A
Aarskog syndrome 231, 576
Aase-Smith syndrome, type I 411, 443 Aase-Smith syndrome, type II 443 Abdominal muscles, absence of/urinary tract
abnormality/cryptorchidism (see Prune belly syndrome) Abused child syndrome (see Battered child syndrome) Acetabular angle, small 249
Achondrogenesis 249 Achondroplasia 249
Aminopterin/methotrexate embryopathy 249 Asphyxiating thoracic dysplasia 249 Chondroectodermal dysplasia 249 Chromosome 13 trisomy syndrome 249 Hypothyroidism 249
Kniest dysplasia 249 Metatropic dysplasia 249 Thanatophoric dysplasia 249 Achard syndrome 262, 420 Achondrogenesis 246, 249, 567
Achondrogenesis, type IA 113, 130, 199, 234, 351, 517, 523 Achondrogenesis, type IB 42, 113, 130, 199, 234, 351, 517,
523, 579
Achondrogenesis, type II 42, 113, 130, 199, 234, 249, 567, 581 Achondroplasia 173, 214, 220, 234, 243, 249, 302, 315, 348, 582 Achondroplasia, homozygous 113, 178, 234, 302, 567 Acrocallosal syndrome 12
Acrocephalopolysyndactyly, type II (see Carpenter syndrome)
Acrocephalosyndactyly, type I (see Apert syndrome) Acrocephalosyndactyly, type III
(see Saethre-Chotzen syndrome)
Acrocephalosyndactyly, type V (see Pfeiffer syndrome) Acro-cranio-facial dysostosis 169
Acrodental dysostosis (see Weyers acrodental dysostosis) Acro-dermato-ungual-lacrimal-tooth syndrome
(see ADULT syndrome) Acrodysostosis 373, 375, 423
Acrofacial dysostosis, Nager type 87, 588 Acrofacial dysostosis, postaxial type 384 Acrofacial dysostosis, preaxial type
(see Acrofacial dysostosis, Nager type) Acrofacial dysostosis, Rodriguez type 238 Acro-fronto-facio-nasal dysostosis 81 Acrogeria, Gottron type 49, 145 Acromegaly 98, 173, 502
Acromelic frontonasal dysplasia 323, 461
Acromesomelic dysplasia, Campailla-Martinelli type 305 Acromesomelic dysplasia, Hunter-Thompson type 306, 376 Acromesomelic dysplasia, Maroteaux type 305, 375
Acro-osteolysis 446 Phalangeal type 447
Acro-osteolysis of Schinz 448 Arteriosclerosis obliterans 447 Dermatomyositis 447 Diabetes 447 Electrical injury 447 Frostbite 447 Giaccai type 448
Haim-Munk syndrome 449 Hajdu-Cheney syndrome 447 Hyperparathyroidism 477 Infection 447
Leprosy 447
Neuropathy, congenital sensory/anhidrosis 449 Occupational 447
Osteolysis, distal 448 Psoriatic arthritis 447
Radicular neuropathy, hereditary sensory 449 Raynaud phenomenon 447
Rheumatoid arthritis 447 Scleroderma 447 Thermal injury 447 Trauma 447 Carpo-tarsal type 451
Arthritis, chronic juvenile 453 Dermo-chondro-corneal dystrophy 453 Osteolysis, hereditary multicentric 451 Osteolysis, hereditary multicentric,
with nephropathy 451
Osteolysis, idiopathic, Saudi Arabia type 452 Winchester syndrome 452
Acro-osteolysis, Giaccai type 50, 448 Acro-osteolysis of Schinz 448
Acro-osteolysis/osteoporosis/changes in skull and mandible (see Hajdu-Cheney syndrome)
Acro-renal-mandibular syndrome 388 Adactyly, unilateral 390
ADAM complex (see Limb-body wall complex) Adams-Oliver syndrome 38, 390
Adrenogenital syndrome 545 ADULT syndrome 388 Aglossia-adactyly 392 Agnathia (see Otocephaly)
Agnathia-holopronsencephaly (see Dysgnathia) Aicardi syndrome 8
Aicardi-Goutières syndrome 8, 102 Alagille syndrome 137, 186
Al-Awadi/Raas-Rothschild syndrome 236, 320
Albers-Schönberg disease (see Osteopetrosis, infantile type) Bold type indicates full description of a given syndrome.
Albright hereditary osteodystrophy (see Pseudohypoparathyroidism, type 1A) Alcohol abuse 264, 341, 502
Alexander disease 13 Alkaptonuria 231, 525, 553 Aluminum intoxication 517 Amelia 390
Aminopterin/methotrexate embryopathy 130 Amniotic band sequence 392
Amyloidosis 473, 534 Amyoplasia 476
Analgesia, congenital (see Indifference-to-pain syndrome) Anderson syndrome 130
Anemias 275 Anencephaly 36 Angelman syndrome 591
Angel-shaped phalango-epiphyseal dysplasia 266, 414, 550 Angio-osteohypertrophy syndrome
(see Klippel-Trenaunay-Weber syndrome) Ankle, ball-and-socket deformity 468 Ankylosing spondylitis 193, 231, 250, 481, 553
(see also Spondyloarthropathies, seronegative) Ankylosing spondylitis, juvenile-onset 453 Ankylosis of stapes/hyperopia/syndactyly 438 Anophthalmia 76
Antley-Bixler syndrome 130, 286, 311 Aortic coartation 136
Apert syndrome 26, 98, 193, 402, 438, 466, 593 Aphalangy with hemivertebrae 188
Aplasia cutis congenita 38
Aplasia/hypoplasia of pelvis, femur, fibula and ulna with abnormal digits and nails 236, 325, 385 Arachnodactyly 419
Achard syndrome 420 Contractural, congenital 419 Cutis laxa-marfanoid syndrome 419 Ehlers-Danlos syndromes 419 Homocystinuria 419 Marfan syndrome 419
Marfan-like connective tissue disorder 419 Marfanoid-hypermobility syndrome 420
Marfanoid-mental retardation syndrome, X-linked 419 Stickler syndrome 419
Arnold-Chiari malformation (see Chiari malformation) Arrhinencephaly (see Holoprosencephaly)
Arrhinia/choanal atresia/microphthalmia/cleft palate 84 Arteriohepatic dysplasia (see Alagille syndrome) Arteriosclerosis obliterans 447
Arthritis
Chronic juvenile 193, 453, 481 Of inflammatory bowel disease 453 Septic 481
Arthrogryposis
Multiplex congenita 214, 279, 431, 460, 476, 517 Distal type I 464, 477
Distal type II 192, 477
Arthropathy-camptodactyly syndrome 259, 411 Arthro-ophthalmopathy, hereditary progressive
(see Stickler syndrome)
Articular hypermobility syndrome (see Joint laxity, familial) Aseptic necrosis 339
Acquired 341 Alcohol abuse 341
Collagen vascular disorders 341
Dysbaric disorders 341 Freiberg disease 341 Gaucher’s disease 341 Idiopathic 340 Kienböck disease 341 Köhler disease 341
Legg-Calvè-Perthes disease 341 Lymphoproliferative disorders 341 Meier-Gorlin syndrome 342 Osteochondritis dissecans 340 Panner disease 341
Sickle cell anemia 341 Thiemann disease 341 Trauma 341
Tricho-rhino-phalangeal syndrome, type I 341 Tricho-rhino-phalangeal syndrome, type II 341 Aspartylglycosaminuria 170
ASPED (see Angel-shaped phalangoepiphyseal dysplasia) Asphyxiating thoracic dysplasia 113, 234, 243, 249, 263, 470,
543, 567, 597
Asymmetrical short stature syndrome 193 Asymmetry
Facial 562
Craniofrontonasal syndrome 562 Dubowitz syndrome 562
Hemifacial atrophy, progressive 563 Hemifacial hyperplasia with strabismus 563 Hemihypertrophy, familial 563
Klippel-Feil anomaly 562 Saethre-Chotzen syndrome 562 Stickler syndrome 562 Hemiatrophy 562
Enchondromatosis 562
Exostoses, multiple hereditary 562 Focal dermal hypoplasia syndrome 562 Goldenhar syndrome 562
Hemifacial atrophy, progressive 563 HHHH syndrome 563
Incontinentia pigmenti 562 Silver-Russell syndrome 562
Tricho-rhino-phalangeal syndrome, type II 562 Hemihypertrophy 563
Bannayan-Riley-Ruvalcaba syndrome 564 Complex 563
Encephalocraniocutaneous lipomatosis 563, 565 Enchondromatosis 564
Facial, familial 563
Hemifacial hyperplasia with strabismus 563 Hemimegalencephaly 563
Isolated 563
Klippel-Trenaunay-Weber syndrome 565 McCune-Albright syndrome 563 Proteus syndrome 564
Simple 563
Atelosteogenesis, type I 196, 200, 241, 567, 599
Atelosteogenesis, type II 116, 196, 200, 241, 368, 461, 567, 599 Atelosteogenesis, type III 196, 599
Atlanto-axial instability 226
Chromosome trisomy 21 syndrome 228 Connective tissue diseases 227 Diastrophic dysplasia 227
Dyggve-Melchior-Clausen dysplasia 227 Marfan syndrome 228
Odontoid hypoplasia/aplasia 227
Posttraumatic subluxation 227 Pseudodiastrophic dysplasia 228 Rheumatoid arthritis 227
Spondyloarthropathies, seronegative 227
Spondyloepiphyseal dysplasia with atlanto-axial instability 227
Atriodigital dysplasia (see Holt-Oram syndrome) Auriculo-osteodysplasia 491
B
Baby rattle pelvis dysplasia 570 Baller-Gerold syndrome 28, 381 Banki syndrome 435
Bannayan-Riley-Ruvalcaba syndrome 13, 418, 564 Bannayan-Zonana syndrome
(see Bannayan-Riley-Ruvalcaba syndrome) Bardet-Biedl syndrome 605
Barnes syndrome (see Thoraco-laryngo-pelvic dysplasia) Basal cell nevus syndrome
(see Nevoid basal cell carcinoma syndrome) Basal ganglia calcification, idiopathic (see Fahr disease) Basilar impression 72
Hajdu-Cheney syndrome 73 Isolated, primary 73
Osteogenesis imperfecta, type IV 73 Paget disease 73
Primary 73 Pyknodysostosis 73 Rheumatoid arthritis 73 Battered child syndrome 291, 518
Beals syndrome (see Contractural arachnodactyly, congenital)
Beare-Stevenson cutis gyrata syndrome 27 Beckwith-Wiedemann syndrome 98, 544, 607 Bencze syndrome (see Hemifacial hyperplasia
with strabismus)
Beta-glucuronidase deficiency
(see Mucopolysaccharidosis, type VII) Bilginturan syndrome 375
Binder syndrome (see Maxillonasal dysplasia, Binder type) Bird-headed dwarfism (see Seckel syndrome)
Blau syndrome (see Granulomatous synovitis, familial/uveitis/cranial neuropathies)
Bloch-Sulzberger syndrome (see Incontinentia pigmenti) Blomstrand dysplasia 512, 567
Bloom syndrome 7 Blount disease 314 Bone age
Advanced 542
Adrenogenital syndrome 545 Asphyxiating thoracic dysplasia 543 Beckwith-Wiedemann syndrome 544 Chondroectodermal dysplasia 543 Diastrophic dysplasia 543 Hyperthyroidism, congenital 545 Marshall-Smith syndrome 544 Noonan syndrome 543
Oto-palato-digital syndrome, type II 543 Precocious pseudopuberty 545
Precocious puberty 545
Short rib-polydactyly syndrome, type II 543 Simpson-Golabi-Behmel syndrome 545 Sotos syndrome 543
Weaver syndrome 543
Retarded 548
Angel-shaped phalango-epiphyseal dysplasia 550 GH deficiency 549
Growth deficiency, primary 550 Growth deficiency, secondary 548 Growth delay, constitutional 548 Kowarski syndrome 550 Laron syndrome 550
Mesomelic dwarfism, Langer type 550 Metatropic dysplasia 550
Opsismodysplasia 550 Pallister-Hall syndrome 549 Panhypopituitarism 549
Spondylo-epi-metaphyseal dysplasia with multiple dislocations 550 Spondylo-epi-metaphyseal dysplasias 550 Bone dysplasia/severe platyspondyly/
distinctive peripheral anomalies 180 Bony horns (see Horns)
Bony spurs (see Spurs)
Boomerang dysplasia 196, 200, 241, 246, 289, 567 Bourneville-Pringle syndrome (see Tuberous sclerosis) Bowleg (see Genu varum)
Brachmann-De Lange syndrome (see De Lange syndrome) Brachmann-De Lange-like facies/microcephaly/metatarsus
adductus/developmental delay 462 Brachycephalo-fronto-nasal dysplasia
(see Teebi hypertelorism syndrome) Brachydactyly, combined B and E types 365 Brachydactyly, complex (see Du Pan syndrome) Brachydactyly, Sugarman type 372
Brachydactyly, type A1 368, 433, 438 Brachydactyly, type A2 368, 408 Brachydactyly, type A3 369, 408 Brachydactyly, type A4 370 Brachydactyly, type A5 370 Brachydactyly, type A6 370, 471 Brachydactyly, type B 365, 438 Brachydactyly, type C 404, 408, 415, 439 Brachydactyly, type D 373, 405, 437 Brachydactyly, type E 373
Brachydactyly type E/multiple impacted teeth 375 Brachydactyly/distal symphalangism syndrome 405 Brachymesophalangy II (see Brachydactyly, type A4) Brachymesophalangy V (see Brachydactyly, type A3) Brachyolmia 177, 205, 220
Brittle bone disorder 47, 517 Broad thumbs-hallux syndrome
(see Rubinstein-Taybi syndrome)
Broad thumbs/great toes-characteristic facies-mental retardation (see Rubinstein-Taybi syndrome) Brown tumors (see Hyperparathyroidism) Bruck syndrome 46, 251, 503
Burn-Baraitser syndrome (see Oro-facio-digital syndrome, type IV)
Buschke-Ollerdorff syndrome (see Osteopoikilosis)
C
C syndrome 28, 609
Caffey disease 61, 133, 276, 294, 310 Calcaneal, multiple ossification centers 470
Asphyxiating thoracic dysplasia 470 Brachydactyly, type A6 471 Chondrodysplasia punctata 471
Chondroectodermal dysplasia 470 Duplicate calcaneus 470
Larsen syndrome 471
Short rib-polydactyly syndrome, type I 470 Thanatophoric dysplasia 470
Calcifications, intracranial 100 Aicardi-Goutières syndrome 102 Basal ganglia 101
Cockayne syndrome 101
Cytomegalovirus fetal infection 103 Fahr disease 102
Falx 102
Herpes simplex fetal infection 104 Kearns-Sayre syndrome 102
Klippel-Trenaunay-Weber syndrome 105 Nevoid basal cell carcinoma syndrome 102 Oculo-dento-osseous dysplasia 102 Periventricular 103
Physiological 100
Pseudo-TORCH syndrome 102 Rubella embryopathy 104 Sellar/parasellar region 103 Sturge-Weber syndrome 105 Tentorium 102
Toxoplasmosis fetal infection 103 Tuberous sclerosis 104
Calcifications, of soft tissues (see Soft tissue, calcification) Calcinosis, generalized 552
Calcinosis, tumoral 553 Calcinosis universalis 553
Calcium pyrophosphate dihydrate crystal deposition disease 230, 315, 473, 498, 553
Calvarial doughnut lesions, familial 54 Calvarial hyperostosis, familial 54 CAMFAK syndrome 266
Campomelic dysplasia 116, 126, 175, 212, 213, 285, 315, 461, 567, 611
Camptodactyly 410, 411, 476
Camptodactyly syndrome, Guadalajara type I 411 Camptodactyly syndrome, Guadalajara type II 411 Camptodactyly/arthropathy/pericarditis syndrome
(see Arthropathy-camptodactyly syndrome) Camptodactyly/cervical platyspondyly 411 Camptodactyly/cleft palate/clubfoot 411 Camptodactyly/cleft palate/facial dysmorphism/
hearing loss 411
Camptodactyly/granulomatous polyarthritis, familial (see Granulomatous polyarthritis, familial/camptodactyly) Camptodactyly/muscular hypoplasia/skeletal dysplasia/
abnormal palmar creases 411
Camptodactyly/Prader-Willi habitus/osteopenia (see Prader-Willi habitus/osteopenia/camptodactyly) Camurati-Engelmann disease (see Diaphyseal dysplasia,
progressive) Canavan disease 13
Cantu syndrome (see Hypertrichotic osteochondrodysplasia) Carbonic anhydrase II deficiency (see Osteopetrosis
with renal tubular acidosis)
Cardiac-limb syndrome (see Holt-Oram syndrome) Carpals 429
Decreased carpal angle 431 Dyschondrosteosis 431 Enchondromatosis 431
Exostoses, multiple hereditary 431
Madelung deformity 431
Mucopolysaccharidosis, type I-H 431 Mucopolysaccharidosis, type IV 431 Turner syndrome 431
Increased carpal angle 431
Arthrogryposis multiplex congenita 431 Chromosome trisomy 21 syndrome 431 Diastrophic dysplasia 431
Frontometaphyseal dysplasia 431 Oto-palato-digital syndrome, type I 431 Pfeiffer syndrome 431
Spondyloepiphyseal dysplasia congenita 431 Supernumerary 432
Brachydactyly, type A1 433 Chondroectodermal dysplasia 433 Diastrophic dysplasia 433
Gorlin-Schlorf-Paparella syndrome 432 Hand-foot-uterus syndrome 432 Holt-Oram syndrome 432 Larsen syndrome 432, 433 Os centrale 432
Os triangulare 432
Oto-palato-digital syndrome, type I 432, 433 Ulnofibular duplication/radiotibial aplasia 433 Synostosis (see Synostosis, carpal)
Carpenter syndrome 28, 368, 438, 461, 614 Cartilage-hair hypoplasia syndrome
(see Metaphyseal chondrodysplasia, McKusick type) Casamassima-Morton-Nance syndrome 139 Cat-cry syndrome (see Cri-du-chat syndrome) Cataract/microcephaly/failure-to-thrive/kyphoscoliosis
syndrome (see CAMFAK syndrome) Catel-Manzke syndrome 408 Caudal regression syndrome 207, 461
Cephaloskeletal dysplasia (see Osteodysplastic primordial dwarfism, type I)
Cerebral gigantism (see Sotos syndrome)
Cerebral spongy degeneration (see Canavan disease) Cerebro-costo-mandibular syndrome 93, 114, 143, 616 Cerebro-hepato-renal syndrome (see Zellweger syndrome) Cerebro-oculo-facio-skeletal syndrome 569
Cerebro-osseous-digital syndrome 569 Cervical ribs/Sprengel anomaly/anal atresia/
urethral obstruction 156
Cervico-oculo-acoustic syndrome 127 Char syndrome 405
CHARGE association 84, 618 Cheiroarthropathy 473 Cheirolumbar dysostosis 218 Chiari malformation, type I 69 Chiari malformation, type II 69 Chiari malformation, type III 69 CHILD syndrome 146
Choanal atresia 83
Arrhinia/choanal atresia/microphthalmia/
cleft palate 84 CHARGE association 84 Chromosome 9p- syndrome 84 Hyperostotic dwarfism 84 Kallmann syndrome 84 Methimazole fetopathy 84 Posterior (see CHARGE association)
Radial ray hypoplasia with choanal atresia 84 Treacher-Collins syndrome 84
Chondrocalcinosis (see Calcium pyrophosphate dihydrate crystal deposition disease)
Chondrodysplasia punctata 471, 553
Chondrodysplasia punctata, brachytelephalangic type 365, 415, 625
Chondrodysplasia punctata, Conradi-Hünermann type 196, 213, 330, 619
Chondrodysplasia punctata, rhizomelic type 196, 200, 213, 302, 330, 567, 621
Chondrodysplasia punctata, tibia-metacarpal type 200 Chondrodysplasia punctata, X-linked (see Chondrodysplasia
punctata, brachytelephalangic type) Chondrodystrophia fetalis (see achondroplasia) Chondrodystrophia myotonica (see Schwartz-Jampel
syndrome)
Chondrodystrophic dwarfism (see Achondroplasia) Chondroectodermal dysplasia 86, 114, 234, 243, 249, 263,
306, 335, 423, 433, 470, 543, 627
Chondrolysis of the hip, idiopathic 251, 255 Chromosome 4p- syndrome 127, 630
Chromosome 5p- syndrome (see Cri-du-chat syndrome) Chromosome 9p- syndrome 84
Chromosome 13q- syndrome 397 Chromosome 22q- syndrome 188 Chromosome 4p+ syndrome 127 Chromosome 9p+ syndrome 247
Chromosome aneuploidy X syndromes 98, 310 Chromosome monosomy 21 syndrome 150
Chromosome monosomy X syndrome (see Turner syndrome) Chromosome trisomy 8 syndrome 155
Chromosome trisomy 8 mosaicism syndrome 150 Chromosome trisomy 13 syndrome 127, 397, 632 Chromosome trisomy 18 syndrome 125, 147, 638 Chromosome trisomy 21 syndrome 168, 205, 228, 241, 369,
431, 461, 487, 642
Chronic recurrent multifocal osteomyelitis 151 Clavicles
Hypoplasia 144
Acrogeria, Gottron type 145 CHILD syndrome 146
Chromosome trisomy 18 syndrome 147 Clavicular hypoplasia/zygomatic arch hypoplasia/
micrognathia 147
Cleidocranial dysplasia 145, 648
Cleidocranial dysplasia/parietal foramina 147 Focal dermal hypoplasia syndrome 146 Mandibuloacral dysplasia 48, 50, 94 Melnick-Needles syndrome 146 Posttraumatic osteolysis 145 Progeria 145
Pyknodysostosis 145 Yunis-Varon syndrome 145 Lateral hooks 154
Chromosome trisomy 8 syndrome 155 Diastrophic dysplasia 155
Ear/patella/short stature syndrome 155 Holt-Oram syndrome 155
Multiple pterygium syndrome 155
Thrombocytopenia-absent radius syndrome 155 Slender 148
Gracile bone dysplasia 148 Restrictive dermopathy 149 Wide or thickened 150
Chromosome monosomy 21 syndrome 150
Chromosome trisomy 8 mosaicism syndrome 150 Chronic recurrent multifocal osteomyelitis 151 Condensing osteitis of clavicle 153
Diaphyseal dysplasia, progressive 150 Endosteal hyperostosis, Van Buchem type 150 Fryns syndrome 150
Holt-Oram syndrome 150 Lenz-Majewski syndrome 150 Occipital horn syndrome 150 Oculo-dento-osseous dysplasia 150 Osteosclerosis, distal 150
Clavicular hypoplasia/zygomatic arch hypoplasia/
micrognathia 147
Cleft cranium (see Cranium bifidum)
Cleft hand/tibial hemimelia (see Tibial hemimelia/
split hand-split foot)
Cleft lip, with or without cleft palate 85 Cleft palate, isolated 86
Clefts, facial 85
Acrofacial dysostosis, Nager type 87 Chondroectodermal dysplasia 86 Cleft lip, with or without cleft palate 85 Cleft palate, isolated 86
Frontonasal dysplasia 86 Goldenhar syndrome 87
Oro-facial-digital syndrome, type I 86 Oro-facial-digital syndrome, type II 86 Short rib-polydactyly syndrome, type II 86 Treacher-Collins syndrome 87
Cleidocranial dysostosis (see Cleidocranial dysplasia) Cleidocranial dysplasia 42, 50, 55, 145, 246, 423, 426, 648 Cleidocranial dysplasia/parietal foramina 147 Clinodactyly 405, 407
Brachydactyly, type A2 408 Brachydactyly, type A3 408 Brachydactyly, type C 408 Catel-Manzke syndrome 408 Delta phalanx 408
Electrical injury 408 Kirner’s deformity 409 Macrodactyly 408 Thermal injury 408 Trauma 408 Cloverleaf skull 23
Clubfoot (see Foot, equinovarus deformity)
Cockayne syndrome 55, 101, 174, 231, 278, 299, 427, 428, 517, 654
Coffin-Lowry syndrome 122, 220, 657 Coffin-Siris syndrome 122, 220, 659
COFS syndrome (see Cerebro-oculo-facio-skeletal syndrome) Cohen syndrome 662
Cole-Carpenter dysplasia 503 Collagen vascular disorders 264 Collagen vascular overlap syndromes 553 Coloboma of macula/brachydactyly type B 365 Condensing osteitis of clavicle 153
Cono-renal syndrome (see Mainzer-Saldino syndrome) Conradi-Hünermann disease (see Chondrodysplasia
punctata, Conradi-Hünermann type)
Constricting bands, congenital (see Amniotic band sequence) Contractural arachnodactyly, congenital 278, 419, 477 Copper deficiency, nutritional 350, 523
Cornelia-De Lange syndrome (see De Lange syndrome) Corner fracture (see Growth plate injury)
Cortex of bone Thickening
Battered child syndrome 291 Caffey disease 294
Dactylitis 291
Diaphyseal dysplasia, progressive 294 Endosteal hyperostosis, Van Buchem type 294 Endosteal hyperostosis, Worth type 295 Ewing sarcoma 291
Fluorosis 294 Fracture 291
Gardner syndrome 296 GM1 gangliosidosis, type I 294 Hyperphosphatasemia, hereditary 295 Hypertrophic osteoarthropathy, secondary 292 Hypervitaminosis A 294
Langherans cell histiocytosis 291 Leukemia 291
Lymphoma 291 Melorheostosis 295
Neurofibromatosis, type I 295 Osteoma 296
Osteomyelitis 291 Pachydermoperiostosis 292 Periostitis 291
Prostaglandin-induced periostitis 294 Ribbing disease 294
Rickets 294 Sclerosteosis 295 Scurvy 294
Thyroid acropachy 292
Venous insufficiency, chronic 291 Thinning
Cockayne syndrome 299 Gracile bone dysplasia 299 Hallermann-Streiff syndrome 299 Homocystinuria 299
Hyperparathyroidism 299
Hypophosphatasia, infantile type 299 Osteogenesis imperfecta, type I 299 Osteogenesis imperfecta, type IV 299 Cortical defects/wormian bones/
dentinogenesis imperfecta 47 Costovertebral segmentation anomalies
(see Spondylocostal dysostosis, dominant form) COVESDEM syndrome 139, 305
Cowden disease 418 Coxa valga 260
Achard syndrome 262
Exostoses, multiple hereditary 262 Frontometaphyseal dysplasia 262
Hemifacial hyperplasia with strabismus 262 Hirsutism/skeletal dysplasia/mental retardation
syndrome 261
Hypertrichotic osteochondrodysplasia 261 Mannosidosis 262
Melnick-Needles syndrome 262 Mucolipidoses 262
Mucopolysaccharidoses 262 Neuromuscular disorders 260 Niemann-Pick disease 262 Poliomyelitis 261
Spondyloepiphyseal dysplasia tarda with mental retardation 261
Spondyloepiphyseal dysplasia, Stanescu type 261 Coxa vara 257
Arthropathy-camptodactyly syndrome 259 Coxa vara/patellar aplasia/tarsal synostosis 259 Familial 258
Metaphyseal chondrodysplasia, Schmid type 259 Osteogenesis imperfecta 257
Osteomalacia 257
Osteopetrosis, adult type 259
Progressive pseudorheumatoid arthropathy 259 Rickets 257
Slipped capital femoral epiphysis 257 Spondylometaphyseal dysplasias 258
CPPD crystal deposition disease (see Calcium pyrophosphate dihydrate crystal deposition disease)
Craniocarpotarsal dystrophy (see Freeman-Sheldon syndrome)
Craniodiaphyseal dysplasia 58, 132, 274, 512 Cranioectodermal dysplasia 304
Craniofacial dysostosis (see Crouzon syndrome) Craniofacial dysostosis with diaphyseal hyperplasia
(see Osteosclerosis, Stanescu type) Craniofrontonasal syndrome 28, 80, 562 Craniolacunia 33
Craniometaphyseal dysplasia, dominant type 57, 275, 344, 512, 664
Craniometaphyseal dysplasia, Jackson type (see Craniometaphyseal dysplasia, dominant type) Craniometaphyseal dysplasia, recessive type 57, 98, 275, 344,
512
Craniometaphyseal dysplasia, wormian bone type 13, 50, 55 Cranio-oro-digital syndrome
(see Oto-palato-digital syndrome, type II) Craniopharyngioma 66
Craniosynostosis 19, 325 Apert syndrome 26 Baller-Gerold syndrome 28
Beare-Stevenson cutis gyrata syndrome 27 Boston type 28
Brachycephaly 22 C syndrome 28 Carpenter syndrome 28 Cloverleaf skull 23
Craniofrontonasal syndrome 28 Craniosynostosis, Boston type 28 Crouzon syndrome 26
Isolated, familial 24 Jackson-Weiss syndrome 27 Muenke syndrome 28 Oxycephaly 22 Pfeiffer syndrome 26 Plagiocephaly 22
Saethre-Chotzen syndrome 27 Scaphocephaly 21
SCARF syndrome 28
Shprintzen-Goldberg syndrome 27 Trigonocephaly 23
Craniosynostosis-radial aplasia syndrome (see Baller-Gerold syndrome)
Cranium bifidum 34
Fronto-facio-nasal dysostosis 37 Frontonasal dysplasia 37 Isolated, hereditary 37 Knobloch syndrome 37 Meckel syndrome 37 CREST syndrome 553 Cri-du-chat syndrome 377, 667 Crooked fingers (see Camptodactyly) Crouzon syndrome 26, 76, 98, 193, 672
Cryptodontic metacarpalia (see Brachydactyly type E/
multiple impacted teeth) Currarino triad 207
Currarino-Silverman syndrome 162
Curry-Hall syndrome (see Weyers acrodental dysostosis) Cushing disease 264
Cushing symphalangism (see Symphalangism, proximal) Cutis gyrata syndrome (see Beare-Stevenson cutis gyrata
syndrome)
Cutis laxa-corneal clouding-mental retardation 493 Cutis laxa-marfanoid syndrome 120, 419
Cutis laxa, X-linked (see Occipital horn syndrome) Cystic angiomatosis 528
Cyst-like defects of bone (see Radiolucent bone defects, multiple)
Cysts of bone 518
Cytomegalovirus fetal infection 5, 103
D
Dactylitis 291
Dandy-Walker complex 70
Dappled metaphysis syndrome (see Spondylo-epi- metaphyseal dysplasia, Strudwick type)
De Barsy syndrome (see Cutis laxa-corneal clouding-mental retardation)
De la Chapelle syndrome (see Atelosteogenesis, type II) De Lange syndrome 369, 440, 674
Deferoxamine-induced osteoarthropathy 317 Degenerative spinal disease 218, 230, 553
Del(4p) syndrome (see Chromosome, 4p- syndrome) Del(5p) syndrome (see Cri-du-chat syndrome) Del(9p) syndrome (see Chromosome, 9p- syndrome) Del(22q) syndrome (see Chromosome, 22q- syndrome) Delayed membranous cranial ossification 42 Delta phalanx 408
Dermatomyositis 447, 473, 553 Dermo-chondro-corneal dystrophy 453 Desbuquois syndrome 492
Diabetes 447, 473, 502, 553 Diamond-Blackfan syndrome 443
Diaphyseal aclasis (see Exostoses, multiple hereditary) Diaphyseal dysplasia, progressive 59, 150, 274, 294, 676 Diaphyseal sclerosis, multiple (see Ribbing disease) Diastematomyelia 137, 224
Diastrophic dysplasia 155, 205, 212, 220, 227, 405, 431, 433, 439, 460, 543, 553, 679
Digitotalar dysmorphism 464 Dislocation of hip (see Hip dislocation)
Dislocation of joints (see Joints, subluxation and dislocation) DOOR syndrome 443
Down syndrome (see Chromosome, trisomy 21 syndrome) Dubowitz syndrome 562, 685
Du Pan syndrome 325, 369
Dupuytren contracture 412, 473
Dwarfism with tall vertebrae (see Fuhrmann dysplasia) Dyggve-Melchior-Clausen dysplasia 171, 175, 205, 227, 244,
335, 439, 497
Dysbaric disorders 264, 341
Dyschondroplasia (see Enchondromatosis) Dyschondrosteosis 305, 313, 688
Dysencephalia splanchnocystica (see Meckel syndrome) Dysgnathia complex 94
Dysosteosclerosis 58, 511, 518, 690
Dysostosis epiphysealis multiplex (see Multiple epiphyseal dysplasia)
Dysostosis multiplex (see Mucopolysaccharidoses and mucolipidoses)
Dysplasia epiphysealis hemimelica 337, 523
Dyssegmental dysplasia 187, 196, 235, 242, 244, 288, 345, 567 Dyssegmental dysplasia with glaucoma 187, 345
Dystelephalangy (see Kirner’s deformity)
E
Eagle syndrome 556
Ear/patella/short stature syndrome (see Meier-Gorlin syndrome) Ectodermal dysplasia 692 Ectrodactyly 386
Ectrodactyly/ectodermal dysplasia/cleft lip-palate (see EEC syndrome)
Ectrodactyly/hearing loss 388
Edwards syndrome (see Chromosome, trisomy 18 syndrome) EEC syndrome 388
EEC syndrome without cleft lip-palate 388
Ehlers-Danlos syndromes 173, 175, 211, 251, 270, 309, 419, 475, 485, 553, 694
Ehlers-Danlos syndrome, type I 486 Ehlers-Danlos syndrome, type III 486 Ehlers-Danlos syndrome, type VII 486 Electrical injury 408, 447, 482
Elfin facies syndrome (see Williams syndrome) Ellis-van Creveld syndrome
(see Chondroectodermal dysplasia) Empty sella turcica 67
Empty sella turcica, primary, with generalized dysplasia 50, 173
Encephaloceles 34
Encephalocraniocutaneous lipomatosis 563 Encephalotrigeminal angiomatosis
(see Sturge-Weber syndrome)
Enchondromatosis 359, 431, 518, 530, 562, 564, 696 Endosteal hyperostosis, dominant
(see Endosteal hyperostosis, Worth type) Endosteal hyperostosis, recessive
(see Endosteal hyperostosis, Van Buchem type) Endosteal hyperostosis, Van Buchem type 58, 98, 150, 294 Endosteal hyperostosis, Worth type 59, 98, 295
Engelmann disease (see Diaphyseal dysplasia, progressive) Enostosis 510
Enthesophytes 524
Eosinophilic granuloma (see Langherans cell histiocytosis) Epiphysiolisthesis (see Slipped capital femoral epiphysis) Epiphyseal dysplasia, Fairbank type
(see Multiple epiphyseal dysplasia) Epiphyseal dysplasia, Ribbing type
(see Multiple epiphyseal dysplasia)
Epiphyses
Cone-shaped 422 Acrodysostosis 423
Chondroectodermal dysplasia 423 Cleidocranial dysplasia 423 Mainzer-Saldino syndrome 424 Metaphyseal acroscyphodysplasia 425
Metaphyseal chondrodysplasia, McKusick type 423 Oto-palato-digital syndrome, type I 423
Peripheral dysostosis 424
Pseudopseudohypoparathyroidism 423 Tricho-rhino-phalangeal syndrome, type I 423 Tricho-rhino-phalangeal syndrome, type II 423 Tricho-rhino-phalangeal syndrome, type III 423 Hypoplastic, Dysplastic 333
Chondroectodermal dysplasia 335 Dyggve-Melchior-Clausen dysplasia 335 Hypothyroidism 333
Kniest dysplasia 334
Legg-Calvè-Perthes disease 336 Meyer dysplasia 336
Multiple epiphyseal dysplasia 334 Nail-patella syndrome 333 Parastremmatic dwarfism 336
Spondyloepiphyseal dysplasia congenita 333 Stickler syndrome 335
Ivory 428
Cockayne syndrome 428 Renal osteodystrophy 428 Thiemann disease 428
Tricho-rhino-phalangeal syndrome, type I 428 Large 337
Dysplasia epiphysealis hemimelica 337 Infantile multisystem inflammatory disease 338 Megaepiphyseal dwarfism 338
Osteoporosis-macroepiphyseal dysplasia 338 Oto-spondylo-megaepiphyseal dysplasia 338 Spondylo-megaepiphyseal-metaphyseal dysplasia 338 Pseudoepiphyses 426
Cleidocranial dysplasia 426 Cockayne syndrome 427 Multiple epiphyseal dysplasia 426
Osteodysplastic primordial dwarfism, type I 427 Oto-palato-digital syndrome, type I 427 Silver-Russell syndrome 427
Transverse notch 426 Stippled 330
Chondrodysplasia punctata, Conradi-Hünermann type 330
Chondrodysplasia punctata, rhizomelic type 330 Warfarin embryopathy 331
Zellweger syndrome 331 Erb-Duchenne paralysis 277
Erdheim-Chester disease (see Lipid granulomatosis) Escobar syndrome (see Multiple pterygium syndrome) Ewing sarcoma 291
Exomphalos-macroglossia-gigantism syndrome (see Beckwith-Wiedemann syndrome) Exostoses 521
Dysplasia epiphysealis hemimelica 523 Isolated 521
Metachondromatosis 522
Multiple hereditary 220, 262, 313, 522, 562, 699 Proteus syndrome 522
Subungual 523
Tricho-rhino-phalangeal syndrome, type II 522 Turret 523
F
Facio-audio-symphalangism syndrome (see Multiple synostosis syndrome)
Faciodigitogenital syndrome (see Aarskog syndrome) Faciogenital dysplasia (see Aarskog syndrome) Faciothoracoskeletal syndrome (see Camptodactyly
syndrome, Guadalajara type I) Fahr disease 102
Fanconi anemia 380, 440, 705
Fanconi pancytopenia syndrome (see Fanconi, Anemia) Farber disease (see Farber, Lipogranulomatosis) Farber lipogranulomatosis 535
Femoral focal dysplasia, proximal 318 Femur-fibula-ulna syndrome 320 Fuhrmann syndrome 320
Al-Awadi/Raas-Rothschild syndrome 320 Femoral head
Hypoplasia/aplasia, fragmentation, collapse 263 Alcohol abuse 264
Angel-shaped phalangoepiphyseal dysplasia 266 CAMFAK syndrome 266
Collagen vascular disorders 264 Cushing disease 264
Dysbaric disorders 264 Gaucher’s disease 264 Hypothyroidism 266 Kniest dysplasia 266
Legg-Calvè-Perthes disease 264 Meyer dysplasia 265
Multiple epiphyseal dysplasia 265 Osteonecrosis 264
Radiation therapy 264 Renal transplantation 264 Sickle cell anemia 264
Spondylo-epi-metaphyseal dysplasia, Strudwick type 266
Spondyloepiphyseal dysplasia congenita 266 Steroid therapy 264
Trauma 264
Tricho-rhino-phalangeal syndrome, type I 266 Tricho-rhino-phalangeal syndrome, type II 266 Upington disease 266
Premature ossification 263
Asphyxiating thoracic dysplasia 263 Chondroectodermal dysplasia 263 Femorofacial syndrome 137, 303, 320 Femur-fibula-ulna syndrome 320, 325, 385 Fetal akinesia deformation syndrome
(see Pena-Shokeir syndrome) Fetal akinesia/hypokinesia sequence
(see Pena-Shokeir syndrome) Fetal alcohol syndrome 6
Fetal aminopterin/methotrexate syndrome 6 Fetal face syndrome (see Robinow syndrome) Fetal varicella syndrome 6
FFU complex (see Femur-fibula-ulna syndrome) FG syndrome 12
Fibrochondrogenesis 42, 142, 178, 235, 243, 345, 567 Fibrodysplasia ossificans progressiva 406, 439, 482, 558 Fibrogenesis imperfecta ossium 301
Fibrolipomatous hamartoma of nerve 416 Fibromatosis, juvenile hyaline 539 Fibrous dysplasia 57, 134, 321, 518, 528 Fibular aplasia/complex brachydactyly
(see Du Pan syndrome)
Fibular aplasia/hand brachydactyly/foot ectrodactyly 325 Fibular hemimelia 324
Aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits and nails 325
Craniosynostosis 325
Femur-fibula-ulna syndrome 325 Fibular aplasia/brachydactyly 325
Fibular aplasia/hand brachydactyly/foot ectrodactyly 325 Fuhrmann syndrome 324
Oro-facio-digital syndrome, type I 325
Fibuloulnar aplasia-hypoplasia/renal anomalies 384 Fifth digit syndrome (see Coffin-Siris syndrome) Finger hyperextensibility-facial dysmorphism 270 Flexor tenosynovitis 474
Fluorosis 294, 317
Focal dermal hypoplasia syndrome 8, 146, 355, 369, 510, 562, 708
Fong disease (see Nail-patella syndrome) Fong lesions (see Horns, iliac)
Fontaine syndrome 388
Fontanels, delayed closure (see Sutures, delayed closure) Foot
Calcaneal hindfoot 458 Cavus 458
Equinovarus deformity 459
Acromelic frontonasal dysplasia 461 Arthrogryposis multiplex congenita 460 Atelosteogenesis, type II 461
Campomelic dysplasia 461 Caudal regression syndrome 461 Diastrophic dysplasia 460 Isolated 459
Mesomelic dwarfism, Nievergelt type 461 Multiple pterygium syndrome 460 Pena-Shokeir syndrome 460 Pseudodiastrophic dysplasia 460 Schwartz-Jampel syndrome 460 Spondylo-epi-metaphyseal dysplasia
with joint laxity 461 Flat 458
Forefoot valgus 458 Forefoot varus 458 Hindfoot equinus 457 Hindfoot valgus 457 Hindfoot varus 457 Metatarsus adductus 461
Brachmann-De Lange-like facies/microcephaly/
metatarsus adductus/developmental delay 462
Carpenter syndrome 461
Chromosome trisomy 21 syndrome 461 Grebe chondrodysplasia 462
Metatarsus primus deformity 461 Vertical talus 458, 463
Digitotalar dysmorphism 464 Freeman-Sheldon syndrome 464 Isolated 464
Rasmussen syndrome 464
Foramina parietalia permagna (see Parietal foramina) Fountain syndrome 55
Fraccaro type of achondrogenesis (see Achondrogenesis, type IB) Fractures, multiple
Achondrogenesis, type I 517 Aluminum intoxication 517
Arthrogryposis multiplex congenita 517 Battered child syndrome 518
Bone cysts 518
Brittle bone disorder 517 Cockayne syndrome 517 Dysosteosclerosis 518 Enchondromatosis 518 Fibrous dysplasia 518 Gracile bone dysplasia 517
Grange occlusive arterial syndrome 517 Hallermann-Streiff syndrome 517 Homocystinuria 517
Indifference-to-pain syndrome 519 Infection 518
Neoplasms 518
Osteogenesis imperfecta, type I 516 Osteogenesis imperfecta, type IIA 517 Osteogenesis imperfecta, type IIB/III 517 Osteomalacia 517
Osteopetrosis, adult type 518 Osteopetrosis, infantile type 518 Osteoporosis, idiopathic juvenile 517 Osteoporosis, senile and postmenopausal 517 Pena-Shokeir syndrome 517
Progeria 517 Pyknodysostosis 518 Trauma 518
Werner syndrome 517
Fragile bones (see Fractures, multiple)
Fragile X syndrome (see Mental retardation, X-linked, associated with FRA Xq27.3)
Franceschetti-Zwahlen-Klein syndrome (see Treacher-Collins syndrome) François dyscephalic syndrome
(see Hallermann-Streiff syndrome)
François syndrome (see Dermo-chondro-corneal dystrophy) Fraser syndrome 247
Freeman-Sheldon syndrome 169, 464, 712 Freiberg disease 341
Friedrich’s disease 153 Fromont anomaly 445
Fronto-facio-nasal dysostosis 37
Frontometaphyseal dysplasia 55, 241, 262, 275, 344, 431, 512, 716
Frontonasal dysplasia 37, 80, 86 Frostbite 447
Fryns syndrome 150 Fucosidosis 134, 170 Fuhrmann dysplasia 169
Fuhrmann syndrome 169, 236, 320, 324
G
Gardner syndrome 296
Gaucher’s disease 181, 264, 275, 341, 502, 531 Geleophysic dysplasia 134
Genoa syndrome 79
Genu valgum 316
Deferoxamine-induced osteoarthropathy 317 Fluorosis 317
Homocystinuria 316
Multiple epiphyseal dysplasia 317 Neurofibromatosis, type I 316 Osteoarthritis 318
Osteogenesis imperfecta 316 Physiological 316
Rheumatoid arthritis 318
Spondylometaphyseal dysplasia, Algerian type 317 St. Helena familial genu valgum 317
Genu varum 314 Achondroplasia 315 Blount disease 314
Calcium pyrophosphate dihydrate crystal deposition disease 315
Campomelic dysplasia 315 Infection 315
Metabolic disorders 315
Metaphyseal chondrodysplasia 315 Neoplasms 315
Osteoarthritis 315
Slipped capital femoral epiphysis 315 Trauma 315
German syndrome 120
Geroderma osteodysplastica hereditaria 48, 503 GH deficiency 549
GH insensitivity syndrome (see Laron syndrome) Giant cell chondrodysplasia (see Atelosteogenesis, type I) Giedion syndrome (see Tricho-rhino-phalangeal syndrome,
type I)
Glycogen storage disease 502 GM1 gangliosidosis, type I 294 GM2 gangliosidosis, type I 170
Goldenhar syndrome 87, 94, 193, 209, 562, 719
Goltz syndrome (see Focal dermal hypoplasia syndrome) Goltz-Gorlin syndrome (see Focal dermal hypoplasia
syndrome)
Gordon syndrome (see Camptodactyly/cleft palate/clubfoot) Gorham-Stout disease (see Osteolysis, massive of Gorham) Gorlin syndrome (see Nevoid basal cell carcinoma syndrome) Gorlin-Goltz syndrome (see Nevoid basal cell carcinoma
syndrome)
Gorlin-Schlorf-Paparella syndrome 432 Gout 473, 497
Gracile bone dysplasia 148, 277, 299, 517, 568 Grange occlusive arterial syndrome 517 Grant syndrome 47, 159
Granulomatous infection 553
Granulomatous polyarthritis, familial/camptodactyly 412 Granulomatous synovitis, familial/uveitis/cranial neu-
ropathies 412
Grebe chondrodysplasia 306, 376, 462
Greenberg dysplasia (see Hydrops-ectopic calcification- moth-eaten skeletal dysplasia)
Greig cephalopolysyndactyly syndrome 12, 395, 397 Growth deficiency, primary 550
Growth deficiency, secondary 548 Growth delay, constitutional 548 Growth hormone (see GH) Growth plate injury 346, 351
H
Haas polysyndactyly (see Syndactyly type IV) Haim-Munk syndrome 449
Hallermann-Streiff syndrome 48, 130, 278, 299, 517, 722 Hand-foot-genital syndrome (see Hand-foot-uterus
syndrome)
Hand-foot-uterus syndrome 432, 439, 466
Hand-Schüller-Christian disease (see Langherans cell histiocytosis)
Hanhart syndrome (see Aglossia-adactyly) Happle syndrome (see Chondrodysplasia punctata,
Conradi-Hünermann type)
Happy puppet (see Angelman syndrome) Hajdu-Cheney syndrome 50, 73, 447
Heart-hand syndrome, type 1 (see Holt-Oram syndrome) Heberden’s nodes (see Osteoarthritis of distal interphalangeal
joints)
Hemangiolymphangiomatosis (see Cystic angiomatosis) Hemangioma 553
Hemangioma-thrombocytopenia syndrome (see Kasabach- Merritt syndrome)
Hemangiomatosis (see Cystic angiomatosis) Hemiatrophy (see Asymmetry, Hemiatrophy) Hemifacial atrophy, progressive 563
Hemifacial hyperplasia (see Asymmetry, Hemihypertrophy) Hemifacial hyperplasia with strabismus 262, 563
Hemifacial microsomia (see Goldenhar syndrome) Hemihyperplasia (see Asymmetry, Hemihypertrophy) Hemihypertrophy (see Asymmetry, Hemihypertrophy) Hemimelia, fibular (see Fibular hemimelia)
Hemimelia, tibial (see Tibial hemimelia) Hemivertebrae 184
Alagille syndrome 186
Aphalangy with hemivertebrae 188 Butterfly vertebrae 185
Chromosome 22q- syndrome 188 Dyssegmental dysplasia 187
Lumbo-costo-vertebral syndrome 188 Nevoid basal cell carcinoma syndrome 188 Robinow syndrome 188
Skeletal dysplasia/mental retardation/abducens palsy 188 Smith-Magenis syndrome 186
Spinal dysplasia, Anhalt type 187 Spondylocostal dysostosis 188 VATER association 186 Hemochromatosis 553 Hemophilia 276, 473 Heparin therapy 502
Hepatolenticular degeneration (see Wilson disease) Hereditary hemihypotrophy hemiparesis hemiathetosis
syndrome (see HHHH syndrome)
Heritable multiple exostoses (see Exostoses, multiple hereditary)
Herpes simplex fetal infection 6, 104 Hexadactyly (see Polydactyly, postaxial) HHHH syndrome 563
Hip dislocation 268 Congenital 268
Ehlers-Danlos syndromes 270
Finger hyperextensibility-facial dysmorphism 270 Larsen syndrome 270
Marfan syndrome 270
Spondylo-epi-metaphyseal dysplasia with joint laxity 270 Spondylo-epi-metaphyseal dysplasia with multiple
dislocations 270
Hirsutism/skeletal dysplasia/mental retardation syndrome 261
Histiocytosis (see Langherans cell histiocytosis) Hobaek type of brachyolmia (see Brachyolmia) Holoprosencephaly 78
Holt-Oram syndrome 150, 155, 370, 381, 432, 441, 442, 724 Homocystinuria 120, 173, 175, 278, 299, 316, 419, 475, 486,
517 Horns
Iliac 525
Nail-patella syndrome 525 Occipital 526
Occipital horn syndrome 526
Humeroradial synostosis/multiple synostosis syndrome 311 Hunter syndrome (see Mucopolysaccharidosis, type II) Hurler syndrome (see Mucopolysaccharidosis, type I-H) Hutchinson-Gilford progeria syndrome (see Progeria) Hydrocephalus 14
Hydrocephalus, due to congenital stenosis of the aqueduct of Silvius 15
Hydrocephalus, X-linked (see Hydrocephalus, due to congenital stenosis of the aqueduct of Silvius) Hydrolethalus 15
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia 572
Hydrosyringomyelia 223
Hyperostosis (see Cortex of bone, thickening) Hyperostosis corticalis generalisata (see Endosteal
hyperostosis, Van Buchem type) Hyperostosis frontalis interna 54
Hyperostosis generalisata with striations (see Osteopathia striata with cranial sclerosis)
Hyperostotic dwarfism 84
Hyperparathyroidism 255, 299, 477, 502, 528, 553 Hyperphosphatasemia, hereditary 60, 275, 295 Hypertelorism
Acro-fronto-facio-nasal dysostosis 81 Craniofrontonasal syndrome 80 Frontonasal dysplasia 80 Juberg-Hayward syndrome 81 Teebi hypertelorism syndrome 81
Hypertelorism-hypospadias syndrome (see Opitz syndrome) Hyperthyroidism 502
Hyperthyroidism, congenital 545
Hypertrichotic osteochondrodysplasia 261 Hypertrophic osteoarthropathy, primary
(see Pachydermoperiostosis)
Hypertrophic osteoarthropathy, secondary 292 Hypervitaminosis A 294, 347
Hypervitaminosis D 553
Hypochondrogenesis 199, 235, 246, 567 Hypochondroplasia 220, 234, 348
Hypocupremia (see Copper deficiency, nutritional) Hypoplastic pelvis/facial dysmorphism/
skeletal dysplasia 237
Hypophosphatasia, adult type 141, 283, 346, 356 Hypophosphatasia, congenital (see Hypophosphatasia,
infantile type)
Hypophosphatasia, infantile type 42, 130, 141, 200, 283, 299, 356, 523, 567
Hypophosphatasia tarda (see Hypophosphatasia, adult type)
Hypophosphatemia, X-linked 218, 282, 356
Hypospadias-dysphagia syndrome (see Opitz syndrome) Hypotelorism
Genoa syndrome 79 Holoprosencephaly 78
Hypothyroidism 44, 249, 266, 333
I
I-cell disease (see Mucolipidosis II) Iliac crest serration 244
Dyggve-Melchior-Clausen dysplasia 244 Parastremmatic dwarfism 177, 244 Smith-McCort syndrome 244 Iliac wings, flared 240
Atelosteogenesis, type I 241 Atelosteogenesis, type II 241 Boomerang dysplasia 241
Chromosome trisomy 21 syndrome 241 Dyssegmental dysplasia 242
Frontometaphyseal dysplasia 241 Melnick-Needles syndrome 241 Metatropic dysplasia 241 Mucolipidosis II 241 Mucolipidosis III 241
Mucopolysaccharidosis, type III 241 Mucopolysaccharidosis, type IV 241 Nail-patella syndrome 242
Spondyloepiphyseal dysplasia congenita 235 Spondylometaphyseal dysplasia, Kozlowski type 241 Immobilization, prolonged 277, 502, 504, 553
Immunodeficiency 502
Immunodeficiency, severe combined, with adenosine deaminase deficiency (see SCID with ADA deficiency) Incontinentia pigmenti 128, 562
Indifference-to-pain syndrome 449, 519 Infantile cortical hyperostosis (see Caffey disease) Infantile multisystem inflammatory disease 338 Infection 291, 346, 447, 518
Insensitivity-to-pain 519
Insley-Astley syndrome (see OSMED, recessive) Interpubic distance, wide 246
Achondrogenesis 246 Boomerang dysplasia 246 Chromosome 9p+ syndrome 247 Cleidocranial dysplasia 246, 648 Fraser syndrome 247
Hypochondrogenesis 246 Opsismodysplasia 246 Osteitis pubis 247
Osteodysplastic primordial dwarfism, type I 246 Prune belly syndrome 246
Pubic bone dysplasia 246
Renal-genital-middle ear anomalies 247
Schinzel-Giedion midface-retraction syndrome 247 Spondyloepiphyseal dysplasia congenita 246 Intervertebral disc calcification 230
Aarskog syndrome 231 Alkaptonuria 231
Ankylosing spondylitis 231
Calcium pyrophosphate dihydrate crystal deposition disease 230
Cockayne syndrome 231 Degenerative spinal disease 230 Idiopathic 230
Ischiadic hypoplasia/renal
dysfunction/immunodeficiency/polydactyly 238 Ischial hypoplasia/tibial hypoplasia/facial abnormalities 238 Ischio-patellar dysplasia 237, 327
Ischio-spinal dysostosis 237 Ischio-vertebral dysplasia 237
Ives-Houston syndrome (see Microcephaly-micromelia syndrome)
IVIC syndrome 443
J
Jackson-Weiss syndrome 27 Jaffe-Campanacci syndrome 531
Jaffe-Lichtenstein disease (see Fibrous dysplasia) Jarcho-Levin syndrome (see Spondylocostal dysostosis,
recessive form)
Jeune syndrome (see Asphyxiating thoracic dysplasia) Joint laxity, familial 487
Joints
Ankylosis 481
Arthritis, chronic juvenile 481 Arthritis, septic 481
Electrical injury 482
Fibrodysplasia ossificans progressiva 482 Mixed connective tissue disease 482 Myositis ossificans 482
Neuromuscular disorders 482 Rheumatoid arthritis 481 Scleroderma 481
Spondyloarthropathies, seronegative 481 Surgery 482
Thermal injury 482 Contractures, stiffness 473
Amyloidosis 473 Amyoplasia 476
Arthrogryposis multiplex congenita 476 Arthrogryposis, distal type I 477 Arthrogryposis, distal type II 477
Calcium pyrophosphate dihydrate crystal deposition disease 473
Camptodactyly 476 Congenital 475
Contractural arachnodactyly, congenital 477 Dermatomyositis 473
Diabetes 473
Ehlers-Danlos syndromes 475 Gout 473
Hemophilia 473 Homocystinuria 475
Marden-Walker syndrome 478 Marfan syndrome 475
Multiple pterygium syndrome 477 Pena-Shokeir syndrome 478
Progressive pseudorheumatoid arthropathy 474 Rheumatoid arthritis 473
Sarcoidosis 473
Schwartz-Jampel syndrome 477 Scleroderma 473
Spondyloepiphyseal dysplasia, Stanescu type 475 Systemic lupus erythematosus 473
Trauma 473
Trismus-pseudocamptodactyly syndrome 476
Laxity, hypermobility 485
Chromosome trisomy 21 syndrome 487 Ehlers-Danlos syndromes 485
Homocystinuria 486 Joint laxity, familial 487 Marfan syndrome 486 Osteogenesis imperfecta 486 Spondylo-epi-metaphyseal dysplasia
with joint laxity 487 Subluxation, dislocation 490
Auriculo-osteodysplasia 491
Cutis laxa-corneal clouding-mental retardation 493 Desbuquois syndrome 492
Dislocation of hip (see Hip dislocation) Dislocation of knee, congenital 491 Dislocation of radial head, congenital 491
Dislocation of radial head, congenital, posterior 491 Dislocation of vertebra, congenital 491
Larsen syndrome 491
Larsen-like syndrome, lethal type 492 Nail-patella syndrome 491
Noonan syndrome 491
Ophthalmo-mandibulo-melic dysplasia 491 Oto-palato-digital syndrome, type I 491 Pseudodiastrophic dysplasia 493 RAPADILINO syndrome 493 Spondylo-epi-metaphyseal dysplasia
with multiple dislocations 492 Spondylo-mesomelic-acrodysplasia
with joint dislocations and SCID 494 Tarsal/carpal/coalition syndrome 491 Juberg-Hayward syndrome 81, 440
Juvenile chronic arthritis (see Arthritis, chronic juvenile) Juvenile hyaline fibromatosis (see Fibromatosis,
juvenile hyaline)
Juvenile hyalinosis, systemic (see Fibromatosis, juvenile hyaline)
K
Kallmann syndrome 84
Karsch-Neugebauer syndrome 388 Kartagener syndrome 89
Kasabach-Merritt syndrome 565 Kearns-Sayre syndrome 102 Kenny-Caffey syndrome 727 Keutel syndrome 89, 365, 553 Kienböck disease 341, 429 Kirghizian dermato-osteolysis 540 Kirner’s deformity 409
Kleeblattschaedel syndrome (see Cloverleaf skull) Klippel-Feil anomaly 191, 209, 220, 402, 562, 729 Klippel-Feil syndrome (see Klippel-Feil anomaly) Klippel-Trenaunay-Weber syndrome 105, 416, 565, 732 Klumpke’s paralysis 277
Kniest dysplasia 197, 204, 212, 249, 266, 334, 344, 497, 735 Knobloch syndrome 37
Knock-knee (see Genu valgum) Köhler disease 341
Kowarski syndrome 550
Kyphomelic dysplasia 116, 142, 286 Kyphosis, congenital 212
