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Textbooks and Monographs Appendix A Textbooks and Monographs Beighton P (1993) McKusick's heritable disorders of connective tissue, 5th edn. CV Mosby, St Louis, MO Beighton P (1988) Inherited disorders of the skeleton, 2nd edn. Churchill Livingstone, Edinburgh Beighton P, Cremin BJ (1980) Sclerosing bone dysplasias. Springer, Berlin Beighton P, Grahame R, Bird H (1999) Hypermobility of joints, 3rd edn. Springer, Berlin Buyse ML (ed) (1990) Birth defects encyclopaedia. Blackwell Scientific, Cam­ bridge, MA Connor JM (1983) Soft tissue ossification. Springer, Berlin Cremin BJ, Beighton P (1978) Bone dysplasias in infancy. A radiological atlas. Springer, Berlin Donnai D, Winter RM (1995) Congenital malformation syndromes. Chapman & Hall, London Gorlin RJ, Cohen MM, Levin LS (1990) Syndromes of the head and neck, 3rd edn. McGraw-Hill, New York Horan F, Beighton P (1982) Orthopaedic problems in inherited skeletal disorders. Springer, Berlin Jones KL (1997) Smith's recognisable patterns of human malformation, 5th edn. WB Saunders, Philadelphia, P A 234 Gamut Index of Skeletal Dysplasias Kaufman JH (ed) (1973) Intrinsic diseases of bone. Progress in Pediatric Radiology, vol 4. Karger, Basel Maroteaux P (1979) Bone diseases of children. Lippincott, Philadelphia, PA McKusick VA (1998) Mendelian inheritance in man, 12th edn. Johns Hopkins Press, Baltimore, MA Mueller RF, Young ID (1998) Emery's elements of medical genetics. Harcourt Brace, London Papadatos CJ, Bartsocas CS (eds) (1982) Skeletal dysplasias. Progress in clinical and biological research, vol 104. Alan R Liss, New York Poznanski AK (1974) The hand in radiologic diagnosis. WB Saunders, Philadelphia, PA Royce PM, Steinmann B (1993) Connective tissue and its heritable disorders. Wiley-Liss, New York Spranger JW, Langer LO, Wiedemann HR (1974) Bone dysplasias. An atlas of constitutional disorders of skeletal development. WB Saunders, Philadelphia, PA Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS (1983) The metabolic basis of inherited diseases, 5th edn. McGraw-Hill, New York Taybi H (1990) Radiology of syndromes, 3rd edn. Year Book Medical Publishers, Chicago,IL Temtamy SA, McKusick VA (1978) The genetics of hand malformations. Birth Defects: Original Article Series, XIV (3) Warkany J (1971) Congenital malformations. Year Book Medical Publishers, Chicago,IL Wiedemann HR, Grosse KR, Dibbern H (1988) An atlas of characteristic syndromes. Wolfe, Stuttgart Wynne-Davies R, Hall CM, Apley AG (1985) Atlas of skeletal dysplasias. Churchill Livingstone, Edinburgh AppendixB International Nomenclature and Classification of the Osteochondrodysplasias (1997) International Working Group on Constitutional Diseases of Bone Pediatr Radiol (1998) 28: 737-744* Preamble In the present, newly revised nomen­ clature, the families of disorders were to some extent rearranged based on The International Working Group on recent etiopathogenetic information Bone Dysplasias met in Los Angeles, concerning the gene and/or protein California on August 5 and 6, 1997, to defect in these disorders. In those perform the third official revision of disorders in which the basic defect the 1972 Paris Nomenclature of Con­ was well documented, they were re­ stitutional Disorders of Bone. In the grouped into distinct families, in which the component disorders were due to last revision (1992), the classification mutations in the same gene. These was reoriented on radiodiagnostic and included the "achondroplasia group" morphologic criteria and grouped mor­ of disorders with mutations in fibro­ phologically similar disorders into blast growth factor receptor 3; the "families" of disorders based on "diastrophic dysplasia" group of dis­ presumed pathogenetic similarities. orders, with mutations in the dia- *Reproduced by permission of Professor Ralph S. Lachman, and Springer-Verlag David L. Rimoin, MD, Ph.D. (Los Angeles) (Chair); Clair A. Francomano, MD (Bethesda); Andres Giedion, MD (Zurich); Christine Hall, MD (London); Ilkka Kaitila, MD (Helsinki); Dan Cohn, Ph.D. (Los Angeles); Robert Gorlin, DDS (Minneapolis); Judith Hall, MD (Vancouver); William Horton, MD (Portland); Deborah Krakow, MD (Los Angeles); Martine Le Merrer, MD (Paris); Ralph Lachman, MD (Los Angeles); Stefan Mundlos, MD (Mainz); Andrew K. Posnanski, MD (Chicago); David Sillence, MD (Sydney); Jiirgen Spranger, MD (Mainz); Matthew Warman, MD (Cleveland); Andrea Superti-Furga, MD (Zurich); and William Wilcox, MD (Los Angeles) 236 Gamut Index of Skeletal Dysplasias strophic dysplasia sulfate transporter fication of bone shape"; "increased gene; the "type II collagenopathies," bone density with diaphyseal involve­ with mutations in type II collagen; and ment", and "increased bone density the "type XI collagenopathies" with with metaphyseal involvement". mutations in cartilage-oligomeric References for most of the skeletal matrix protein (COMP). Several new dysplasias can be obtained through a groups of disorders were added, in­ text such as the third chapter of the cluding the "lethal skeletal dysplasia" TaybilLachman book The Radiology of group with fragmented bones and the Syndromes, Metabolic Disorders and "miscellaneous neonatal severe dyspla­ Skeletal Dysplasias, 4th Edition, or sia" group. Other families were re­ through on-line access of the Mende­ named, such as the "osteodysplastic lian Inheritance in Man (OMIM) on the slender bone group". Because of the Internet directly or by accessing the large number of dysplasias with in­ International Skeletal Dysplasia Web creased bone density, this group was Site (http://www.csmc.edulgenetics! subdivided into three new families: skeledysl) where each disorder is "increased bone density without modi- hyperlinked to OMIM. The authors have attempted to estimate the relative frequency of these conditions in terms of their own experience and a review of the literature: **** : 1000+ cases *** : 100-1000 cases ** : 20-100 cases * : Less than 20 cases In the updated 1997 International Classification, some conditions have been sub­ categorised by virtue of genetic heterogeneity. It has not always been possible to estimate the relative frequencies of the individual members of these sub-groups. Abbreviations: AD = Autosomal dominant; AR = Autosomal recessive; XLD = X-linked dominant; XLR = X-linked recessive; Sp = Sporadic; OMIM = Mendelian Inheritance in Man (McKusick's catalogue online) International Classification of the Osteochondrodysplasias 237 International Classification of Osteochondrodysplasias Present Osteochondrodysplasias Inheritance OMIM at birth Frequency 1. Achondroplasia group Thanatophoric dysplasia, type I AD 187600 + *** Thanatophoric dysplasia, type II AD 187610 + ** Achondroplasia AD 100800 + **** Hypochondroplasia AD 146000 *** Other FGFR3 disorders 2. Spondylodysplastic and other perina tally lethal groups Lethal platyspondylic skeletal dysplasias (San Diego type, Torrance type, Luton 270230 + ** type) SP 151210 + Achondrogenesis type lA AR 200600 + ** 3. Metatropic dysplasia group Fibrochondrogenesis AR 228520 + * Schneckenbecken dysplasia AR 269250 + * Metatropic dysplasia (various forms) AD 156520 + ** 4. Short-rib dysplasia (SRP) (with or without polydactyly) group SRP type I, Saldino-Noonan AR 263530 + ** SRP type II, Majewski AR 263520 + * SRP type III, Verma-Naumoff AR 263510 + * SRP type IV, Beemer-Langer AR 269860 + * Asphyxiating thoracic dysplasia AR 208500 + ** (Jeune) Chondroectodermal dysplasia AR 225500 + *** (Ellis-van Creveld dysplasia) 5. Atelosteogenesis-omodysplasia group Atelosteogenesis type I (includes SP 108720 + * "boomerang dysplasia") Omodysplasia I (Maroteaux) AD 164745 + * Omodysplasia II (Borochowitz) AR 258315 + * Otopalatodigital syndrome type II XLR 304120 + * Atelosteogenesis type III SP 108721 + * de la Chapelle dysplasia AR 256050 + * 6. Diastrophic dysplasia group Diastrophic dysplasia AR 222600 + *** Achondrogenesis IB AR 600972 + * Atelosteogenesis type II AR 256050 + * 238 Gamut Index of Skeletal Dysplasias Present Osteochondrodysplasias Inheritance OMIM at birth Frequency 7. Dyssegmental dysplasia group Dyssegmental dysplasia AR 224410 + * (Silverman-Handmaker type) Dyssegmental dysplasia AR 224400 + * (Rolland-Desbuquois type) 8. Type II collagenopathies Achondrogenesis II (Langer-Saldino) AD 200610 + ** Hypochondrogenesis AD 200610 + * Kniest dysplasia AD 156550 + ** Spondyloepiphyseal dysplasia (SED) AD 183900 + ** congenita Spondyloepimetaphyseal dysplasia AD 184250 + * (SEMD) Strudwick type SED with brachydactyly AD * Mild SED with premature onset AD ** arthrosis Stickler dysplasia (heterogeneous, AD 108300 + ** some not linked to COL2A!) 9. Type XI collagenopathies Stickler dysplasia (heterogeneous) AD 184840 + ** Osteospondylomegaepiphyseal AR 215150 + * dysplasia (OSMED) 10. Other spondyloepi(meta)physeal [SE(M)D] dysplasias X-linked spondyloepiphyseal XLD 313400 ** dysplasia tarda Other late-onset spondyloepi(meta) AR 271650 """ physeal dysplasias (Irapa) (Namaqualand) Progressive pseudo rheumatoid AR 208230 "" dysplasia Dyggve-Melchior-Clausen dysplasia AR 223800 + "" Wolcott - Rallison dysplasia AR 226980 " Immuno-osseous dysplasia-Schimke AR 242900 + " Opsismodysplasia AR 258480 + " Chondrodystrophic myotonia AR 258480 + "" (Schwartz Jampe!), type 1, type 2 AR 255800 + "" Spondyloepiphyseal dysplasia with AR 271640 + "" joint laxity Sponastrime dysplasia AR 271510 " SEMD short limb-abnormal AR 271665 + " calcification type International Classification of the Osteochondrodysplasias 239 Present Osteochondrodysplasias Inheritance OMIM at birth
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