1. International nomenclature of constitutional diseases of bones. Ann Radiol (Paris) 1970;13(7):455-64.
2. International nomenclature and classification of the osteochondrodysplasias (1997). International Working Group on Constitutional Diseases of Bone. Am J Med Genet 1998;79(5):376-82.
3. Superti-Furga A, Bonafe L and Rimoin DL. Molecular-pathogenetic classification of genetic disorders of the skeleton. Am J Med Genet 2001;106(4):282-93.
4. Hall CM. International nosology and classification of constitutional disorders of bone (2001). Am J Med Genet 2002;113(1):65-77.
5. Superti-Furga A, Unger S. Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet A 2007;143(1):1-18.
6. Scott CI,Jr. Achondroplastic and hypochondroplastic dwarfism. Clin Orthop Relat Res 1976;(114)(114):18-30.
7. Pauli RM, Scott CI and Wassman ER,Jr, et al. Apnea and sudden unexpected death in infants with achondroplasia. J Pediatr 1984;104(3):342-8.
8. Pauli RM, Horton VK, Glinski LP and Reiser CA. Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia. Am J Hum Genet 1995;56(3):732-44.
9. Rimoin DL. Cervicomedullary junction compression in infants with achondroplasia: when to perform neurosurgical decompression. Am J Hum Genet 1995;56(4):824-7.
10. Maroteaux P, Falzon P. Hypochondroplasia. Review of 80 cases. Arch Fr Pediatr 1988;45(2):105-9.
11. Shiang R, Thompson LM and Zhu YZ, et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 1994;78(2):335-42.
12. Rousseau F, Bonaventure J and Legeai-Mallet L, et al. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature 1994;371(6494):252-4.
13. Schiller S, Spranger S and Schechinger B, et al. Phenotypic variation and genetic heterogeneity in Leri-Weill syndrome. Eur J Hum Genet 2000;8(1):54-62.
14. Rao E, Weiss B and Fukami M, et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 1997;16(1):54-63.
15. Ellison JW, Wardak Z, Young MF, Gehron Robey P, Laig-Webster M and Chiong W. PHOG, a candidate gene for involvement in the short stature of Turner syndrome. Hum Mol Genet 1997;6(8):1341-7.
16. Clement-Jones M, Schiller S and Rao E, et al. The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Hum Mol Genet 2000;9(5):695-702.
17. Rao E, Blaschke RJ, Marchini A, Niesler B, Burnett M and Rappold GA. The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator. Hum Mol Genet 2001;10(26):3083-91.
18. Ogata T. SHOX: pseudoautosomal homeobox containing gene for short stature and dyschondrosteosis. Growth Horm IGF Res 1999;9 Suppl B:53,7; discussion 57-8.
19. Rappold GA, Fukami M and Niesler B, et al. Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. J Clin Endocrinol Metab 2002;87(3):1402-6.
20. Sillence DO, Rimoin DL and Danks DM. Clinical variability in osteogenesis imperfecta-variable expressivity or genetic heterogeneity. Birth Defects Orig Artic Ser 1979;15(5B):113-29.
21. Glorieux FH, Rauch F and Plotkin H, et al. Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res 2000;15(9):1650-8.
22. Byers PH, Wallis GA and Willing MC. Osteogenesis imperfecta: translation of mutation to phenotype. J Med Genet 1991;28(7):433-42.
23. Byers PH, Bonadio JF, Cohn DH, Starman BJ, Wenstrup RJ and Willing MC. Osteogenesis imperfecta: the molecular basis of clinical heterogeneity. Ann N Y Acad Sci 1988;543:117-28.
24. Willing MC, Deschenes SP and Scott DA, et al. Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. Am J Hum Genet 1994;55(4):638-47.
25. Bateman JF, Chan D, Mascara T, Rogers JG and Cole WG. Collagen defects in lethal perinatal osteogenesis imperfecta. Biochem J 1986;240(3):699-708.
26. Rauch F, Travers R, Parfitt AM and Glorieux FH. Static and dynamic bone histomorphometry in children with osteogenesis imperfecta. Bone 2000;26(6):581-9.
27. Glorieux FH. Bisphosphonate therapy for severe osteogenesis imperfecta. J Pediatr Endocrinol Metab 2000;13 Suppl 2:989-92.
28. Glorieux FH, Bishop NJ, Plotkin H, Chabot G, Lanoue G and Travers R. Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. N Engl J Med 1998;339(14):947-52.
29. Plotkin H, Rauch F and Bishop NJ, et al. Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age. J Clin Endocrinol Metab 2000;85(5):1846-50.
30. Marini JC, Bordenick S and Heavner G, et al. The growth hormone and somatomedin axis in short children with osteogenesis imperfecta. J Clin Endocrinol Metab 1993;76(1):251-6.
31. Vieira NE, Goans RE, Weiss GH, Hopkins E, Marini JC and Yergey AL. Calcium kinetics in children with osteogenesis imperfecta type III and IV: pre- and post-growth hormone therapy. Calcif Tissue Int 2000;67(2):97-100.
32. Horwitz EM, Prockop DJ and Gordon PL, et al. Clinical responses to bone marrow transplantation in children with severe osteogenesis imperfecta. Blood 2001;97(5):1227-31.
33. Oyama M, Tatlock A and Fukuta S, et al. Retrovirally transduced bone marrow stromal cells isolated from a mouse model of human osteogenesis imperfecta (oim) persist in bone and retain the ability to form cartilage and bone after extended passaging. Gene Ther 1999;6(3):321-9.
34. Norman M. Juvenile Osteoporosis. In: American Society for Bone and Mineral Research, eds. Primer on the Metabolic Done Diseases and Disorders of Mineral Metabolism. 3rd ed. New York: Lippincott-Raven, 1996:275-286.
35. Jowsey J, Johnson KA. Juvenile osteoporosis: bone findings in seven patients. J Pediatr 1972;81(3):511-7.
36. Smith R. Idiopathic osteoporosis in the young. J Bone Joint Surg Br 1980;62-B(4):417-27.
37. Gerritsen j, Vossen j and Loo I, et al. Autosomal recessive osteoporosis: variability of findings at diagnosis and during the natural course. Pediatr 1994;93:247-253.
38. Benichou OD, Laredo JD and de Vernejoul MC. Type II autosomal dominant osteopetrosis (Albers-Schonberg disease): clinical and radiological manifestations in 42 patients. Bone 2000;26(1):87-93.
39. Bollerslev J. Autosomal dominant osteopetrosis: bone metabolism and epidemiological, clinical, and hormonal aspects. Endocr Rev 1989;10(1):45-67.
40. de Vernejoul MC, Benichou O. Human osteopetrosis and other sclerosing disorders: recent genetic developments. Calcif Tissue Int 2001;69(1):1-6.
41. Gerritsen EJ, Vossen JM and Fasth A, et al. Bone marrow transplantation for autosomal recessive osteopetrosis. A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group. J Pediatr 1994;125(6 Pt 1):896-902.
42. Gelb BD, Shi GP, Chapman HA and Desnick RJ. Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science 1996;273(5279):1236-8.
43. Whyte MP. Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization. Endocr Rev 1994;15(4):439-61.
44. Mornet E. Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene. Hum Mutat 2000;15(4):309-15.
45. Jan de Beur SM, Levine MA. Molecular pathogenesis of hypophosphatemic rickets. J Clin Endocrinol Metab 2002;87(6):2467-73.
46. de Menezes Filho H, de Castro LC and Damiani D. Hypophosphatemic rickets and osteomalacia. Arq Bras Endocrinol Metabol 2006;50(4):802-13.
47. Holm IA, Nelson AE and Robinson BG, et al. Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 2001;86(8):3889-99.
48. Jonsson KB, Zahradnik R and Larsson T, et al. Fibroblast growth factor 23 in oncogenic osteomalacia and X-linked hypophosphatemia. N Engl J Med 2003;348(17):1656-63.
49. Jones A, Tzenova J and Frappier D, et al. Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene. J Am Soc Nephrol 2001;12(3):507-14.
50. Petersen DJ, Boniface AM, Schranck FW, Rupich RC and Whyte MP. X-linked hypophosphatemic rickets: a study (with literature review) of linear growth response to calcitriol and phosphate therapy. J Bone Miner Res 1992;7(6):583-97.
51. Glorieux FH, Scriver CR, Reade TM, Goldman H and Roseborough A. Use of phosphate and vitamin D to prevent dwarfism and rickets in X-linked hypophosphatemia. N Engl J Med 1972;287(10):481-7.
52. Chesney RW, Mazess RB, Rose P, Hamstra AJ, DeLuca HF and Breed AL. Long-term influence of calcitriol (1,25-dihydroxyvitamin D) and supplemental phosphate in X-linked hypophosphatemic rickets. Pediatrics 1983;71(4):559-67.
53. Haffner D, Nissel R, Wuhl E and Mehls O. Effects of growth hormone treatment on body proportions and final height among small children with X-linked hypophosphatemic rickets. Pediatrics 2004;113(6):e593-6.
54. Econs MJ, McEnery PT, Lennon F and Speer MC. Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13. J Clin Invest 1997;100(11):2653-7.
55. Tieder M, Modai D and Samuel R, et al. Hereditary hypophosphatemic rickets with hypercalciuria. N Engl J Med 1985;312(10):611-7.
56. Fraser D, Kooh SW, Kind HP, Holick MF, Tanaka Y and DeLuca HF. Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D. N Engl J Med 1973;289(16):817-22.
57. Kitanaka S, Takeyama K and Murayama A, et al. Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets. N Engl J Med 1998;338(10):653-61.
58. Brooks MH, Bell NH and Love L, et al. Vitamin-D-dependent rickets type II. Resistance of target organs to 1,25-dihydroxyvitamin D. N Engl J Med 1978;298(18):996-9.
59. Kruse K, Schutz C. Calcium metabolism in the Jansen type of metaphyseal dysplasia. Eur J Pediatr 1993;152(11):912-5.
60. Silverthorn KG, Houston CS and Duncan BP. Murk Jansen's metaphyseal chondrodysplasia with long-term followup. Pediatr Radiol 1987;17(2):119-23.
61. Charrow J, Poznanski AK. The Jansen type of metaphyseal chondrodysplasia: confirmation of dominant inheritance and review of radiographic manifestations in the newborn and adult. Am J Med Genet 1984;18(2):321-7.
62. Schipani E, Langman CB and Parfitt AM, et al. Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. N Engl J Med 1996;335(10):708-14.
63. Fitch N. Albright's hereditary osteodystrophy: a review. Am J Med Genet 1982;11(1):11-29.
64. Germain-Lee EL, Groman J, Crane JL, Jan de Beur SM and Levine MA. Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. J Clin Endocrinol Metab 2003;88(9):4059-69.
65. Germain-Lee EL. Short stature, obesity, and growth hormone deficiency in pseudohypoparathyroidism type 1a. Pediatr Endocrinol Rev 2006;3 Suppl 2:318-26.
66. Nakamoto JM, Sandstrom AT, Brickman AS, Christenson RA and Van Dop C. Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gsalpha gene mutation. Am J Med Genet 1998;77(4):261-7.
67. Nakamoto JM, Zimmerman D and Jones EA, et al. Concurrent hormone resistance (pseudohypoparathyroidism type Ia) and hormone independence (testotoxicosis) caused by a unique mutation in the G alpha s gene. Biochem Mol Med 1996;58(1):18-24.