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 . 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 . 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 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 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 -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- dysplasia (SRP) (with or without ) 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 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 Frequency

11. Multiple epiphyseal dysplasias and pseudoachondroplasia Pseudoachondroplasia AD 177170 *** Multiple epiphyseal dysplasia (MED) AD 132400 *** (Fairbanks and Ribbing types) AD 600204 Other MEDs 600969

12. Chondrodysplasia punctata (stippled epiphyses group) Rhizomelic type AR 215100 + ** AR 214100 + ** Conradi-Hiinermann type XLD 302950 + *** X-linked recessive type XLR 302940 + * Brachytelephalangic type XLR 302940 + * Tibial-metacarpal type AD 118651 + * -dependent coagulation AR 277450 + * defect Other acquired and genetic disorders including Warfarin embryopathy

13. Metaphyseal dysplasias Jansen type AD 156400 + * Schmid type AD 156500 ** McKusick type (cartilage-hair AR 250250 + ** hypoplasia Metaphyseal anadysplasia XLR? 309645 * Metaphyseal dysplasia with AR 260400 ** pancreatic insufficiency and cyclic neutropenia. (Schwachman Diamond) Adenosine deaminase deficiency AD 102700 ** Metaphyseal chondrodysplasia- AR 250400 * Spahr type Acroscyphodysplasia (various types) AR 250215 *

14. Spondylometaphyseal dysplasias (SMD) Spondylometaphyseal dysplasia AD 184252 + ** (Kozlowski type) Spondylometaphyseal dysplasia AD 184255 + ** (Sutcliffe type) SMD with severe AD 184253 + * (includes Schmidt and Algerian types) SMD Sedaghatian type AR + * Mild SMD different types 240 Gamut Index of Skeletal Dysplasias

Present Osteochondrodysplasias Inheritance OMIM at birth Frequency

15. Brachyolmia spondylodysplasias Hobaek (includes Toledo type) AR 271530-630 - >I- Maroteaux type AR >I- Autosomal dominant type AD 113500 >I-

16. Mesomelic dysplasias Dyschondrosteosis (Leri-Weill) AD 127300 >1->1- Langer type (homozygous AR 249700 + >I- dyschondrosteosis) Nievergelt type AD 163400 + >I- Kozlowski-Reardon type AR + >I- Reinhardt-Pfeiffer type AD 191400 + >I- Werner type AD + >I- Robinow type, dominant AD 180700 >I- Robinow type, recessive AR 268310 >I- Mesomelic dysplasia with AD 600383 + >I-

17. Acromelic and acromesomelic dysplasias Acromicric dysplasia AD 102370 + >I- Geleophysic dysplasia AR 231050 + >I- Weill-Marchesani dysplasia AR 277600 + >I- Cranioectodermal dysplasia AR 218330 + >I- Trichorhinophalangeal dysplasia AD 190350 + >1->1- type I Trichorhinophalangeal dysplasia AD 150230 + >1->1- type II (Langer-Giedion) Trichorhinophalangeal dysplasia, AD 190351 + type III Grebe dysplasia AR 200700 + >1->1- Hunter-Thompson dysplasia AR 201250 + >I- Brachydactyly type AI-A4 AD 112500-800 + Brachydactyly type B AD 113000 + Brachydactyly type C AD 133100 + AD 113200 + Brachydactyly type E AD 113000 Pseudohypoparathyroidism (Albright >1->1- hereditary osteodystrophy) various types Acrodysostosis SP(AD) 101800 ** Saldino-Mainzer dysplasia AR 266920 * Brachydactyly- AD 112410 + * dysplasia (Bilginturan) International Classification of the Osteochondrodysplasias 241

Present Osteochondrodysplasias Inheritance OMIM at birth Frequency

Craniofacial conodysplasia AD + * Angel-shaped phalango-epiphyseal AD 105835 + * dysplasia (ASPED) Acromesomelic dysplasia AR 201250 + ** Other acromesomelic dysplasias

18. Dysplasias with prominent membranous bone involvement Cleidocranial dysplasia AD 119600 + *** Osteodysplasty, Melnick-Needles XLD 309350 ** Precocious osteodysplasty (ter Haar AR + * dysplasia) Yunis-Varon dysplasia AR 216340 + "

19. Bent-bone dysplasia group Campomelic dysplasia AD 114290 + "" Kyphomelic dysplasia ?AR 211350 + " Stiive-Wiedemann dysplasia AR 601559 + "

20. Multiple dislocations with dysplasias AD 150250 + *" Larsen-like syndromes (including AR 245600 + " La Reunion Island type) Desbuquois dysplasia AR 251450 + * Pseudodiastrophic dysplasia AR 264180 + "

21. multiplex group Mucopolysaccharidosis IH AR 252800 *** Mucopolysaccharidosis IS AR 252800 ** Mucopolysaccharidosis II XLR 309900 *** Mucopolysaccharidosis IlIA AR 252900 *"* Mucopolysaccharidosis I1IB AR 252920 *** Mucopolysaccharidosis I1IC AR 252930 **" Mucopolysaccharidosis I1ID AR 252940 *** Mucopolysaccharidosis IVA AR 230500 ** Mucopolysaccharidosis IVB AR 253010 ** Mucopolysaccharidosis VI AR 253200 ** Mucopolysaccharidosis VII AR 253200 ** Fucosidosis AR 230000 ** a-Mannosidosis AR 248500 ** ,6-Mannosidosis AR 248510 ** Aspartylglucosaminuria AR 208400 ** GM1 Gangliosidosis, several forms AR 230500 + "" Sialidosis, several forms AR 256550 +/- ** Sialic acid storage disease AR 269920 +/- *" Galactosialidosis, several forms AR 256540 ** 242 Gamut Index of Skeletal Dysplasias

Present Osteochondrodysplasias Inheritance OMIM at birth Frequency

Multiple sulfatase deficiency AR 272200 +/- ** Mucolipidosis II AR 252500 + ** Mucolipidosis III AR 252600 **

22. Osteodysplastic slender bone group Type I osteodysplastic dysplasia AR 210710 + ** Type II osteodysplastic dysplasia AR 210720 + ** Microcephalic osteodysplastic dys. AR +

23. Dysplasias with decreased bone density Osteogenesis imperfecta I (without AD 166200 +/- opalescent teeth Osteogenesis imperfecta I (with AD 166240 +/- opalescent teeth AD 166240 +/- Osteogenesis imperfecta II AD 166210 + AR 259400 + *** Osteogenesis imperfecta III AD 259420 + ** AR 259420 + Osteogenesis imperfecta IV AD 166220 + *** (without opalescent teeth) Osteogenesis imperfecta IV AD 166220 + (with opalescent teeth) Cole-Carpenter dysplasia SP 112240 + * Bruck dysplasia AR 259450 + * Singleton-Merten dysplasia AD? 182250 ** Osteopenia with radiolucent lesions AD 166260 * of the mandible Osteoporosis-pseudoglioma dysplasia AR 259770 ** Geroderma osteodysplasticum AR 231070 ** Hyper IGE syndrome with AR 147060 * osteopenia Idiopathic juvenile osteoporosis SP 259750 **

24. Dysplasias with defective mineralization Hypophosphatasia-perinatallethal AR 241500 + ** and infantile forms Hypophosphatasia adult form AD 146300 ** Hypophosphataemic rickets XLD 307800 *** Neonatal hyperparathyroidism AR 239200 + * Transient neonatal AD 145980 + * hyperparathyroidism AD + with hypocalciuric hypercalcemia International Classification of the Osteochondrodysplasias 243

Present Osteochondrodysplasias Inheritance OMIM at birth Frequency

25. Increased bone density without modification of bone shape Osteopetrosis Precocious type AR 259700 + ** Delayed type AD 166600 ** Intermediate type AR 259710 + * with renal tubular acidosis AR 259730 + ** Axial osteosclerosis Osteomesopyknosis AD 166450 * with bamboo hair AR 266500 * Pyknodysostosis AR 265800 + ** Osteosclerosis Stanescu type AD 122900 + * Osteopathia striata Isolated SP with cranial sclerosis AD 166500 ** Sponastrime dysplasia AR 271510 + * Melorheostosis SP 155950 ** Osteopoikilosis AD 166700 ** Mixed sclerosing bone dysplasia SP

26. Increased bone density with diaphyseal involvement Diaphyseal dysplasia Camurati- AD 131300 ** Engelmann Craniodiaphyseal dysplasia ?AR 218300 + * Lenz-Majewski dysplasia SP 151050 + * Endosteal hyperostosis van Buchem type AR 239100 ** Worth type AD 144750 * Sclerosteosis AR 269500 ** with cerebellar hypoplasia AR 213002 + * Kenny-Caffey dysplasia AD,AR 127000 * 244460 Osteoectasia with AR 239000 ** hyperphosphatasia (Juvenile Pagets disease) Diaphyseal dysplasia with AR 231095 * anaemia Diaphyseal medullary stenosis AD 112250 * with bone malignancy (Hardcastle) 244 Gamut Index of Skeletal Dysplasias

Present Osteochondrodysplasias Inheritance OMIM at birth Frequency

27. Increased bone density with metaphyseal involvement Pyle dysplasia AR 265900 ** Craniometaphyseal dysplasia severe type AR 218400 + * mild type AD 123000 ** other types Frontometaphyseal dysplasia XLR 305620 * Dysosteosclerosis AR 224300 * XLR Oculodentoosseous dysplasia AD 164200 + ** AR 257850 + * Trichodentoosseous dysplasia AD 190320 *

28. Neonatal severe osteosclerotic dysplasias Blomstrand dysplasia AR 215045 + * Raine dysplasia 259775 + * Prenatal onset Caffey disease ?AR 114000 + *

29. Lethal chondrodysplasias with fragmented bones Greenberg dysplasia AR 215140 + * Dappled diaphyseal dysplasia AR + * Astley-Kendall dysplasia AR + *

30. Disorganised development of cartilaginous and fibrous components of the skeleton Dysplasia ephysealis hemimelica SP 127800 ** Multiple cartilaginous exostoses AD 133700 *** AD 133701 AD 600209 Enchondromatosis, Ollier SP 166000 ** Enchondromatosis with SP 166000 ** haemangiomata, (Maffucci) Spondyloenchondromatosis AR 271550 * Spondyloenchondromatosis with AR * basal ganglia calcification Dysspondyloenchondromatosis * Metachondromatosis AD 156250 * Osteoglophonic dysplasia AD 166250 + * Genochondromatosis AD 166000 * Carpotarsal osteochondromatosis AD 127820 * Fibrous dysplasia (McCune- SP mosaic 174800 *** Allbright and others) Jaffe-Campanacci SP Fibrodysplasia ossificans progressiva AD 135100 + ** Cherubism AD 118400 ** Cherub ism with gingival AR 135300 ** fibromatosis International Classification of the Osteochondrodysplasias 245

Present Osteochondrodysplasias Inheritance OMIM at birth Frequency

31. Osteolyses Multicentric carpal-tarsal osteolysis AD 166300 ** with and without nephropathy Francois syndrome AR 221800 * Winchester syndrome AR 277950 * Torg syndrome AR 259600 ** Hajdu-Cheney syndrome AD 102500 * Giacci familial neurogenic AR 201300 * acroosteolysis Mandibulo acral syndrome AR 248370 * Familial expansile osteolysis AD 174810 ** Juvenile hyaline fibromatosis AR 228600 + *

32. Patella dysplasias patella dysplasia AD 161200 *** Scypho-patellar dysplasia AD + * Subject Index

Page numbers in bold type are used to indicate major entries in Section 3

Aarskog syndrome (faciogenital dysplasia) 59, Algerian type spondylometaphyseal 82, 127 dysplasia 56, 65, 221, 239 Acetabular abnormalities 54 Alkaptonuria (ochronosis) 45,87-88, 170 Achondrogenesis 2,4,23,47,48,49,51,53,82- Aminopterin embryopathy 31 83, U8, 237 Angel-shaped phalango-epiphyseal dysplasia Type I (Parenti-Fraccaro) 82, 195 (ASPED) 72, 73, 74, 96, 241 Type II (Langer-Saldino Dysplasia) 83, 142, Angio-osteohypertrophy (Klippel-Trenaunay- 150, 238 Weber syndrome) U, 19, 88, 148 Achondrogenesis Brazilian type (see Grebe Anhydrotic ectodermal dysplasia 35 dysplasia) 62, 73, 82, 140 Anisospondyly 39,40,219 Achondroplasia 28,37,38, 39,43,44,47, 53, 54, Ankylosing spondylitis 45, 79 61, 65, 72, 83, 143, 235, 237 Anorectal malformations 41, 77 homozygous achondroplasia 23, 39 Aortic aneurysms 43 Acrocephalopolysyndactyly type II (Carpenter (acrocephalosyndactyly) 27, syndrome) 27, 84, 99 63, 75, 84, 88 Acrocephalosyndactyly (Apert syndrome) 27, Arteriohepatic dysplasia (Alagille 63, 75, 84, 88 syndrome) 13,41,44,49, 87, 88-89 Acrocephalosyndactyly syndromes 27,63,75 5, 21, 66, 70, 75, 89, 133 Acrodysostosis 13, 16, 32, 34, 44, 72, 73, 84, 94, Arthrogryposis multiplex congenita 89, 179 240 Arthro-ophthalmopathy (Stickler Acrodysplasia 74, 85, 138, 206 syndrome) 34, 40, 68, 90, 222, 238 Acromegaly 12 Aspartylglucosaminuria 18,90, 111, 241 Acromelia 61, 72 Asphyxiating thoracic dysplasia (Jeune Acromesomelic dysplasia (mesomelic syndrome) 15, 23, 47, 54, 55, 73, 90-91, dysplasia) 24, 44, 62, 72, 74, 85, 155- 146, 237 159, 240, 241 Astley-Kendall dysplasia 6, 177,244 Acromicric dysplasia 72, 74, 85, 240 Asymmetry (Hemihypertrophy) 18, 19, 20 Acro-osteolysis (osteolysis syndromes) 31, 7l, Atelosteogenesis 23, 42, 91-92, 96, 237 77,78,79,85,140,180-185,197,201,204, Type I (Spondylo-humero-femoral 207 hypoplasia) 91 Acroscyphodysplasia 74 Type II (La Chapelle dysplasia) 41,51,64,66, Adams-Oliver syndrome 73, 85, 123, 213 92, U8, 150 Adenosine deaminase deficiency 69, 86, 239 Adrenal gland neoplasms 20 Baller-Gerold syndrome ( with Adreno-genital syndrome 16 radial defects) 27,63,93, 114-115 Aicardi syndrome 41,44,86-87 Basal cell naevus carcinoma syndrome 42, 93, Alagille syndrome (arteriohepatic dysplasia) 13, 168 41, 44, 49, 87, 88-89 Battered child syndrome 4, 6, 10, 62, 154 Albers-Schonberg disease (osteosclerosis) 6, Beals syndrome 152 187 Beckwith-Weidemann syndrome 16, 19,73,93- Albright hereditary osteodystrophy 94 (pseudohypoparathyroidism) 13, 21, Beemer-Langer syndrome (short rib syndrome 31, 33,44,72, 74, 87, 200-201, 240 type IV) 94, 211, 237 248 Gamut Index of Skeletal Dysplasias

Benign osteosclerosis of infancy Cerebral gigantism () 16,28, (osteosclerosis) 29 100,213 Beta-glucuronidase deficiency 18, 94, 111 Cerebro-costo-mandibular syndrome 47, 49, Binder syndrome (maxillonasal dysplasia) 9, 100-101 73, 94-95, 153 Cerebro-hepato-renal syndrome (Zellweger Bird-headed dwarfism () 47, syndrome) 9, 30, 31, 67, 101, 231 95,209 Cerebro-oculo-facio-ske1etal syndrome (Pena• Blackfan-Diamond syndrome 77 Shokeir) 3, 33, 76, 101-102, 195, 209 Blomstrand chondrodysplasia 9, 24, 188, 192, Cervico-oculo-acoustic syndrome (Wildervanck 244 syndrome) 41, 102, 148, 231 Blount disease 6, 65, 95 CHARGE association 138 Boomerang dysplasia 23, 65, 95-96, 237 Cheirolumbar dysostosis 43,44, 102-103 Brachydactyly syndromes 72, 73, 96-97, 240 Cherubism 14,34, 103, 131,244 Brachydactyly-hypertension dysplasia 96, 240 Child abuse syndrome 4,6, 10,62, 154 Brachyolmia (short spine dysplasia) 39,97,211, Chondrodysplasia punctata 9,18,22,37,41,48, 218,240 61, 67, 94, 101, 239 Brazilian type achondrogenesis (Grebe Conradi-Hiinermann type 23,67, 103-104, dysplasia) 62, 73, 79, 82, 140, 240 112,239 Bruck syndrome (osteogenesis imperfecta with rhizomelic form 23,42,61,67, 104-105,239 congenital contractures) 2,97,176,179, Chondrodystrophy with sensorineural 242 deafness 193 Burton dysplasia 38, 149 Chondroectodermal dysplasia (Ellis-van Creve1d Buschke-Ollendorff syndrome syndrome) 13, 15,24,47, 54, 55, 66, 74, (osteopoikilosis) 9, 59, 97, 190 75, 105, 125, 237 Chromosomal abnormalities 9, 17,27, 30, 31, 41,42,44,47,48,50,64,66,67,73,74,75, Caffey Disease (infantile cortical 76, 106 hyperostosis) 8,9, 10,24,50,60,62,97- Clavicular abnormalities 46, 49-50 98,146,244 Cleft palate 90, 91, 100, 118, 186, 192, 193 Calcification of soft tissues 21-22, 26 Cleidocranial dysplasia 24,28,30,31,50,51,53, bone dysplasias 32 56, 68, 74, 77, 78, 106-107, 241 ectopic calcification 21, 22 Cloverleaf skull (kleeblattschadel infections 32 syndrome) 23, 27, 107, 147, 223 intervertebral discs 36, 44-45 Cockaynesyndrome 3,24,32,43,48,61,70,108 intracranial calcification 26, 33 Coffin-Lowry syndrome 56, 108-109 metabolic disorders 32 Coffin-Siris syndrome 50, 64, 109 Campanacci syndrome (osteofibrous dysplasia of Complex carbohydrate metabolic disorders (MPS the tibia and fibula) 14,65,98,175,244 and MLS) 2, 17, 37, 48, 54, 56, 60, 72, Campomelic dysplasia 23,27,38,40,47,48,51, 78, 109-112 53, 65, 66, 98-99, 107, 150, 241 Cone-shaped epiphyses 68,71, 73-74 Campailla-Martinelli type acromesomelic Congenital clavicular pseudoarthrosis 46, 50 dysplasia 72, 155 Congenital contractures 89, 97, 176, 179 Camurati-Engelmann disease (diaphyseal Congenital generalised fibrous dysplasia 14, 19, dysplasia) 7, 10,29,60, 99, 117-118, 30, 56, 60, 132, 167 243 Conradi-Hiinermann syndrome Carbohydrate-deficient glycoprotein syndrome (chondrodysplasia punctata) 23, 67, type I 112 103-104, 112, 239 Carbonic anhydrase II deficiency type of Copper metabolism abnormalities 3, 5, 6, 21, osteopetrosis 7, 29, 32, 189-190 31,49,69 (acrocephalopolysyndactyly Coronal clefts in vertebral bodies 42, 91, 210, type II) 27, 84, 99 222 Carpo-tarsal acro-osteolysis Francois type 71, Cornelia de Lange syndrome 63,64, 112-113 78, 182, 245 Corner fracture type spondylometaphyseal Cartilage-hair hypoplasia (metaphyseal dysplasia (Sutcliffe) 5, 6, 38, 56, 221 chondrodysplasia McKusick type) 66,69, Corpus callosum agenesis 87 100, 160-161,239 52, 56, 108, 197, 217 Cephaloskeletal dysplasia (Taybi-Linder 52, 56, 134, 161,219,221 syndrome) 24, 42, 100, 222-223 Craniocarpotarsal dystrophy (Freeman-Sheldon Cerebellar hypoplasia with endosteal syndrome) 17, 113, 133, 231 hyperostosis 8, 127 Craniodiaphyseal dysplasia 7, 29, 113, 243 Subject Index 249

Cranioectodermal dysplasia 3, 73, 155, 240 Ecchondromata 13 Craniofacial dysostosis (Crouzon Ectodermal dysplasia 66, 74, 105, 125 syndrome) 64, 113, 115 73, 85, 123, 213 Craniofacial dysostosis with diaphyseal EEC syndrome 73,76,85, 123-124,213 hyperplasia (Stanescu) 113, 191-192, Ehlers-Danlos syndrome 20,22,37, 124, 127 222,243 Ellis-van Creveld syndrome (chondroectodermal Craniometaphyseal dysplasia 7, 29, 31, 48, 61, dysplasia) 13, 15, 24, 47, 54, 55, 66, 74, 114,244 75, 105, 125, 237 Craniopharyngioma 17,33 Encephalo-cranio-cutaneous-lipomatosis 199 Craniostenosis 26,27,88,99, 107, 114, 115, 143, Enchondromatosis (Ollier disease) 5, 14, 18, 19, 177, 180,201 32, 53, 59, 125, 172, 244 Craniosynostoses 27, 63 Enchondromatosis with haemangioma (Maffucci Craniosynostosis with radial defects (Baller- syndrome) 14, 18, 125-126, 152,244 Gerold syndrome) 27,63,93, 114-115 Endosteal hyperostosis 7,29, 126-127,243 Craniotubular dysplasia 7, 26, 29 van Buchem form 7, 29, 34, 60, 69, 126, 228, Craniotubular hyperostoses 7, 26, 29 243 Cretinism 145 Worth form 7,29,69, 126-127, 231, 243 Cri du Chat syndrome 41 with cerebellar hypoplasia 8, 243 (craniofacial dysostosis) 64. Engelmann disease (Camurati-Engelmann; 113 115 diaphyseal dysplasia) 7, 10, 29, 60, 99, Cumming type campomelic dysplasia 51, 98 117-118, 243 Cutis laxa with bone dystrophy 24, ll5, 138 Erdheim-Chester disease 11 Cystic angiomatosis (Gorham-Stout Ewing sarcoma 11 disease) 14, 184, 185 Cysts - spinal, extradural 43, 119 Facial clefts 85, 123, 213 Faciogenital dysplasia (Aarskog syndrome) 59, Dappled diaphyseal dysplasia 6, 49, 244 82, 127 De Barsy syndrome 9,21,24,67, 115-116 Fairbank type multiple epiphyseal Delayed closure of cranial sutures 26, 30 dysplasia 164, 200, 239 Dental abnormalities 26, 34-35 Familial articular hypermobility 20,37,64,127- Dentinogenesis imperfecta 35, 116, 176 128 Dermato-corneal dystrophy (carpo-tarsal Familial expansile osteolysis 3, 184, 245 osteolysis, Francois type) 7l, 78, 182, Familial colonic polyposis (Gardner 245 syndrome) 13, 34, 135 Dermatomyositis 22 Fanconi pancytopenia syndrome/Fanconi Desbuquois syndrome 16,20, 117,241 anaemia 63, 74, 77, 128,202 Diaphyseal aclasis (multiple cartilaginous Femoral dysgenesis syndromes with coxa exostoses) 12, 63, 117, 159, 164 vara 56 Diaphyseal dysplasia (Camurati-Engelmann Femoral facial syndrome (Proximal focal femoral disease) 7, 10,29,60,99, 117-118, 243 dysplasia) 56,62, 128-129, 199 Diastematomyelia 41,44,49 Fibrochondrogenesis 38, 42, 129, 237 Diastrophic dysplasia 15, 21, 22, 23, 37, 38, 43, Fibrochondroplasia 23 44,61, 68, 75, 76, 118-119,200,235,237 Fibrocystic lesions of the mandible 26, 34 Digital abnormalities 7l-79 Fibrodysplasia ossificans progressiva l3, 21, 62, Dislocations 20-21 76, 130, 227, 244 Distal osteosclerosis 119 Fibrous dysplasia syndromes 14, 19, 30, 56, 60, Distichiasis-lymphoedema syndrome 43, 44, l32, 167 119 congenital generalised form Down syndrome 43,47,53,67, 120 (myofibromatosis) 14, 19, 30, 56, 60, Dyggve-Melchior Clausen dysplasia 38,39,43, l32, 167 44, 53, 56, 68, 120-121, 213,238 polyostotic (Jaffe-Lichtenstein) 13, 59, 130- Dyschondrosteosis 13, 62, 63, 121, 157, 240 131, 146, 197, 244 Dysosteosclerosis 7,29,39,60,61,78, 121-122, with pigmentary changes and precocious 244 puberty (McCune-Albright) 10, 13, 16, 131, Dysostosis multiplex congenita 17, 109-112 153,244 Dysplasia epiphysealis hemimelica (Trevor fibrous dysplasia of the jaws (Cherubism) 14, disease) 13, 18, 76, 122 34, 103, 131, 244 Dyssegmental dysplasia 23, 41, 42, 61, 123, 238 Fluorosis 8 Rolland-Desbuquois type l23, 238 Focal dermal hypoplasia (Goltz syndrome) 2, Silverman-Handmaker type 123,238 41, 42, 49, 50, 59, 132, 139 250 Gamut Index of Skeletal Dysplasias

Focal dermal hypoplasia with cranial Hunter-Thompson dysplasia 155,240 sclerosis 186 Hurler syndrome 18,28, 110, 141 Foetalalcoholsyndrome 41,63,67,75,132-133 Hydrocephalus 33 Fractures, multiple 2, 4-6 Hypercalcaemia 8, 27, 32 Francois type aero-osteolysis (dermato-corneal Hypermobility syndromes 20,37,56,64, 127- dystrophy) 71, 78, 182, 245 128 Freeman-Sheldon syndrome (whistling Hyperostosis 1, 6-1 ° syndrome or craniocarpotarsal Hyperparathyroidism 2,4, 12, 14,33,79 dystrophy) 17, 113, 133, 231 familial 141-142 Frontometaphyseal dysplasia 7, 29, 30, 56, 60, neonatal 142, 242 75,134,244 transient neonatal 142, 242 Fucosidosis 18, 112, 134, 241 Hyperphosphatasia (Osteoectasia) 3, 7, 11, 29, Fuhrmann dysplasia 41, 134-135 60, 142, 147, 174-175, 243 Fuhrmann syndrome 65, 134 Hyperthyroidism 4, 16,27 Hypervitaminosis All, 68, 69, 73 Galactosialidoses 112, 135 Hypervitaminosis D 11, 32, 45 Gardner Syndrome (Familial colonic Hypochondrogenesis 23,83, 142-143,238 polyposis) 13, 34, 135 Hypochondroplasia 43, 44, 65, 66, 143, 237 Gaucher disease 15, 38, 55, 136 Hypoparathyroidism 31,33 Geleophysic dysplasia 55, 72, 137, 240 Hypophosphatasia 2,5,21,23,27,30,31,47,51, Geroderma osteodyplastica 3,24,40, 137-138, 143-144, 242 242 Hypophosphataemia (vitamin D-resistant Giedion-Langer syndrome rickets) 2, 5, 30, 44, 49, 65, 68, 69, 144, (trichorhinophalangeal dysplasia) 12, 203-204,228,242 54, 138, 225, 240 Hypopituitarism (pituitary dwarfism) 16, 35, Glycogen storage disease 3, 5, 43 144-145 GMI gangliosidosis 9, 67, 112, 138 Hypoplastic tibia and radius type of mesomelic Goldblatt spondylometaphyseal dysplasia 221 dysplasia 62, 66, 157-158 (oculoauriculo-vertebral Hypothyroidism 16,30,31,35,37,40,54,55,67, dysplasia) 34,41, 138-139, 170 145 Goltz syndrome (focal dermal hypoplasia) 2, 41, 42, 49, 50, 59, 132, 139 I-cell disease of Leroy 5,9, 18, Ill, 145, 152 Goodman syndrome 99 Idiopathic osteolysis (osteolysis syndromes) 71, Gorham osteolysis 3, 140, 184-185 77-79, 145, 180-185 Gorham-Stout disease 14, 184 Iliac horns 13, 53 Gout 45,55 Incontinentia pigmenti 47, 145-146 Grebe dysplasia (Brazilian type Infantile cortical hyperostosis (Caffey achondrogenesis) 62, 73, 79, 82, 140, disease) 8, 9, 10, 24, 50, 60, 62, 97-98, 240 146, 244 Greenberg dysplasia 6, 244 Infantile nutritional copper deficiency Growth hormone deficiency 24 syndrome 11, 31, 49, 69, 154 Irapa type spondylo-epi-metaphyseal Hajdu-Cheney type acro-osteolysis 28,31, 77, dysplasia 216, 238 140, 181, 245 Hallermann-Streiff syndrome (oculomandibulo- Jaffe-Lichtenstein syndrome (fibrous facial syndrome) 24,30,31,48, 140, 171 dysplasia) 13, 59, 130-131, 146, 197, Hand-foot-uterus syndrome 75, 76 244 Handigodu disease 218 Jansen type metaphyseal chondrodysplasia 2, 5, Hemihypertrophy (asymmetry) 18, 19, 20 9, 30, 69, 160, 239 Haemophilia 10, 14 Jeune syndrome (asphyxiating thoracic Hereditary renal-retinal dysplasia (Saldino- dysplasia) 15, 23, 47, 54, 55, 73, 90-91, Mainzer dysplasia) 74, 206 146, 237 Hereditary spherocytosis 39 Juvenile idiopathic osteoporosis 2, 4, 146, 191 dislocation 52, 56 Juvenile Paget disease (osteoectasia with Histiocytosis 11, 14, 40, 50 hyperphosphatasia) 3, 7, 29, 60, 147, Holt-Oram syndrome 63, 75, 76, 77, 140-141 174-175, 243 Homocystinuria 3, 5, 32, 39, 40, 45, 69 Houston -Harris achondrogenesis 82 Kenny-Caffey syndrome (tubular stenosis) 8, Humerospinal dysostosis 42, 64, 141 28, 32, 69, 70, 147, 226-227, 243 Hunter syndrome 18, 109, 110, 141 Keutel syndrome 22, 77, 147 Subject Index 251

Kleeblattschadel syndrome (cloverleaf skull) 23, Maxillonasal dysplasia (Binder syndrome) 9, 27, 107, 147, 223 73, 94-95, 153 Klinefelter syndrome 63, 64, 106, 147 McCune-Albright syndrome (fibrous Klippel-Feil syndrome 41, 42, 45, 102, 148 dysplasia) 10, 13, 16, 131, 153, 244 Klippel-Trenaunay-Weber syndrome (angio- McKusick type metaphyseal osteohypertrophy) 11, 19, 88, 125, 148, chondrodysplasia 66, 100, 160-161,239 199 Melnick-Needles syndrome (osteodysplasty) 7, Kniest dysplasia (metatropic dysplasia type 16,29,30,31,41,43,48,53,56,61,69, II) 24, 37, 40, 42, 61, 68, 74, 149, 163, 153, 174,241 238 Melorheostosis 9, 19, 59, 154, 243 Kosenow-Sinios syndrome (scapulo-iliac Menkes kinky hair syndrome 3,5,6,21,31,49, dysplasia) 51, 53, 149,207 69, 154-155 Kozlowski type spondylometaphyseal Mental retardation 17, 28, 30, 31, 74 dysplasia 38, 56, 221, 239 Mesomelic dysplasia 24, 62, 63, 64, 66, 155-159, Kyphomelic dysplasia 65, 149-150, 241 240 acromesomelic dysplasia 24, 44, 62, 72, 74, La Chapelle dysplasia (atelosteogenesis II) 41, 85, 155-159,240,241 51, 64, 66, 92, 118, 150 hypoplastic tibia and radius type 62,66, 157- Langer type of mesomelic dysplasia 62, 150, 158 156-157 Langer type 62, 150, 156-157,240 Langer-Gidion syndrome (Giedion-Langer Nievergelt type 62, 63, 64, 75, 156, 169, 240 syndrome; trichorhinophalangeal other forms 62, 158 syndrome) 12, 54, 138, 225, 240 Rheinhardt-Pfeiffer type 62, 157, 203, 240 Langer-Saldino dysplasia (achondrogenesis type Robinow type 41,49,62, 156,204,240 II) 83, 142, 150, 238 Synostoses type 158, 240 Langerhans cell tumour 11, 14, 40, 50 Werner type 21,62,66, 76, 79, 158, 230, 240 Larsen syndrome 20,24, 38,41, 74, 75, 117, Mesomelic limb shortening 57, 61, 62, 63 150-151, 241 Metabolic disorders 2,3,4,5, 11, 17,21,22,26, Lenz-Majewski dysplasia 8, 24, 48, 151, 243 30,32,39,40,54,58,59,60,67,68,69,78, Leroy I-cell disease 5,9, 18, 111, 145, 152 109-112 Lethal thoracic dysplasia (Verma- Metacarpal shortening 71, 73 Naumoff) 210-211, 228 Metachondromatosis 12, 125, 159, 244 Ligamentous laxity 20, 43 Metaphyseal anadysplasia 69, 162, 239 Lindau-von Hippel disease 19 Metaphyseal chondrodysplasia 56, 58, 69, 239 Lipid storage disorders 60 Jansen type 2, 5, 9, 30, 69, 160, 239 Lipomatosis 14 McKusick type (cartilage-hair Lobster-claw malformation (split-hand split-foot hypoplasia) 66,69, 100, 160-161, 239 malformation; EEC syndrome) 73, 76, Schmid type 56, 65, 69, 161 85, 123-124, 213 Shwachman type (with pancreatic insufficiency and bone marrow dysfunction) 16, 69, 26, 28 159-160,211,239 Macroepiphyseal dysplasia with other forms 69, 161-162 osteoporosis 68, 193 Metaphyseal dysplasia (Pyle disease) 7, 29, 34, Madelung deformity 57,63 48, 60, 114, 162, 202, 244 Maffucci syndrome (enchondromatosis with Spahr type 69, 161, 239 haemangiomata) 14, 18, 125-126, 152, Metatropic dysplasia 23, 37, 39, 42, 43, 47, 53, 244 61,68, 237 Majewski syndrome (short rib syndrome type Type I 162-163 II) 152, 210, 237 Type II (Kniest dysplasia) 24, 37, 40, 42, 61, Mandibulo-acral dysplasia 3, 24, 34, 183 68, 74, 149, 163, 238 Mandibulofacial dysostosis (Treacher Collins Meyer dysplasia (Perthes disease) 16,54,55,67, syndrome) 34, 64, 152, 224 163, 195-196 Mannosidosis 18, 111, 152,241 Microcephaly 26, 28, 32 152-153 Micrognathic dwarfism (Weissenbacher• Marfanoid habitus 90, 147 Zweyrntiller syndrome) 42, 163, 229- Maroteaux-Lamy syndrome 18, 111, 153 230 Maroteaux type acromesomelic dysplasia 72, Mohr syndrome (oro-facial-digital 155 syndrome) 76, 163, 173 Marshall syndrome 16, 153 Monocentric massive osteolysis (Gorham Mastocytosis 8, 9, 14 osteolysis) 3, 140, 184-185 252 Gamut Index of Skeletal Dysplasias

Morquio syndrome (MPS IV) 18, 38, 39, 43, 65, Nievergelt type of mesomelic dysplasia 62, 63, 110, 163 64, 75, 156, 169, 240 Mseleni joint disease 218 82 Mucolipidosis (MLS) 5,9,43, 111,242 Noonan-like multiple giant cell lesion Mucopolysaccharidoses 2, 17, 18, 33, 38, 43, syndrome 14, 169-170 109-112, 163 Mucoviscidosis 12 Multicentric osteolysis 3, 77, 182-185, 245 Ochronosis (alkaptonuria) 45,87-88, 170 mandibulo-acral dysplasia 3, 24, 34, 183, Oculoauriculo-vertebral dysplasia (Goldenhar 245 syndrome) 34,41, 138-139, 170 Torg type 3, 182,245 Oculodento-osseous dysplasia (oculodento• Winchester type 3, 183 digital dysplasia) 8,29,32,34, 170-171, Multiple cartilaginous exostoses (diaphyseal 244 aclasis) 12, 63, 117, 159, 164 Oculodento digital dysplasia (oculodento• Multiple epiphyseal dysplasia 16,67, 117, 164- osseous dysplasia) 8,29,32,34, 170- 165,239 171,244 Fairbank type 164, 200, 239 Oculomandibulo-facial syndrome (Hallermann• Ribbing type 164, 239 Streiff syndrome) 24, 30, 31, 48, 140, Multiple pterygium syndrome 41, 165, 197 171 Multiple synostoses syndrome 63, 64, 75, 166 Odontoid hypoplasia 20, 36, 43 MURCS association 41, 47, 63, 166-167, 228 OJigosaccharidoses 17, 18, 109 Myelosclerosis 8 Ollier disease (enchondromatosis) 5, 14, 18, 19, Myhre syndrome 40, 48, 167 32, 53, 59, 125, 172, 244 Myofibromatosis (congenital generalised form of Omodysplasia 61,64, 172,237 fibrous dysplasia) 14, 19, 30, 56, 60, Opsismodysplasia 23,38,39,61, 172-173,238 132, 167 Oro-facial-digital syndrome 173 Myositis Ossificans 22 Type I, Papillon-Leage syndrome 173, 195 Myotonic chondrodysplasia (Schwartz Type II, Mohr syndrome 76, 163, 173 syndrome) 40, 167-168, 208 OSMED (oto-spondylo-megaepiphyseal dysplasia) 68, 174, 193-194,238 Naevoid basal cell carcinoma syndrome (basal Osteitis deformans (Paget disease) 8, 10, 175, cell naevus carcinoma syndrome) 42, 184 93, 168 Osteoarthropathy, hypertrophic idiopathic Nager type acrofacial dysostosis 224 (pachydermoperiostosis) 8, 10, 11, 31, Nail-patella syndrome (osteo- 60,78, 194 onychodysplasia) 13, 51, 53, 64, 66, 68, familial 8, 10, 11, 31, 60 168-169, 185, 195 secondary 8, 12 Namaqualand 218 Osteodysplastic (Seckel Nance-Insley syndrome 193 syndrome) 47,95,209 Nance-Sweeney dysplasia 193 Osteodysplasty (Melnick-Needles syndrome) 7, Naumoff syndrome (see Verma-Naumoff 16, 29, 30, 31, 41, 43, 48, 53, 56, 61, 69, syndrome) 210-211, 228, 237 153, 174, 241 Neoplasia 13, 19, 59 Osteoectasia with hyperphosphatasia (juvenile basal cell naevus carcinoma 42, 93, 168 Paget disease) 3,7,29,60,147,174-175, Ewing sarcoma 11 243 leukaemia 59 Osteofibrous dysplasia of the tibia and fibula metastases 9 (Campanacci syndrome) 14,65, 98, multiple myeloma 14 175,244 neuroblastoma 59 Osteogenesis Imperfecta Group of disorders 2, osteosarcoma 11 4,9,14,21,28,31,35,39,40,48,63, 176- Netherton syndrome (osteosclerosis with 179, 242 bamboo hair; trichothiodystrophy) 8, 01 tarda (01-1 several forms) 176-177, 242 192 01 congenita (01 II several forms) 23,49,63, Neural tube defects 28, 41 177-178,242 Neuraminidase deficiency 18 01 type III 178, 242 Neuroblastoma 59 01 type IV 179, 242 Neuroectodermal syndromes 23 01 with congenital contractures (Bruck Neurofibromatosis (von Recklinghausen syndrome) 2,97, 176, 179,242 disease) 10, 14, 19,28,37,38,43,44,48, Osteoglophonic dysplasia 14, 27, 68, 180, 244 59, 60, 65, 169, 228 Osteoid osteoma 11 Subject Index 253

Osteolysis syndromes (acro-osteolysis) 31, 71, distal osteosclerosis 119 77,78,79,85,140,180-185,197,201,204, renal osteosclerosis 8 207 Stanescu type (craniofacial dysostosis with Acro-osteolysis syndromes 31, 71, 77, 78, 79, diaphyseal hyperplasia) 8, 113, 191- 180-181 192, 222, 243 phalangeal acro-osteolysis 71,77, 180-181 Oto-palato-digital syndrome 23, 31, 34, 44, 64, phalangeal osteolysis - Hadju-Cheney 74,75, 134, 192-193 type 28,31,77, 140, 181,245 Oto-spondylo-megaepiphyseal dysplasia 68, carpotarsal acro-osteolysis with and without 193-194 neuropathy 71,181-182,245 Oxalosis 8 carpotarsal osteolysis Francois type 71, 78, 182,245 Pachydermoperiostosis (idiopathic hypertrophic Multicentric or Generalised osteolysis osteoarthropathy) 8, 10, 11, 31, 60, 78, syndromes 3,77, 182-185,245 194 multicentric osteolysis Torg type 3, 182- Paget disease (osteitis deformans) 8, 10, 175, 183,245 184 multicentric osteolysis (mandibulo-acral Papillon-Uage Syndrome (oro-facial-digital dysplasia) 3, 24, 34, 183, 245 syndrome) 173, 195 multicentric osteolysis Winchester type 3, Parastremmatic dysplasia 3, 9, 39, 53, 68, 195 183,245 Parenti-Fraccaro type achondrogenesis familial expansile osteolysis (polyostotic (achondrogenesis type 1) 82, 195 osteolytic dysplasia) 3, 184, 245 Patellar hypoplasia (small patella cystic angiomatosis of bone (Gorham-Stout syndrome) 53, 57, 66, 195 disease) 14, 184 Pattern profile analysis 72 Gorham osteolysis (monostotic massive Pelvis- dysplasia 51, 53, 149, 207 osteolysis) 3, 140, 184-185 Pena-Shokeir syndrome (cerebro-oculo-facio- Osteomegaepiphyseal dysplasia 193 skeletal syndrome) 3,33,76, 101-102, Osteomesopycnosis 8, 14, 185 195,209 Osteomyelitis 4, 10, 50, 68 Periosteal thickening 1, 10-12, 60 Osteo-onychodysplasia (nail-patella Perthes disease (Meyer dysplasia) 16, 54, 55, 67, syndrome) 13,51, 53, 64, 66, 68, 168- 163, 195-196 169, 185, 195 Perthes disease-like changes 52, 54 Osteopathia striata 8, 28, 29, 59, 185-186, 243 Pfeiffer acrocephalosyndactyly 88 Osteopathia striata with cranial sclerosis 8, 28, Phalangeal acro-osteolysis 181 29, 59, 186-187, 243 Hajdu-Cheney type 28, 31, 77, 140, 181, 245 Osteopetrosis 4, 5, 6, 7, 59, 60, 61, 119, 127, (Roberts syndrome) 63, 64, 196, 187-190, 243 204 with delayed manifestations (benign type) 7, Pierre Robin syndrome 34 29, 127, 187-188,243 Pituitary dwarfism (hypopituitarism) 16, 35, with precocious manifestations (malignant or 144-145 infantile type) 7,23, 29, 61, 188-189, Platyspondylic lethal dysplasia 39, 197,215,237 243 Polycystic osteodyplasia with progressive with renal tubular acidosis and carbonic dementia 14, 197 anhydrase II deficiency 7, 29, 32, 189- Polydactyly 71,72,73,99, 105, 140, 157,210- 190,243 211 intermediate type 7, 29, 189, 243 Polyostotic fibrous dysplasia (J affe-Lichenstein Osteopoikilosis (Buschke-Ollendorff syndrome) 13,59, 130-131, 146, 197, syndrome) 9, 59, 97, 190-191,243 244 Osteoporosis 1-4, 5, 39 Polyostotic osteolytic dysplasia (familial idiopathic osteoporosis 39, 40 expansile osteolysis) 3, 184, 245 juvenile idiopathic osteoporosis 2, 4, 146, Popliteal pterygium syndrome (multiple 191,242 pterygium syndrome) 41, 165, 197 Osteoporosis - pseudoglioma syndrome 4, 176, Prader-Willi syndrome 31 191, 242 Premature ageing syndromes 1,24,33, 197,230 Osteoscleroses 7, 29 Primordial dwarfism (Seckel syndrome) 47,95, Albers-Schonberg disease 6, 187 209 benign osteosclerosis of infancy 29 Progeria 24,31, 50, 78, 108, 183, 197-198 central osteosclerosis with bamboo hair Prognathism 34 (trichothiodystrophy or Netherton Progressive pseudorheumatoid dysplasia 39, 68, syndrome) 8, 192,243 198,238 254 Gamut Index of Skeletal Dysplasias

Proteus syndrome 19, 148, 199 Saldino-Mainzer dysplasia (acrodysplasia with Proximal focal femoral dysplasia (femoral facial retinitis pigmentosa and syndrome) 56, 62, 128-129, 199 nephropathy) 74,85,206,240 Pseudoachondroplasia 37,38,39,61,66,68,72, Saldino-Noonan syndrome (short rib syndrome 199-200, 239 type I) 55, 206, 210, 237 Pseudodiastrophic dysplasia 21, 37, 61, 68, 200, Sanfilippo syndrome (MPS III) 18, 1l0, 206 241 Satoyoshi syndrome 14,79,207 Pseudoepiphyses 71, 74 Scapulo-iliac dysplasia (Kosenow-Sinios Pseudogout 45 syndrome) 51,53, 149,207 Pseudo-Hurler polydystrophy 111 Scheie syndrome (MPS I-S) 18, 1l0, 207 Pseudohypoparathyroidism (Albright hereditary Schimke immuno-osseous dysplasia 218, 238 osteodystrophy) 13, 21, 31, 33, 44, 72, Schinzel-Giedion syndrome 48, 53 74,87,200-202,240 Schmid type metaphyseal dysplasia 56, 65, 69, Pseudopolydystrophy (Maroteaux) 18, 111, 153 161 Pseudopseudohypoparathyroidism (Albright Schmidt type spondylometaphyseal hereditary osteodystrophy) 13, 21, 31, dysplasia 65, 221, 239 33, 44, 72, 74, 87, 200-201, 240 Schneckenbecken dysplasia 53,208,237 Pseudothalidomide syndrome (phocomelia) 63, Schwartz syndrome (myotonic 64, 196, 204 chondrodysplasia) 40, 167-168,208, Pseudovitamin-D deficiency rickets 203 238 Pycnodysostosis 4, 5, 7, 28, 29, 30, 31, 34, 50, 69, Schwartz-Lelek syndrome 8 78,201-202 Scleroderma 22, 79 Pyle dysplasia (metaphyseal dysplasia) 7, 29, Sclerosteosis 7, 29, 34, 208-209, 243 34, 48, 60, 114, 162, 202, 244 Sclerotic bone - dentine dysplasia syndrome 8 Scurvy 5, 6, 11, 69 Seckel syndrome (osteodysplastic, primordial or bird-headed dwarfism) 47, 95, 209 Radial aplasia - thrombocytopenia syndrome Serpentine fibula-polycystic (TAR syndrome) 63, 77,202,222 syndrome 66 Radial ray reduction syndromes 63, 64, 76 Shokeir syndrome (Pena-Shokeir syndrome; Radio-ulnar synostosis 57, 62-63 cerebro-oculo-facio-skeletal 9, 10, 24, 188, 244 Raine lethal osteosclerosis syndrome) 3,33, 76, 101-102, 195, 209 20,66,202-203 Short rib-polydactyly syndromes 210-211 Rheinhardt -Pfeiffer type of mesomelic Type I, Saldino-Noonan 55,206,210,237 dysplasia 62, 157, 203, 240 Type II, Majewski 152, 210, 237 Rheumatoid arthritis 45, 75, 79 Type III, Verma-Naumoff (lethal thoracic Rib abnormalities 23,46,47-49, 50, 51, 53, 55, dysplasia) 21O-211, 228, 237 60 Type IV, Beemer-Langer 94, 211, 237 Ribbing type of multiple epiphyseal 211 dysplasia 164, 239 unclassifiable Rickets 5, 11, 30, 49, 68, 69, 203-204 Short spine dysplasia (brachyolmia) 39,97,211, hypophosphataemic rickets (vitamin D• 218,240 resistant) 2,5,30,44,49,65,68,69, 144, Shprintzen-Goldberg syndrome 152 203-204, 228, 242 Shwachman syndrome (metaphyseal renal rickets 2, 3, 5, 30, 49, 68, 69, 203 chondrodysplasia with pancreatic Roberts syndrome (phocomelia) 63, 64, 196, insufficiency and bone marrow 204 dysfunction) 16,69, 159-160,211,239 Robinow type of mesomelic dysplasia 41, 49, Sialidoses 18, Ill, 212 62, 156, 204, 240 Sickle cell haemoglobinopathy 55, 69 Rolland-Desbuquois type of dyssegmental Silver syndrome (see Russell-Silver dysplasia 123, 238 syndrome) 17, 19,28, 30, 73, 205-206, Rothmund-Thomson syndrome 14,21,64,79, 212 204-205 Silverman-Handmaker type of dyssegmental Round femoral inferior epiphyses type of lethal dysplasia 123, 238 chondrodysplasia 193 Singleton-Merten syndrome 3, 21, 22, 60, 78, Rubinstein-Taybi syndrome 17,76,205 212, 242 Russell-Silver syndrome 17, 19,28,30,73,205- Sly syndrome 111 206, 212 Small patella syndrome (patellar hypoplasia) 53, 57, 66, 195 SAD DAN dysplasia 23, 65 Smith-Lemli-Opitz syndrome 9, 67, 212-213 Subject Index 255

Smith-McCort syndrome (Dyggve-Melchior• TAR syndrome (radial aplasia-thrombocytopenia Clausen dysplasia) 38, 39, 43, 44, 53, 56, syndrome) 63, 77, 202, 222 68, 120-121, 213, 238 Taybi-Linder syndrome (cephalo-skeletal Sotos syndrome (cerebral gigantism) 16, 28, dysplasia) 24, 42, 100, 222-223 100,213 Ter Haar dysplasia (osteodysplasty) 174,241 Spinal fusion, congenital 45 Thalassaernia 3, 39, 48, 69 Split-hand split-foot malformation (ectrodactyly; Thalidomide embryopathy 63, 77 EEC syndrome; Adams-Oliver Thanatophoric dysplasia 23, 27, 38, 39, 44, 47, syndrome) 73, 76, 85, 123, 213 51,53, 54, 73, 107,215,223-224,237 Split notochord syndrome 41 Thrombocytopenia - absent radius syndrome Sponastrime dysplasia 9, 213-214, 238, 243 (TAR syndrome) 63,77,202,222 Spondylocarpo-tarsal synostosis syndrome 41, Tibial bowing 57, 65 42 Toledo type spondyloepiphyseal dysplasia 218, Spondylocostal dysostosis (spondylothoracic 240 dysplasia) 24,37,40,41,42,44,47,49, Torg type multicentric osteolysis 3, 182-183, 214-215, 222 245 Spondylodysplasia (platyspondylic lethal Toxopachyosteose diaphysaire tibio-peroniere dysplasia) 39, 197, 215, 237 (Weismann-Netter-Stuhl syndrome) 8, Spondyloenchondrodysplasia 224,229 (spondylometaphyseal dysplasia with Treacher Collins syndrome (mandibulofacial enchondromatous changes) 40, 125, dysostosis) 34, 64, 152, 224 216,244 Trevor disease (dysplasia epiphysealis hemimelica) 13, 18, 76, 122 Spondylo-epi-metaphyseal dysplasia 16, 24, 37, Trichodentoosseous syndrome 192,244 39, 40, 43, 55, 56, 65, 66, 67, 69, 72,216- Trichorhinophalangeal dysplasia (Giedion- 217 Langer syndrome) 12, 54, 138, 225, 240 Spondylo-epi-metaphyseal dysplasia with joint Tricho-thiodystrophy 8, 192 laxity 20, 37, 64, 209, 217 TriphaJangeal 71, 76-77 Spondylo-epiphyseal dysplasia 40, 43, 54, 65, Trisomy 8 41, 47, 48, 49, 50, 60, 66, 106 66,218-220 Trisomy 11 50 congenita 24, 37, 39, 55, 56, 67, 219 Trisomy 13 30,42,48, 50, 64, 77, 106 tarda 38, 39, 45, 67, 219-220 Trisomy 18 33, 41, 48, 50, 64, 67, 106 with mellitus (Wolcott-Rallison Trisomy 21 43,47, 53, 67, 120 dysplasia) 39, 220, 231 Tuberculosis II, 32, 54, 60 Spondylo-megaepiphyseal metaphyseal Tuberous sclerosis 8, 9, 12, IS, 19, 225-226 dysplasia 68 Tubular stenosis (Kenny-Caffey syndrome) 8, Spondylometaphyseal dysplasia 16, 39, 40, 49, 28, 32, 69, 70, 147, 226-227, 243 65,97,239 Tumoral calcinosis with with enchondromatous changes hyperphosphataemia 21,227 (spondyloenchondrodysplasia) 40, 125, 13, 17,44,63, 73, 106,227- 216,244 228 Kozlowski type 38, 56, 221, 239 Sutcliffe or corner fracture type 5, 6, 38, 56, Van Buchem disease (endosteal 221,239 hyperostosis) 7,29, 34, 60, 69, 126, 228, Spondylothoracic dysplasia (spondylocostal 243 dysostosis) 24, 37,40,41,42,44,47,49, VATER or VACTERL association (MURCS 214-215, 222 association) 41, 47, 63, 166-167, 228 Stanescu spondyloepiphyseal dysplasia 218 Verma-Naumoff syndrome (short rib syndrome Stanescu syndrome (osteosclerosis) 8,113,191- type III) 210-211, 228, 237 192, 222, 243 Vinyl chloride poisoning 79 Stickler syndrome (arthro-ophthalmopathy) 34, Vitamin D-resistant rickets 40, 68, 90, 222, 238 (hypophosphataemia) 2, 5, 30, 44, 49, Strudwick type spondylo-epi-metaphyseal 65,68,69,144,203-204,228,242 dysplasia 216, 238 Vogt acrocephalosyndactyly 88 Sturge-Weber syndrome 19,222 Von Recklinghausen disease Stuve-Wiedemann syndrome (campomelic (neurofibromatosis) 10, 14, 19, 28, 37, dysplasia) 150 38, 43, 44, 48, 59, 60, 65, 169, 228 Summit syndrome 99 Symphalangism 64, 71 Wagner syndrome 153 71, 72 Warfarin embryopathy 9,67, 104, 239 256 Gamut Index of Skeletal Dysplasias

Weaver syndrome 15,228-229 Wolcott-Rallison dysplasia (spondylo-epiphyseal Weill-Marchesani dysplasia 73, 155,240 dysplasia with diabetes mellitus) 39, Weismann-Netter-Stuhl syndrome 220,231 (toxopachyosteose diaphysaire tibio• Wormian bones 4,26,28,29,30,31,48 peroniere) 8, 224, 229 Worth syndrome (endosteal hyperostosis) 7, Weissenbacher-Zweymiiller syndrome 29,69,126-127,231,243 (micrognathic dwarfism) 42, 163, 229- 230 Xanthomata 182 Werner syndrome 158,230 Werner type ofmesomelic dysplasia 21,62,66, 76, 79, 158, 230, 240 Yunis-Varon form of cleidocranial dysplasia 50, Whistling face syndrome (Freeman-Sheldon 77, 107,241 syndrome) 17, 113, 133, 231 Wiedemann-Rautenstrauch syndrome 24, 197 Zellweger syndrome (cerebro-hepato-renal Wildervanck syndrome (cervico-oculo-acoustic syndrome) 9,30,31,67, 101,231 syndrome) 41, 102, 148, 231 Zweymiiller syndrome (Weissenbacher• Winchester type of multicentric osteolysis 3, Zweymiiller syndrome) 42, 163,229- 183,245 230