Supplementary Information

A REVIEW OF SKELETAL DYSPLASIA RESEARCH IN with brief review. Intractable Rare Dis Res 2016;5:117-20. INDIA 25. Briggs TA, Rice GI, Daly S, Urquhart J, Gornall H, Bader-Meunier B, et al. Tartrate-resistant acid phosphatase deficiency causes a bone List of all the five categories of PubMed search related skeletal dysplasia with autoimmunity and a type I interferon expression dysplasia publications from India signature. Nat Genet 2011;43:127-31. 26. CN, Shakuntala BS, Mathew S, Krishnamurthy NH, Yumkham R. Cleidocranial dysplasia presenting with retained deciduous teeth in Reports on phenotypes: a 15-year-old girl: A case report. J Med Case Rep 2012;6:25. 1. Agarwal D, Nayak SS, Adiga PK, Phadke SR, Girisha KM. Symmetrical 27. Candamourty R, Venkatachalam S, Yuvaraj V, Kumar GS. Cleidocranial terminal transverse limb deficiencies. Indian J Pediatr 2015;82:478-9. dysplasia with hearing loss. J Nat Sci Biol Med 2013;4:245-9. 2. Aggarwal V, Aggarwal N, Venkat B. Langer's mesomelic dysplasia: A 28. Chakraborty PP, Biswas SN, Ray S, Dey SK. Mucopolysaccharidosis case report. J Pediatr Orthop B 2014;23:200-2. type I disguised as rickets. BMJ Case Rep 2016;2016. pii: 3. Agrawal A, Agrawal R, Purandare N, Shah S, Rangarajan V. Extensive bcr2016215416. melorheostosis of the ribs demonstrated on 18F-fluoride PET/CT. Eur 29. Chandra N, Kumar S, Raj V, Vishwakarma PK, Sinha S, Saha RP, et al. J Nucl Med Mol Imaging 2015;42:533-4. Jarcho-Levin syndrome with splenic herniation: A rare presentation. 4. Agrawal A, Gupta SK, Saxena P, Kumar P. Non-familial cherubism: Am J Case Rep 2016;17:745-8. Clinical and radiological findings. BMJ Case Rep 2014;2014. pii: 30. Chavali LV, Bhimalingam RM, Sudhakar PV. Cherubism – A case report bcr2013202031. with long term follow up. Indian J Pathol Microbiol 2011;54:793-5. 5. Ahmad Z, Zubair I. Fibrous dysplasia of rib presenting as a cystic 31. Chhabra S, Chopra R, Handa U, Punia RS, Mohan H. Cytomorphologic mass in the lung. Oxf Med Case Reports 2015;2015:196-9. features of chondroid neoplasms: A comparative study. Acta Cytol 6. Ahmed A, Mufeed A, Ramachamparambathu AK, Hasoon U. 2010;54:1101-10. Identifying Aarskog syndrome. J Clin Diagn Res 2016;10:ZD09-11. 32. Chikkannaiah P, Dhumale H, Kangle R, Shekar R. Limb body wall 7. Ajila V, Hegde S, Gopakumar R, Babu GS. Imaging and histopathological complex: A rare anomaly. J Lab Physicians 2013;5:65-7. features of Jacob's disease: A case study. Head Neck Pathol 33. Chittem L, Bhattacharjee S, Ranganath P. Craniosynostosis in a 2012;6:51-3. child with I-cell disease: The need for genetic analysis before 8. Aravinda K, Ratnakar P, Srinivas K. Oral manifestations of McCune- contemplating surgery in craniosynostosis. J Pediatr Neurosci Albright syndrome. Indian J Endocrinol Metab 2013;17:170-3. 2014;9:33-5. 9. Arora P, Deora SS, Kiran S, Bargale SD. Osteochondroma of condyle: 34. DasGupta R, Jebasingh FK, Asha HS, Thomas N. Cleidocranial Case discussion and review of treatment modalities. BMJ Case Rep dysostosis. BMJ Case Rep 2015;2015. pii: bcr2015211308. 2014;2014. pii: bcr2013200759. 35. Dasgupta R, Thomas N. Spotted bone disease. BMJ Case Rep 10. Arora R, Aggarwal S, Deme S. Ghosal hematodiaphyseal dysplasia-a concise review including an illustrative patient. Skeletal Radiol 2015;2015. pii: bcr2014208422. 2015;44:447-50. 36. Datta K, Karmakar M, Hira M, Halder S, Pramanik K, Banerjee G, 11. Arya R, Sharma S, Gupta N, Kumar S, Kabra M, Gulati S, et al. Schwartz et al. Ghosal hematodiaphyseal dysplasia with myelofibrosis. Indian Jampel syndrome in children. J Clin Neurosci 2013;20:313-7. J Pediatr 2013;80:1050-2. 12. Ashish G, Shashikant J, Ajay P, Subhash D. Melorheostosis of the 37. Davanageri RS, Shokeen PD, Bannur HB, Patil KP. Thanatophoric foot: A Case report of a rare entity with a review of multimodality dysplasia type I: A rare case report at fetal autopsy. J Lab Physicians imaging emphasizing the importance of conventional radiography in 2014;6:121-3. diagnosis. J Orthop Case Rep 2016;6:79-81. 38. Dewan P, Gidaganti S, Faridi MM, Batra P, Sudhanshu S. Unusual cause 13. Balaji GG, Patil NK, Menon J. Congenital extraskeletal osteochondroma of hypocalcemic seizures in a neonate. Indian J Pediatr 2014;81:831-2. of the web space displacing the lesser toes: A Unique presentation. 39. Dewan P, Rai A, Gupta N, Shah D, Faridi MM. A rare lethal case of J Foot Ankle Surg 2015;54:726-9. chondrodysplasia punctata with extensive airway involvement. Fetal 14. Shah KH, Shah H. A rare combination of amniotic constriction band Pediatr Pathol 2012;31:134-9. with osteogenesis imperfecta. BMJ Case Rep 2015;2015. pii: 40. Dewan P, Tandon A, Rohatgi S, Qureshi S. Multifocal tuberculous bcr2015212400. osteomyelitis in a 3-year-old child. Paediatr Int Child Health 15. Bansal P, Singh V, Anand SC, Bansal S. 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Indian J Med Res 2010;131:508-14. et al. Analysis of the WISP3 gene in Indian families with progressive 33. Phadke SR, Gupta N, Girisha KM, Kabra M, Maeda M, Vidal E, et al. pseudorheumatoid dysplasia. Am J Med Genet A 2012;158A:2820-8. Rhizomelic chondrodysplasia punctata type 1: Report of mutations 10. Girisha KM, Bidchol AM, Graul-Neumann L, Gupta A, Hehr U, Lessel D, in 3 children from India. J Appl Genet 2010;51:107-10. et al. Phenotype and genotype in patients with Larsen syndrome: 34. Mandal K, Ray S, Saxena D, Srivastava P, Moirangthem A, Ranganath P, Clinical homogeneity and allelic heterogeneity in seven patients. et al. Pycnodysostosis: Mutation spectrum in five unrelated Indian BMC Med Genet 2016;17:27. children. Clin Dysmorphol 2016;25:113-20. 11. Girisha KM, Bidchol AM, Kamath PS, Shah KH, Mortier GR, Mundlos S, 35. Rai E, Mahajan A, Kumar P, Angural A, Dhar MK, Razdan S, et al. Whole et al. A novel mutation (g.106737G>T) in zone of polarizing activity exome screening identifies novel and recurrent WISP3 mutations regulatory sequence (ZRS) causes variable limb phenotypes in Werner causing progressive pseudorheumatoid dysplasia in Jammu and mesomelia. Am J Med Genet A 2014;164A:898-906. Kashmir-India. Sci Rep 2016;6:27684. 12. Girisha KM, Cormier-Daire V, Heuertz S, Phadke RV, Phadke SR. Novel 36. Ranganath P, Laine CM, Gupta D, Mäkitie O, Phadke SR. COL1A1 mutation and atlantoaxial dislocation in two siblings from India with mutation in an Indian child with Caffey disease. Indian J Pediatr dyggve-Melchior-Clausen syndrome. Eur J Med Genet 2008;51:251- 2011;78:877-9. 6. 37. Ranganath P, Stephen J, Iyengar R, Phadke SR. Worsening of callus 13. Girisha KM, Phadke SR, Khan F, Agrawal S. S252W mutation in Indian hyperplasia after bisphosphonate treatment in type V osteogenesis patients of Apert syndrome. Indian Pediatr 2006;43:733-5. imperfecta. 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Siddaiahgari SR, Makadia D, Shah N, Devi RR, Lingappa L. age of presentation: Clinical description of a case and review of the Identification of novel mutation in autosomal recessive infantile literature. BMJ Case Rep 2015;2015. pii: bcr2015209305. malignant osteopetrosis. Indian J Pediatr 2014;81:969-70. 17. Hebbar M, Girisha KM, Shukla A. Classical cleidocranial dysplasia 41. Singh A, Cuevas-Covarrubias S, Pradhan G, Gautam VK, Messina- in an adult, due to a novel frameshift pathogenic variant in RUNX2. Baas O, Gonzalez-Huerta LM, et al. Novel mutation and white matter BMJ Case Rep 2016;2016. pii: bcr2016215162. involvement in an Indian child with pycnodysostosis. Indian J Pediatr 18. Jahnavi S, Poovazhagi V, Kanthimathi S, Gayathri V, Mohan V, Radha V, 2015;82:471-3. et al. EIF2AK3 mutations in South Indian children with permanent 42. Singh A, Kim OH, Iida A, Park WY, Ikegawa S, Kapoor S, et al. A novel neonatal diabetes mellitus associated with Wolcott-Rallison CANT1 mutation in three Indian patients with desbuquois dysplasia syndrome. Pediatr Diabetes 2014;15:313-8. Kim type. Eur J Med Genet 2015;58:105-10. 19. Jeevan A, Doyard M, Kabra M, Daire VC, Gupta N. Ghosal type 43. Singh A, Krishnan R, Bhattacharya M, Pradhan G, Salzer U, Kapoor S, hematodiaphyseal dysplasia. Indian Pediatr 2016;53:347-8. et al. Cartilage hair hypoplasia and celiac disease: Report of an Indian 20. Kantaputra PN, Kayserili H, Guven Y, Kantaputra W, Balci MC, girl with novel genotype. Indian J Gastroenterol 2013;32:409-12. Tanpaiboon P, et al. Clinical manifestations of 17 patients affected 44. Singh A, Singh K, Goel R, Hu Y, Reichenberger E, Kapoor S, et al. with mucopolysaccharidosis type VI and eight novel ARSB mutations. Genetic study of an Indian family with cherubism. Indian J Pediatr Am J Med Genet A 2014;164A:1443-53. 2014;81:299-301. 21. Khare S, Goroshi MR, Budyal S, Bandgar T, Lila A, Shah N, et al. 45. Srivastava P, Tuteja M, Dalal A, Mandal K, R Phadke S. Novel mutations Wolcott Rallison syndrome: A rare inherited diabetes mellitus. Indian in the transmembrane natriuretic peptide receptor NPR-B gene in J Pediatr 2014;81:1225-7. four Indian families with acromesomelic dysplasia, type maroteaux. 22. Kotabagi S, Shah H, Shukla A, Girisha KM. Second family provides J Genet 2016;95:905-9. further evidence for causation of steel syndrome by biallelic 46. Stephen J, Girisha KM, Dalal A, Shukla A, Shah H, Srivastava P, mutations in COL27A1. Clin Genet 2017;92:323-6. et al. Mutations in patients with osteogenesis imperfecta from 23. Malik S, Girisha KM, Wajid M, Roy AK, Phadke SR, Haque S, consanguineous Indian families. Eur J Med Genet 2015;58:21-7. et al. Synpolydactyly and HOXD13 polyalanine repeat: Addition of 2 47. 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