, and long smooth philtrum. Cardiac anomalies, gastrointestinal dysfunction, and genitourinary abnormalities are frequent findings. Cornelia de Lange Syndrome is genetically heterogeneous and is caused by pathogenic variants in the NIPBL, RAD21, SMC3, HDAC8 or SMC1A genes.

Correct responses were given by:

1. Dr Haseena Sait, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 2. Dr Suvarna Magar, MGM Medical College, Aurangabad, Maharashtra 3. Dr Nisha M, Moulana Hospital and ARMC Aegis Hospital, Malappuram, Kerala 4. Dr Vibha Jain, Anuvanshiki, Ghaziabad 5. Dr Kruti Varshney, Centre for Human Genetics, Bengaluru 6. Dr Sarah Bailur, Rainbow Children's Hospital, Hyderabad 7. Dr Surendra Pratap, PMHS, Prayagraj, Uttar Pradesh 8. Dr Ambika Gupta, Apollo Hospitals, Bengaluru 9. Dr Mohandas Nair, Government Medical College, Idukki, Kerala 10. Dr Poonam Singh Gambhir, Regency Hospital&Vardaan Genetic Centre, Kanpur 11. Dr Ranjana Mishra, Maulana Azad Medical College & Lok Nayak Hospital, Delhi 12. Dr Sangeeta Khatter, Jindal IVF Hospital, Chandigarh 13. Dr Aruna Gowda, Indira Gandhi Institute of Child Health, Bengaluru 14. Dr Praisy Joy, All India Institute of Medical Sciences, Bhubaneswar, Odisha 15. Dr Sreelata Nair, Lifeline Super Specialty Hospital, Adoor, Pathanamthitta, Kerala 16. Dr Surya G Krishnan, Child Central Clinic, Bengaluru 17. Dr Rajeshwari N, Dr Kamakshi Memorial Hospital, Chennai, Tamil Nadu 18. Dr Meenakshi Lallar, Prime Imaging and Prenatal Diagnostics, Chandigarh 19. Dr Debarghya Pan, North Bengal Medical College and Hospital, Siliguri, West Bengal 20. Dr Muralidhar Kulkarni, JJM Medical College, Davangere, Karnataka 21. Dr Suhasini V, Davangere Scan and Fetal Centre, Davangere, Karnataka 22. Dr K Gayatri, Kurnool, Andhra Pradesh