Glossary Of Terms Acheiria Peromelia Adactyly Amelia Phocomelia Aplasia Polydactyly Brachy Postaxial Brachymelia Preaxial Brachymesophalangism

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1 Glossary Of Terms Acheiria Congenital amputation of the hand. Adactyly Congenital amputation of all fingers. Amelia Congenital amputation of the upper extremity. Aplasia Complete absence. Brachy Short. Brachymelia Short limb. Brachymesophalangism short middle phalanx. Brachymetacarpia Short metacarpal. Central defect Missing one or more of the three central digits (cleft hand). Clinodactyly Angular deformity of a finger Dicheiria Double hand. Dimelia Double limb. Ectrodactyly Partial or complete amputation of fingers. Ectromelia Partial or complete amputation of limb. Hemimelia Absence of part of a limb such as the forearm. Hyperphalangism Accessory phalanx. Hypoplasia Underdeveloped or partial absence. Macrodactyly Large or hyperplastic digit. Oligodactyly Absence of a few but not all fingers. Perodactyly Deformed finger. Peromelia Congenital amputation of the forearm or hand especially ending in a stump. Phocomelia Intercalated or segmental loss of a limb. Polydactyly Extra digits. Postaxial Ulnar. Preaxial Radial. Radial deficiency Congenital partial or complete absence of the radius. Symbrachydactyly Short or hypoplastic and fused digits. Syndactyly Fusion of adjacent fingers. Synostosis Bone fusion. Transverse deficiency Terminal deficiency or congenital amputation with loss of a distal part. Can be classified according to anatomic location into phalanx, digit, hand, forearm, or arm. Triphalangeal Has three phalanges, for example the triphalangeal thumb. Ulnar deficiency Congenital partial or complete absence of the ulna. Vascular malformations Congenital non-neoplastic proliferation of vessels whether veins, arteries, or lymphatics. G. M. Rayan, J. Upton III, Congenital Hand Anomalies and Associated Syndromes, DOI / , Springer-Verlag Berlin Heidelberg

2 Subject Index 2q31.1 deletion syndrome, XO syndrome, 285 A Aarskog syndrome, 402 Aase syndrome, 330 Aase-Smith syndrome, 330 absence corpus callosum, 419 achondrogenesis, 269 achondroplasia, 82, 186 acral dysostosis, 187 acrocallosal syndrome, 419 acrocephalo-synankie syndrome, 295 acrocephalosyndactyly, 106, 371 type III, 392 type V, 112 acrocephaly, 112 acrodysostosis, 290 acrodysplasia, 290 acrofacial dysostosis, 135 acrosyndactyly, 368 acute myeloid leukemia, 101 Adams-Oliver syndrome, 177 adducted thumb syndrome, 347 aglossia-adactylia syndrome, 181, 183 Al-Awadi/Raas-Rothschild syndrome, 171 Albright hereditary osteodystrophy, 283 Albright pseudohypoparathyroidism syndrome, 283 Albright syndrome, 233 alcohol-related birth defects, 117 alpha-l-iduronidase, 73 amelia, 173 amniotic constriction, 176 bands, 484 amputation, 173 Amsterdam syndrome, 155 amyoplasia, 59 anal anomaly 147 angioosteohypertrophy syndrome, 31 anonychia, 470 anophthalmia, 391 Antley-Bixler syndrome, 110 Apert foot, 375 Apert syndrome, 114, 205, 209, 314, 351, 371 metacarpal synostosis, 293 Apert thumb, 374 aphasia, 347 aplasia, 124 cutis congenita, 177 arachnodactyly, 71, 461 Archibald sign, 279 Arkless-Graham syndrome, 290 arteriovenous fistula, 215 malformation, 215 arthrogrypoid hand, 264 arthrogryposis, 59, 128, 263, 266 distal, 59 multiplex congenita (AMC) 59, 62, 272, 345 type I/II, 63 syndactyly, 68 association X atriodigital dysplasia, 317 atypical cleft hand, 439 autopollicization, 309 B balanced thumb, 335 Baller-Gerold syndrome, 147 Bannayan-Riley-Ruvalcaba syndrome (BRRS) 47, 50 Bannayan-Zonana syndrome, 47 Bardet-Biedl syndrome, 415 basal cell nevus syndrome, 289 Beal syndrome, 71, 267 Bean syndrome, 35 Bell s brachydactyly E, 279 bird-headed dwarfism, 101 birth defects, alcohol-related, 117 birthmark, 53 bizarre parosteal osteochondromatous proliferation (BPOP) 12 blepharophimosis, 79, 468 blue rubber bleb nevus syndrome, 35 Bockenheimer syndrome, 41 Bonnevie-Ullrich syndrome, 285 Brachmann-de Lange syndrome, 155 brachydactyly, 26, 71, 115, 209, 351, 395 Bell classification, 396 due to absence of distal phalanges, 473 brachymesophalangia, 284, 363, 395, 405 brachymetacarpia, 103, 194, 279, 284, 395 brachymetatarsia, 281 brachyphalangia, 351,

3 494 Subject Index Brenham sign, 53 brittle bone disease, 85 broad thumb-hallux syndrome, 314 C camptodactyly, 59, 64, 66, 121, 257, 258, 272, 409, 451, 452 capillary malformation, 53 capitellar dysplasia, 95 cardiac-limb syndrome, 317 cardio-cutaneous syndrome, 91 cardiomyopathy, 74 carpal coalition, 205, 206 synostosis, 205, 206 carpal tunnel syndrome, 17, 73, 225, 236 Carpenter syndrome, 209 carpotarsal epiphysealis hemimelica, 17 cartilaginous exostoses, 13 Catel-Hempel syndrome, 79 Catel-Manzke syndrome, 362 Cenani-Lenz syndactyly, 387 central deficiencies, 247 polydactyly, 382 synpolydactyly, 382 cerebral gigantism, 244 chiasm of Camper, 74 CHN1 gene, 141 chondrodysplasia, 180 punctata, 189 chondrodystrophia calcificans punctata, 189 chondrodystrophic myotonia, 79 chondroectodermal dysplasia, 413 chondromalacia, 38 chondromatosis, 231 chondrosarcoma, 7 Chotzen syndrome, 392 chromosome 5q35 deletion syndrome, 244 8q24.1 deletion syndrome, 15 15q deletion syndrome, 261 clasped thumb, 265, 343, 347, 452 classification of hand differences XI cleft feet, 252 cleft hand, 247 classification, 248 V-shaped, 249 cleft lip and palate, 313, 389 clinodactyly, 15, 101, 114, 325, 351, 353, 395 closing wedge osteotomy, 133 CLOVES syndrome, 38, 220, 243 clubbed hand, 123 coalition, 205 Cobb syndrome, 53 COL1A1/2 gene, 85 Cole-Rauschkolb-Toomey syndrome, 474 Cole s syndrome, 474 congenital amputation, 173 clasped thumb, 343 corneal opacity, 365 hand anomalies classification XI epidemiology XII heart defect, 140 joint contractures, 59 joint laxity/instability, 81 lipomatous overgrowth, 38 middle finger in palm, 427 nail dysplasia, 469 osseous-torticollis syndrome, 99 retraction syndrome, 141 scleroderma, 490 skin dysplasia, 477 ulnar drift (windblown hand) 263, 264 connective tissue nevus, 231 contractural arachnodactyly syndrome, 71 Cornelia de Lange syndrome, 154, 155 costovertebral segmentation defect with mesomelia, 187 COVESDEM syndrome, 187 Cow s milk allergy, 126 Cowden syndrome, 47, 49 cranio-oro-digital syndrome, 313, 436 craniocarpotarsal dysplasia, 430 dystrophy, 263, 430 craniofacial microsomia, 183 craniofacial-skeletal-dermatologic dysplasia, 112 craniosynostosis, 110, 112 with arachnodactyly and abnormal hernias, 466 craniosynostosis-radial aplasia syndrome, 147 Crouzon syndrome, 351, 374, 397 Crowe s sign, 21, 23 crumpled ear, 71 cryptophthalmos syndrome, 391 Cushing symphalangism syndrome, 300 cutis aplasia, 177 hyper-elastica, 83 marmorata telangiectasia congenita, 177 D Dandy-Walker malformation, 419 de Lange syndrome, 155 deafness symphalangism syndrome of Herrmann, 295 Diamond-Blackfan syndrome, 330 diaphyseal aclasis, 13 diastrophic dwarfism, 311 digito-reno-cerebral syndrome, 473 digito-talar dysmorphism, 270 distal arthrogryposis type 1 66 type 2 A, 430 type type 9 71 distal congenital contractures, 66 dolichostenomelia, 71, 463 DOOR syndrome, 473 Down syndrome, 26, 88, 351 Du Pan syndrome, 404 Duane syndrome, 141 duplication 3q syndrome, 364 8q syndrome, 458 Dupuytren s disease, 70, 71 dwarfism, 101, 185, 186, 190 diastrophic, 311 rhizomelic, 186 Robinow, 187 Dyggve-Melchior-Clausen syndrome, 59

4 Subject Index 495 dyschondroplasia, 5, 7 dyschondrosteosis, 191, 195 dyskeratosis congenita, 474 dysmegakaryocytosis, 127 dysmorphism, 261 dysostosis, postaxial acrofacial, 164 dysplasia, 105 atriodigital, 317 epiphysealis hemimelica, 17 oculoauriculovertebral, 144 radial, 141 diastrophic, 311 dystrophia brevicollis congenita, 99 E ear abnormality, 135 ectrodactyly, 155, 181, 247, 254, 395, 450 ectrodactyly-ectodermal dysplasia-clefting syndrome, see EEC syndrome EEC syndrome, 254 Ehlers-Danlos syndrome, 83 Ehrenfried disease, 11, 13 Ekman-Lobstein disease, 85 Elattoproteus syndrome, 228 elbow synostosis, 105 Elephant Man, 228 Ellis-van Creveld syndrome, 413 enchondroma intracranial, 5 multiple, 4 solitary, 3 enchondromatosis, 4, 5 Engman s syndrome, 474 Enron syndrome, 473 epidermal nevus syndrome, 38, 366 epidermolysis bullosa, 478 eponym X equinovarus deformities, 433 Erlenmeyer flask deformity, 11 erythrokeratodermia, 482 Escobar syndrome, 272, 389 EVC syndrome, 413 exostosis, 11 multiple, 14 extensive venous malformation, 41 external chondromatosis syndrome, 13 eye movement disorder, 141 F facial dysmorphism, 322 facial-limb disruptive spectrum, 183 facio-digito-genital syndrome, 402 facio-genital dysplasia, 402 facio-palato-osseous syndrome, 436 facioaudiodysphalangism syndrome, 295 facioauriculovertibral sequence, 139 faciogenitopopliteal syndrome, 389 Fairbank disease, 17 familial de Lange syndrome, 364 glomangiomatosis, 44 Fanconi anemia, 121, 127, 321 Fanconi pancytopenia, 321 Feingold syndrome, 405 female pseudo-turner syndrome, 26 femur-fibula-ulna syndrome, 159 fenestrated syndactylism, 487 fetal alcohol syndrome, 117 face syndrome, 187 FGFR3-associated coronal synostosis syndrome, 209 fibroblast growth factor receptor 1 (FGFR1) gene, 112 fibromatosis multiple, 26 fibrosis, 242 fibrous substrata, 66, 451 fibular aplasia complex brachydactyly, 404 five-fingered hand, 421 Flatt s list, 220 floating thumb, 307 focal dermal hypoplasia, 256 Fong disease, 471 forefoot hypoplasia, 377 Fraser syndrome, 391 Fraser-François syndrome, 391 freckles, 47 Freeman-Sheldon syndrome, 59, 66, 264, 270, 345, 427, 430 Furlong syndrome, 467 G Gene-Wiedemann syndrome, 164 genuine diffuse phlebectasia, 41 gigantism, 230, 237, 244 glomangioma, 44 Glomulin gene, 44 glomuvenous malformation syndrome, 44 glossopalatine ankylosis syndrome, 183 glossoptosis, 362 glycosaminoglycan, 73 Goldenhar syndrome, 139, 332 with ipsilateral radial defect, 144 Goltz syndrome, 397 Goltz-Gorlin (focal dermal) syndrome, 256 gonadal dysgenesis, 285 Gorlin-Goltz syndrome, 289 Gorlin-Psaume syndrome, 400 Grebe syndrome, 180 Greig syndrome, 419 H hallux duplication postaxial polydactyly, 419 hamartoma, 215 hand anatomy IX embryonic hand development IX tumors, 7 hand-foot-uterus syndrome, 324 Hanhart syndrome, 181 Harper s syndrome, 101 heart-hand syndrome, 317 Hecht syndrome, 456 hemangioma, 29, 31, 47 HEMI-3 syndrome, 222 hemifacial microsomia with ipsilateral radial defect, 144 with radial defect, 144 hemihyperplasia, 222 hemihypertrophy, 17, 39, 220, 222

5 496 Subject Index hemimelia, 173 hemivertebrae, 139 hereditary absence of the proximal interphalangeal joints, 300 hereditary ulnar drift, 270 hidden disease, 26 Hirschsprung disease, 274 hitchhiker thumb, 114, 311 Holt-Oram syndrome, 106, 109, 121, 130, 317 homeobox D13 gene (HOXD13) 130 homozygous dyschondrosteosis, 190 Hoyeraal-Hreidarsson syndrome, 474 Hunter syndrome, 73 Hurler syndrome, 73 Hurler-Scheie syndrome, 73 hydrometrocolpos postaxial polydactyly, 418 hyperextensibility, 83 hypermobility, 81 hyperostosis, 220, 231 hyperphalangia, 363 hypertelorism, 115, 290 hypoglossia-hypodactylia syndrome, 181, 183 hypogonadism, 415 hypohidrosis, 254 hypomelia-hypotrichosis-facial hemangioma syndrome, 170 hypopituitarism, 411 hypoplasia, 139, 345 hypothalamic hamartoblastoma, 411 I ichthyosis, 482 iliac horn syndrome, 471 imperforate anus, 411 index finger clinodactyly, 362 iris Brushfield spots, 89 hamartomata, 24 isolated congenital nail dysplasia, 469 J Jackson-Weiss syndrome, 209 Jadassohn nevus phakomatosis, 366 joint ankylosis, 59 contracture, 59 hypermobility, 81, 91 laxity/instability, 81 stiffness, 60 Juberg-Hayward syndrome, 313 K Kaufman-McKusick syndrome, 418 keratodermia, 482 KID syndrome, 482 Kirner deformity, 155, 356, 357, 395 Klein-Waardenburg syndrome, 274 Klippel-Feil sequence, 99 Klippel-Feil syndrome, 295 Klippel-Trenaunay syndrome, 31, 53, 215 knuckle sign, 280 Krause-Kivlin syndrome, 365 kyphoscoliosis, 24 kyphosis, 24 L lacrimo-auriculo-dento-digital syndrome, 334 Langer mesomelic dysplasia, 190 Langer-Giedion syndrome, 15 Larsen syndrome, 103 Laurence-Biedl syndrome, 415 Laurence-Moon syndrome, 415 Laurin-Sandrow syndrome, 197, 202 lentiginosis, 91 profuse Moynahan syndrome, 91 LEOPARD syndrome, 91 Leri-Weill dyschondrosteosis, 191 Leri-Weill syndrome, 185, 195 Levy-Hollister syndrome, 334 limb/pelvis hypoplasia/aplasia syndrome, 171 linear sebaceous nevus syndrome, 366 lipofibromatosis, 220 lipomatosis, 47 lipomatous macrodactyly, 241 overgrowth, 236, 243 Lisch nodules, 23 Loeys-Dietz syndrome, 467 lymphedema, 53 M macrocephaly, 47, 231 macrodactylia simplex congenita, 215 macrodactyly (overgrowth) 31, 38, 215, 236 lipomatous, 241, 236 nerve territory-oriented, 236 macrodystrophia lipomatosa, 236 progressiva, 215 Madelung deformity, 191, 430, 471 Maffucci syndrome, 4, 7, 220 male Turner syndrome, 26 malformation capillary, 53 glomuvenous, 44 vascular, 26 venous, 26 malignant hyperthermia gene, 62 mandibulofacial dysostosis, 135 Marden-Walker syndrome, 468 Marfan syndrome, 267, 458, 463 marfanoid disorder with craniosynostosis Type I, 466 Maroteaux-Lamy syndrome, 73 Maroteaux-Malamut syndrome, 290 MASA Syndrome, 347 McCune-Albright syndrome, 233, 284 McKusick-Kaufman syndrome, 418 Melnick-Needles syndrome, 436 Mende syndrome, 274 mental retardation, 347 meso-ectodermal dysplasia, 413 mesomelia, 185, 187 mesomelia-synostoses syndrome, 188 mesomelic dwarfism, 187 of hypoplastic ulna fibula and mandible, 190 dysplasia with acral synostosis, 188 metacarpal sign, 279 synostosis, 291 K-type, 292

6 Subject Index 497 metacarpophalangeal joint, 307 methotrexate, 164 Meyer-Schwickerath syndrome, 378, 391 Michelin tire baby syndrome, 486 microcephalic primordial dwarfism, 101 microcephaly, 88, 364 microcephaly-oculo-digito-esophago-duodenal syndrome (MODED syndrome) 405 micrognathia, 16, 88, 183 microsomia, 79, 183 microtia, 139 middle finger in palm, 427 Miller syndrome, 164 mirror hand (ulnar dimelia) 197 duplication, 202 mirror-image polydactyly, 202 moccasin foot, 232 Moebius (Möbius) syndrome, 183, 447 Mohr syndrome, 417 Mohr-Majewski syndrome, 417 monodactyly, 174 monosomy X, 285 Morquio syndrome, 73 mucolipidosis, 77 mucopolysaccharidosis (MPS) 73, 82 carpal tunnel syndrome, 73 type I H, 73 Muenke syndrome, 209 Mullerian dysplasia, 324 multiple basal cell carcinoma syndrome, 289 congenital articular rigidities, 62 enchondromas, 4 glomus tumor, 44 hereditary exostoses (MHE) 11, 13 lentigines syndrome, 91 pterygium syndrome, 272 synostosis syndrome, 295, 297 multisynostotic osteodysgenesis, 110 muscle dystrophy, 62 myodystrophia fetalis deformans, 62 myopathy, 345 N Nager syndrome, 106, 108, 135 nail dysplasia, 254, 469 dystrophy, 474 nail-patella syndrome, 471 nanocephalic dwarfism, 101 nerve sheath tumor, 19 nerve territory-oriented macrodactyly (NTOM) 220, 236 neurofibroma, 19 cutaneous, 19 diffuse plexiform, 19 nodular plexiform, 19 subcutaneous, 19 neurofibromatosis, 21, 228, 236 multiple, 21 type 1 23 type 2 23 with Noonan phenotype, 26 neurofibromatous overgrowth, 220 nevoid basal cell carcinoma syndrome, 289 Nievergelt syndrome, 212 Noack syndrome, 112 nonlethal type pterygium syndrome, 272 Noonan syndrome, 22, 26, 91 Noonan-neurofibromatosis syndrome, 26 Nora s lesion, 12 nurse maids elbow, 95 O obstetrician s hand, 373 oculoauriculovertebral dysplasia, 144 spectrum, 139 with radial defect, 144 oculodentodigital syndrome, 378 oculodigitoesophagoduodenal syndrome (ODED syndrome) 405 odontotrichomelic hypohidrotic dysplasia, 254 Okihiro syndrome, 141 oligodactyly, 155 Ollier disease, 4, 5 OMIM, 306 onycho-osteo-dysplasia, 471 onychodysplasia, 469, 471 oral-facial-digital syndrome, 400 type II, 417 organoid nevus phakomatosis, 366 orocraniodigital syndrome, 313 orofaciodigital syndrome II, 417 oromandibular-limb hypogenesis spectrum, 181, 183 Osler-Rendu-Weber disease, 53 osseous-torticollis syndrome, 99 osteoarthritis, 241 osteochondrodysplasia, 59, 185 osteochondroma, 11, 13, 96 epiphyseal, 17 multiple, 11 phalangeal, 11 solitary, 11 osteochondromatosis, 13, 15 osteogenesis imperfecta type I, 85 osteohypertrophic-varicose-nevus syndrome, 31 osteomalacia congenital, 85 osteoporosis, 85 osteopsathyrosis idiopathica, 85 osteosarcoma, 5 oto-palato-digital syndrome, 436 overgrowth, 215 lipomatous, 220, 236 neurofibromatous, 220 with complex vascular anomalies, 38 P Pallister-Hall syndrome, 411 Pallister-ulnar mammary syndrome, 163 palmoplantarkeratoderma, 482 Papillon-Leage syndrome, 400 paramedian mucous cysts of the lower lip, 389 Parkes-Weber syndrome, 53, 215 parrot s beak deformity, 356 partial duplication 3q syndrome, 364 peromelia, 174, 175 with micrognathism, 181, 183 Peters-Plus syndrome, 365 Peters anomaly, 365 Pfeiffer syndrome, 112, 206, 209, 351

7 498 Subject Index phalangeal synostosis (symphalangism) 297 phlebectasia, 41, 42 phleboliths, 42 phocomelia, 105, 165, 170, 317 classification, 166 PHOST syndrome, 50 photophobia, 255 Pierre Robin syndrome, 362 plagiocephaly, 99 Poland sequence, 99 Poland syndrome, 173, 297, 397, 443 pollex abductus anomaly, 307, 422 pollicization, 309 polydactyly, 88, 131, 162, 203, 206, 248, 335, 425 postaxial, 407 radial, 335 ulnar, 337, 407 polyostotic fibrous dysplasia, 233 polysyndactyly, 112 polysynostoses syndrome, 295 popliteal pterygium syndrome, 389 Popliteal web syndrome, 390 postaxial polydactyly, 407, 411 Prader-Willi syndrome, 261 preaxial polydactyly, 335 programmed cell death, 367 progressive cardiomyopathic lentiginosis, 91 Proteus syndrome, 38, 215, 220, 228 proximal femoral focal deficiency (PFFD) syndrome, 159 interphalangeal joint camptodactyly, 249 radioulnar synostosis, 106 symphalangism, 212 Psaume syndrome, 400 pseudo-hurler polydystrophy, 77 pseudo-thalidomide syndrome, 170 pseudoarthrosis, 22, 24, 487 pseudocamptodactyly, 456 pseudoepiphysis, 319, 371 pseudohypoparathyroidism, 283 pseudopapilledema, 47 pseudopseudohypoparathyroidism, 283 pseudosyndactyly, 66 PTEN, 47 hamartoma of soft tissue (PHOST) 50 PTEN-associated vascular anomaly, 47 pterygium, 64 coli syndrome, 26, 272 digital and genital anomalies, 389 universale, 272 Q q31.1 microdeletion syndrome, 376 Quelce-Salgado nonlethal achondrogenesis, 180 R radial aplasia, 121 club hand, 121 deficiency, 121 dysplasia, 105, 130, 141, 306 head dislocation, 95 hypoplasia, 121 polydactyly, 320, 323, 328, 335 classification, 336 radioulnar synostosis, 319 RAPADILINO syndrome, 147 REAR syndrome, 332 renal-ear-anal-radial syndrome, 332 retrognathia, 363 rheumatoid arthritis, 266 rhizomelia, 185 rhizomelic chondrodysplasia punctata, 189 dwarfism, 186 Riley-Smith syndrome, 47 Roberts syndrome, 168, 170 Robinow syndrome, 185, 187 Robinow-Silverman-Smith syndrome, 187 Rothmund-Thomson syndrome, 147 Rubinstein-Taybi syndrome, 314, 351, 356 Russell-Silver syndrome, 359 Ruvalcaba-Myhre-Smith syndrome, 47 S Saethre-Chotzen syndrome, 209, 392 Sallis-Beighton syndrome, 270 Sandrow syndrome, 202 Sanfilippo syndrome, 73 scaphocephaly, 74 Schartz-Jampel syndrome Type Scheie syndrome, 73 Schimmelpenning-Feuerstein-Mims syndrome, 366 Schinzel syndrome, 163, 169 acrocallosal syndrome, 419 phocomelia syndrome, 171 Schwartz-Jampel syndrome, 79 scoliosis, 24, 121 Seckel syndrome, 101 Seckel-type dwarfism, 101 segmental deficiency, 165 Senter-KID syndrome, 482 sequence, definition IX Shawl scrotum syndrome, 402 Shepard s crook deformity, 234 short limb dwarfism, 365 Shprintzen-Goldberg syndrome, 463, 466 shuffling gait, 347 sialidosis, 77 Silver-Russell syndrome, 359 skin hyperelasticity, 84 Sly syndrome, 73 small genitalia syndrome, 187 solitary enchondroma, 3 Sotos syndrome, 47, 244 split hand deformity, 135 spondyloepimetaphyseal dysplasia, 82 Sprengel deformity, 99, 105, 130, 209 Steinberg sign, 462 stiff skin syndrome, 490 Stilling-Turk-Duane syndrome, 141 Stinson s duct, 255 Streeter dysplasia, 484 Sturge-Weber disease, 53 Stuve-Wiedemann syndrome, 79, 348 subclavian artery disruption sequence, 443 symbrachydactyly, 141, 174, 176, 181, 247, 248, 297, 439, 441

8 Subject Index 499 symphalangism, 212, 295, 297, 301, 374, 395, 440 brachydactyly syndrome, 295 synchondrosis, 200 syndactyly, 64, 68, 69, 88, 90, 105, 112, 131, 162, 240, 248, 367, 378 classification, 367 syndrome Aarskog, 402 Adams-Oliver, 177 Al-Awadi/Raas-Rothschild, 171 Albright pseudohypoparathyroidism, 283 Antley-Bixler, 110 Apert, 371 Baller-Gerold, 147 Bannayan-Riley-Ruvalcaba (BRR) 47 Bockenheimer, 41 CLOVES, 38 Cobb, 53 Cornelia de Lange, 154, 155 Cowden 49 definition IX Diamond-Blackfan, 330 Down, 26, 88 Duane, 141 EEC, 254 Ellis-van Creveld, 413 Escobar, 272 Fraser, 391 Freeman-Sheldon, 59, 66 Gene-Wiedemann, 164 Goldenhar, 139 Goltz-Gorlin, 256 Gorlin-Goltz, 289 Grebe, 180 Hanhart, 181 Hecht, 456 Holt-Oram, 106, 109, 121, 317 Hunter, 73 Hurler, 73 Hurler-Scheie, 73 Juberg-Hayward, 313 Klippel-Trenaunay, 31 Larsen, 103 Laurin-Sandrow, 202 LEOPARD, 91 Leri-Weill, 195 Levy-Hollister, 334 Loeys-Dietz, 467 Maffucci, 4, 7 Marden-Walker, 468 Marfan, 463 Maroteaux-Lamy, 73 Maroteaux-Malamut, 290 McCune-Albright, 233 Meyer-Schwickerath, 378 Miller, 164 Moebius (Möbius) 447 Morquio, 73 Muenke, 209 Nager, 106, 108, 135 Nievergelt, 212 Noonan, 26, 91 Pallister-Hall, 411 Peters-Plus, 365 Pfeiffer, 112 PHOST, 50 Pierre Robin, 362 Poland, 443 Prader-Willi, 261 Proteus, 38, 228 PTEN, 47 Roberts, 168, 170 Rubinstein-Taybi, 314 Saethre-Chotzen, 392 Sanfilippo, 73 Scheie, 73 Schninzel, 169 Schwartz-Jampel, 79 Seckel, 101 Shprintzen-Goldberg, 463, 466 Silver-Russell 359 Sly, 73 Sotos, 47, 244 Stuve-Wiedemann, 79, 348 TAR, 126 Townes-Brocks, 332 Treasure-Collin, 164 Turner, 285 Waardenburg, 274 Werner, 341 Zinsser-Engman-Cole, 474 synostosis humeroradial, 154 radiohumeral, 105, 107 radioulnar, 106 ulnohumeral, 106, 1007 synpolydactyly, 291, 292, syndrome, syndrome, 387 with foot anomalies, 382 T TAR syndrome, 126, 130 tarsoepiphysial aclasis, 17 telecanthus, 274 tenosynovitis, 74 teratogenesis, 166 tetralogy of Fallot, 101 tetraphocomelia, 168, 169 thalidomide, 165 embryopathy, 166 thrombocytopenia, 126, 127 absent radius (TAR) syndrome, 121, 126 thromboembolism, 228 thumb brachymetacarpia, 279 deficiency, 305 hypoplasia, 141, 305, 313, 318, 421 polydactyly, 325, 337 radial clinodactyly, 354 triphalangeal, 325, 339 thumb-in-palm deformity, 346 tibial hypoplasia, 425 toe polydactyly, 413 torticollis, 99 Townes-Brocks syndrome, 332 transverse deficiency, 173, 174 trapezoidocephaly-multiple synostosis syndrome, 110 Treacher-Collins-like syndrome, 135 Treasure-Collin syndrome, 164

9 500 Subject Index Trevor disease, 17 tricho-rhino-phalangeal syndrome type II (TRPS II) 15 triphalangeal thumb, 325, 339 triphalangism, 326 trismus pseudocamptodactyly syndrome, 456 trisomy 21 syndrome, 88 trisomy 8 syndrome, 458, 463 Turner phenotype with normal karyotype, 26 Turner syndrome, 22, 285 Turner-Kiser syndrome, 471 U Ullrich-Feichtiger syndrome, 391 ulnar deficiency, 149 classification, 150 dimelia (mirror hand) 197 polydactyly, 407, 411 Rayan-Frey classification, 407 ulnar-mammary syndrome, 163 Ulrich-Turner syndrome, 285 V VACTERL association, 106, 108, 130, 317 Van der Woude syndrome, 389 vascular malformation, 29, 38 venous malformation, 7, 29 with glomus cells, 44 Verloes-David-Pfeiffer-type mesomelic dysplasia, 188 verrucus vulgaris, 408 visceromegaly, 31 Vohwinkel syndrome, 486 von Recklinghausen disease, 23 W Waardenburg syndrome, 274 Waardenburg-Shah syndrome, 274 Warkany syndrome web creep, 380 Weber-Christian disease, 53 Werner syndrome, 341 whistling face syndrome, 264, 430 whistling face-windmill vane hand syndrome, 430 Wiedemann syndrome, 228 Wilms tumor, 222 windblown hand, 263, 368 windswept hand, 264 X X chromosome, 285 Z Zinsser-Engman-Cole syndrome, 474 zone of polarizing activity (ZPA) 197

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