Disease-specific standards in congenital syndromes

Hormone Research in Paediatrics

Volumn 45, Issue 2, 1996, Pages 35-41

  Ranke, Michael B ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

Growth standards; KIGS; Selection bias; Syndromes

Indexed keywords

ANTHROPOMETRY; CALCULATION; CHILD; CONFERENCE PAPER; CONGENITAL DISORDER; DATA ANALYSIS; ETHNIC GROUP; GROWTH; GROWTH DISORDER; HUMAN; PATHOLOGY; PATIENT COUNSELING; PRIORITY JOURNAL; STANDARD;

ADOLESCENT; ADULT; AGING; ANTHROPOMETRY; CHILD; CHILD, PRESCHOOL; GENETIC DISEASES, INBORN; GROWTH; HUMANS; REFERENCE VALUES;

EID: 0029941535     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000184845     Document Type: Article

References (46)

1. Beighton P, Giedion A, Gorlin R, Hall J, Hor-lon B, Kozlowski K, Lachman R, Langer LO, Maroteaux P, Poznanski A et al: International classification of osteochonilrodysplasias. International Working Group on Constitutional Diseases of Bone. Am J Med Genet 1992:44: 223-229.
2. Shiang R, Thompson LM, Zliu YZ, Church DM, Fielder TJ, Bocian M, Winokur ST, Was-muth JJ: Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 1994:78:335-342.
3. Rousseau F, Bonaventure J, Legeai-Mallel I, Pelet A, Rozet JM, Maroteaux P, Le Merrcr M, Munnich A: Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature 1994;371:252-254.
4. Niklasson A, Ericson A, Fryer JG, Karlberg J, Lawrence C, Karlberg P: An update of the Swedish reference standards for weight, length and head circumference al birth for given gestational age (1977- 1981). Acta Paediatr Scand 1991:80:756-762.
5. Nchme A-M, Riseborough EJ, Tredwell SJ: Skeletal growth and development of the achon-droplastic dwarf. Clin Orthop 1976:1 16:8-23.
6. Wynne-Davies R. Walsh WK. Gormley J: Achondroplasia and hypochondroplasia. Clinical variation and spinal stenosis. J Bone Joint Surg 1981;63B: 508-515.
7. Horton WA, Rotter JI, Rimoin DL, Scott Cl, Hall JG: Standard growth curves for achondroplasia. J Pediatr 1978:93:435-438.
8. Tanner JM, Whitehouse RH: Growth and Development Records. Hereford. England. Creaseys Ltd, 1975.
9. McKusick VA: Heritable Disorders of Connective Tissue. St Louis. CV Mosby Company. 1972. pp 73-74.
10. Murdoch JL, Walker BA, Hall JG, Abbey H, Smith KK, McKusick VA: Achondroplasia - a genetic and statistical survey. Ann Hum Genet 1970:33:227-244.
11. Tanner JM, Whitehouse RH, Takaishi M: Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children, 1965. Arch Dis Child I966;4I: 454-471.613-635.
12. Kida K. Kaino Y. lto T. Hirai H: Growth hormone treatment in Achondroplasia: expected final height: in Laron Z. et al. (eds): Limb Lengthening for Whom, When and How. Modem Endocrinology and Diabetes. London, Tel Aviv. Freund Publishing. 1995. vol 3, pp 55-60.
13. Suwa S. Tachibana K: Standard growth charts for height and weight of Japanese children from birth to 17 years based on a cross-sectional survey of national data. Clin Pediatr Endocrinol 1993:2:87-97.
14. Scott CI: Medical and social adaptation in dwarfing conditions. New York. Alan Liss. Inc for the National foundation - March of Dimes. 1977. pp 29-43.
15. Hecht JT. Hood OJ. Schwartz RJ. Hennessey JC. Berhardt BA. Horton WA: Obesity in achondroplasia. Am J Med Genet 1988:31: 597-602.
16. Nellhaus G: Head circumference from birth to eighteen years. Practical composite international and interracial graphs. Pediatrics 1968: 41:106-114.
17. Ravenna F: Achondroplasia et chondrohypo-plasie: Contribution clinique. N lconog Sal-pertriere 1913:26:157-184.
18. McKusick VA. Kelly TE. Dorst JP: Observations suggesting allelism of the achondroplasia anti hypochondroplasia genes. J Med Genet 1973:10:11-16.
19. Kelly TE: Probable case of achondroplasia-hypochondroplasia compound. Birth Defects 1974:10:360.
20. Bellas GA, McIntosh I, Smith HA, Aylsworth AS, Kaitila I, Horton WA, Green haw GA, Hecht JT, Francomano GA: A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet 1995:10:357-359.
21. Hall BD. Sprangcr J: Hypochondroplasia: Clinical and radiological aspects in 39 cases. Radiology 1979;133:95-100.
22. Appan S. Laurent S. Chapman M. Hindmarsh PC. Brook CGD: Growth and growth hormone therapy in hypochondroplasia. Acta Paediatr Scand 1990:79:796-803.
23. Rolland-Cachera MF, Sempe M, Guillod-Balaille M, Patois E, Pequignot-Guggcnbuhl F, Fautrad V: Adiposity indices in children. Am J Clin Nutr 1982:36:178-184.
24. Beals RK: Hypochondroplasia. A report of five kindreds. J Bone Joint Surg 1969:51 8:. 728-736
25. Makitic O: Cartilage-hair hypoplasia - epidemiological and genetic aspects of 107 patients. J Med Genet 1992;29:652-655.
26. Mc Kusick VA, Eldridge R, Hostetler JA, Ruangwit U, Egeland JA: Dwarfism in the Airtish II. Cartilage-hair hypoplasia. Bull Johns Hopkins Hosp 1965:116:285-326.
27. Sulisalo T, Sistonen I, Iliisthacka J, Wadelius C, Miikitie ODE, laChapellc A, Kaitila I: Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis. Nat Genet 1993;3:338-341.
28. Miikitie O, Perheentupa J, Kaitila I: Growth in cartilage-hair hypoplasia. Pediatr Res 1992: 31:176-180.
29. Makitic O, Kaitila I: Cartilage-hair hypoplasia - clinical manifestations in I OX Finnish patients. EurJ Pediatr 1993:152:211-217.
30. Gerver WJM: Measurement of the body proportions in children. The Oostcrvoldc study. Dissertation. State University Limburg. 1988.
31. Hastbacka J. de la Chapclle A. Mahtani MM. Clines G. Reeve Daly MP. Daly M. Hamilton BA. Kusumi K. Trivcdi B. Weaver A. Columa A. Lovett M. Buckler A. Kaitila I: The dias-trophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-struc-ture linkage disequilibrium mapping. Cell 1994:78:1073-1087.
32. Horton WA. Hall JG. Scott Cl. Pyeritz RE. Rimoin DL: Growth curves for height for dias-trophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia. Am J Dis Child 1982:136:316-319.
33. Scott SC: Dwarfism. Clinical Symposia. New Jersey. Ciba-Geigy, 1988. vol 40(1).
34. Spranger J. Winterpachl A. Zabel B: The type II collagenopathies: a spectrum of chondrodysplasias. EurJ Pediatr 1994;153:56-65.
35. Hecht J, Nelson LD, Crowder E, Wang Y, Harrison WR, Francomano CA, Prange CK, Lcnnon GG, Deere MD, Law ler J: Mutations in exon 17B of curtilage oligomeric matrix protein (COMP) cause pseudoachondroplasia. Nat Gen 1995;10:325-329.
36. Briggs MD, Hoffman SMG, King LM, Olsen AS, Mohrenweiser H, Leroy JG, Mortier GR, Rimoin DL, Lachman RS, Gaines ES, Cckleniak JA, Knowlton RG, Cohn DH: Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. Nat Genet 1995;10:330-336.
37. Briggs MD, Choi HC, Warman ML, Loughlin JA, Wordsworth P, Sykes BC, Irven CM, Smith M, Wynne-Davis R, Lipson MH, Biesecker LG, Garber AP, Lachman R, Olsen BR, Rimon DL, Cohn DH: Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to region of chromosome I containing a type IX collagen gene. Am J Hum Genet 1994:55:678-684.
38. Tavormina PL, Shiang R, Thompson LM, Zhu YZ, Wilkin DJ, Lachman RS, Wilcox WR, Rimoin DL., Cohl DH, Wasmuth JJ: Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet 1995:9: 321-328.
39. Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S: Mutations in the fibroblast growth factor receptor 2 gene cause Crou-/.on syndrome. Nat Genet 1994:8:98-103.
40. Rutland P, Pulleyn LJ, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter RM, Oldridge M, Slaney SF, Poole MD, Wilkie AOM: Identical mutations in the FGFR2 gene cause both Pfeiffer and C'rouzon syndrome phenotypes. Nat Genet 1995:9:173-176.
41. Tiller GE, Weis MA, Polumbo PA, Gruber HE, Rimoin DL, Cohn DH, Eyre DR: An RNA splicing mutation in the gene for type II collagen (COL2AI) m a family with spondyloepiphyseal dysplasia. Am J Hum Genet 1995:56: 388-395.
42. Tiller GE, Polumbo PA, Weis MA, Bogaert R, Lachman RS, Cohn DH, Rimoin DL, Eyre DR: Dominant mutations in the type II collagen gene. COL2AI, produce spondylocpimeta-physcal dysplasia. Slrudwick type. Nat Genet 1995:11:87-89.
43. Winterpaeht A. Hilbert M. Schwarze U. Mund-los S. Spranger J. Zabel BU: Knicst and Stickler dysplasia phenotypes caused by collagen type II gene. Nat Genet 1993;3:323-326.
44. Vikkula M. Metsaranta M. Ala-Kokko L: Type II collagen mutations in rare and common cartilage diseases. Ann Med 1994:26:107-114.
45. Jacenko O. LuValle P. Olsen BR: Spondylo-melaphyseal dysplasias in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition. Nature 1993:365:56-61.
46. Franco B, Meroni G, Parenti G, Levillcrs J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA, Andria G, Petit C, Ballabio A: A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell 1995:81:15-25.