Introduction: Dysmorphology Approach and Classification | p. 1 |
Recognizable Patterns of Malformation | p. 7 |
Chromosomal Abnormality Syndromes | p. 7 |
Down Syndrome | p. 7 |
Trisomy 18 Syndrome | p. 13 |
Trisomy 13 Syndrome | p. 18 |
Trisomy 8 Syndrome | p. 22 |
Trisomy 9 Mosaic Syndrome | p. 26 |
Triploidy Syndrome and Diploid/Triploid Mixoploidy Syndrome | p. 28 |
Deletion 3p Syndrome | p. 32 |
Duplication 3q Syndrome | p. 34 |
Deletion 4p Syndrome | p. 36 |
Deletion 4q Syndrome | p. 38 |
Deletion 5p Syndrome | p. 40 |
Deletion 9p Syndrome | p. 44 |
Duplication 9p Syndrome | p. 46 |
Duplication 10q Syndrome | p. 49 |
Aniridia-Wilms Tumor Association | p. 52 |
Deletion 11q Syndrome | p. 54 |
Deletion 13q Syndrome | p. 56 |
Duplication 15q Syndrome | p. 58 |
Deletion 18p Syndrome | p. 60 |
Deletion 18q Syndrome | p. 62 |
Cat-Eye Syndrome | p. 64 |
XYY Syndrome | p. 66 |
XXY Syndrome, Klinefelter Syndrome | p. 68 |
XXXY and XXXXY Syndromes | p. 70 |
XXX and XXXX Syndromes | p. 72 |
XXXXX Syndrome | p. 74 |
45X Syndrome | p. 76 |
Very Small Stature, Not Skeletal Dysplasia | p. 82 |
Brachmann-de Lange Syndrome | p. 82 |
Rubinstein-Taybi Syndrome | p. 88 |
Russell-Silver Syndrome | p. 92 |
SHORT Syndrome | p. 95 |
3-M Syndrome | p. 96 |
Mulibrey Nanism Syndrome | p. 98 |
Dubowitz Syndrome | p. 100 |
Bloom Syndrome | p. 102 |
Johanson-Blizzard Syndrome | p. 106 |
Seckel Syndrome | p. 108 |
Hallermann-Streiff Syndrome | p. 110 |
Moderate Short Stature, Facial, [plus or minus] Genital | p. 114 |
Smith-Lemli-Opitz Syndrome | p. 114 |
Kabuki Syndrome | p. 118 |
Williams Syndrome | p. 120 |
Noonan Syndrome | p. 124 |
Costello Syndrome | p. 128 |
Cardio-Facio-Cutaneous Syndrome | p. 131 |
Aarskog Syndrome | p. 134 |
Robinow Syndrome | p. 136 |
Opitz G/BBB Syndrome | p. 140 |
Floating-Harbor Syndrome | p. 144 |
Senile-Like Appearance | p. 146 |
Progeria Syndrome | p. 146 |
Wiedemann-Rautenstrauch Syndrome | p. 150 |
Werner Syndrome | p. 152 |
Cockayne Syndrome | p. 154 |
Rothmund-Thomson Syndrome | p. 157 |
Early Overgrowth with Associated Defects | p. 160 |
Fragile X Syndrome | p. 160 |
Sotos Syndrome | p. 163 |
Weaver Syndrome | p. 168 |
Marshall-Smith Syndrome | p. 172 |
Beckwith-Wiedemann Syndrome | p. 174 |
Simpson-Golabi-Behmel Syndrome | p. 178 |
Unusual Brain and/or Neuromuscular Findings with Associated Defects | p. 180 |
Amyoplasia Congenita Disruptive Sequence | p. 180 |
Distal Arthrogryposis Syndrome, Type 1 | p. 184 |
Pena-Shokeir Phenotype | p. 188 |
Cerebro-Oculo-Facio-Skeletal (COFS) Syndrome | p. 190 |
Lethal Multiple Pterygium Syndrome | p. 192 |
Neu-Laxova Syndrome | p. 194 |
Restrictive Dermopathy | p. 196 |
Meckel-Gruber Syndrome | p. 198 |
Pallister-Hall Syndrome | p. 200 |
X-Linked Hydrocephalus Spectrum | p. 202 |
Hydrolethalus Syndrome | p. 204 |
Walker-Warburg Syndrome | p. 206 |
Miller-Dieker Syndrome | p. 208 |
Smith-Magenis Syndrome | p. 210 |
Ataxia-Telangiectasia Syndrome | p. 213 |
Menkes Syndrome | p. 216 |
22q13 Deletion Syndrome | p. 218 |
Angelman Syndrome | p. 220 |
Prader-Willi Syndrome | p. 223 |
Cohen Syndrome | p. 228 |
Killian/Teschler-Nicola Syndrome | p. 230 |
1p36 Deletion Syndrome | p. 234 |
Fryns Syndrome | p. 236 |
Zellweger Syndrome | p. 238 |
Freeman-Sheldon Syndrome | p. 242 |
Myotonic Dystrophy Syndrome | p. 244 |
Schwartz-Jampel Syndrome | p. 246 |
Marden-Walker Syndrome | p. 248 |
Schinzel-Giedion Syndrome | p. 250 |
Acrocallosal Syndrome | p. 252 |
3C Syndrome | p. 254 |
Hecht Syndrome | p. 256 |
Facial Defects As Major Feature | p. 258 |
Moebius Sequence | p. 258 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome | p. 260 |
Robin Sequence | p. 262 |
Cleft Lip Sequence | p. 264 |
Van der Woude Syndrome | p. 266 |
Frontonasal Dysplasia Sequence | p. 268 |
Fraser Syndrome | p. 270 |
Melnick-Fraser Syndrome | p. 272 |
Branchio-Oculo-Facial Syndrome | p. 274 |
Charge Syndrome | p. 276 |
Waardenburg Syndrome, Types I and II | p. 278 |
Treacher Collins Syndrome | p. 280 |
Marshall Syndrome | p. 282 |
Cervico-Oculo-Acoustic Syndrome | p. 284 |
Facial-Limb Defects As Major Feature | p. 286 |
Miller Syndrome | p. 286 |
Nager Syndrome | p. 288 |
Townes-Brocks Syndrome | p. 290 |
Oral-Facial-Digital Syndrome | p. 292 |
Mohr Syndrome | p. 296 |
Deletion 22q11.2 Syndrome | p. 298 |
Oculodentodigital Syndrome | p. 302 |
Lenz Microphthalmia Syndrome | p. 306 |
Oto-Palato-Digital Syndrome, Type I | p. 308 |
Oto-Palato-Digital Syndrome, Type II | p. 310 |
Coffin-Lowry Syndrome | p. 312 |
X-Linked [alpha]-Thalassemia/Mental Retardation Syndrome | p. 314 |
FG Syndrome | p. 316 |
Stickler Syndrome | p. 318 |
Catel-Manzke Syndrome | p. 322 |
Langer-Giedion Syndrome | p. 324 |
Tricho-Rhino-Phalangeal Syndrome, Type I | p. 328 |
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome | p. 330 |
Hay-Wells Syndrome of Ectodermal Dysplasia | p. 332 |
Roberts Syndrome | p. 334 |
Limb Defect As Major Feature | p. 338 |
Grebe Syndrome | p. 338 |
Poland Sequence | p. 340 |
Ulnar-Mammary Syndrome | p. 342 |
Popliteal Pterygium Syndrome | p. 344 |
Escobar Syndrome | p. 346 |
Child Syndrome | p. 348 |
Femoral Hypoplasia-Unusual Facies Syndrome | p. 350 |
Tibial Aplasia-Ectrodactyly Syndrome | p. 354 |
Adams-Oliver Syndrome | p. 356 |
Holt-Oram Syndrome | p. 358 |
Levy-Hollister Syndrome | p. 360 |
Fanconi Pancytopenia Syndrome | p. 362 |
Radial Aplasia-Thrombocytopenia Syndrome | p. 364 |
Aase Syndrome | p. 366 |
Osteochondrodysplasias | p. 368 |
Achondrogenesis, Types IA and IB | p. 368 |
Type II Achondrogenesis-Hypochondrogenesis | p. 370 |
Fibrochondrogenesis | p. 372 |
Atelosteogenesis, Type I | p. 374 |
Short Rib-Polydactyly Syndrome, Type I (Saldino-Noonan Type) | p. 378 |
Short Rib-Polydactyly Syndrome, Type II (Majewski Type) | p. 380 |
Thanatophoric Dysplasia | p. 382 |
Jeune Thoracic Dystrophy | p. 386 |
Campomelic Dysplasia | p. 388 |
Achondroplasia | p. 390 |
Hypochondroplasia | p. 398 |
Pseudoachondroplasia | p. 400 |
Acromesomelic Dysplasia | p. 404 |
Spondyloepiphyseal Dysplasia Congenita | p. 407 |
Kniest Dysplasia | p. 410 |
Dyggve-Melchior-Clausen Syndrome | p. 412 |
Spondylometaphyseal Dysplasia, Kozlowski Type | p. 414 |
Metatropic Dysplasia | p. 416 |
Geleophysic Dysplasia | p. 420 |
Chondroectodermal Dysplasia | p. 422 |
Diastrophic Dysplasia | p. 424 |
X-Linked Recessive Spondyloepiphyseal Dysplasia Tarda | p. 426 |
Multiple Epiphyseal Dysplasia | p. 428 |
Metaphyseal Dysplasia, Schmid Type | p. 430 |
Metaphyseal Dysplasia, McKusick Type | p. 432 |
Metaphyseal Dysplasia, Jansen Type | p. 434 |
Shwachman-Diamond Syndrome | p. 436 |
Chondrodysplasia Punctata, X-Linked Dominant Type | p. 437 |
Autosomal Recessive Chondrodysplasia Punctata | p. 440 |
Hypophosphatasia | p. 442 |
Hajdu-Cheney Syndrome | p. 444 |
Craniometaphyseal Dysplasia | p. 448 |
Frontometaphyseal Dysplasia | p. 450 |
Osteochondrodysplasia with Osteopetrosis | p. 453 |
Osteopetrosis: Autosomal Recessive-Lethal | p. 453 |
Sclerosteosis | p. 456 |
Lenz-Majewski Hyperostosis Syndrome | p. 458 |
Pyknodysostosis | p. 460 |
Cleidocranial Dysostosis | p. 462 |
Yunis-Varon Syndrome | p. 466 |
Craniosynostosis Syndromes | p. 468 |
Saethre-Chotzen Syndrome | p. 468 |
Pfeiffer Syndrome | p. 472 |
Apert Syndrome | p. 474 |
Crouzon Syndrome | p. 478 |
FGFR3-Associated Coronal Synostosis Syndrome | p. 480 |
Craniofrontonasal Dysplasia | p. 482 |
Carpenter Syndrome | p. 484 |
Greig Cephalopolysyndactyly Syndrome | p. 486 |
Antley-Bixler Syndrome | p. 488 |
Baller-Gerold Syndrome | p. 492 |
Other Skeletal Dysplasias | p. 494 |
Multiple Synostosis Syndrome | p. 494 |
Spondylocarpotarsal Synostosis Syndrome | p. 496 |
Larsen Syndrome | p. 498 |
Multiple Exostoses Syndrome | p. 500 |
Nail-Patella Syndrome | p. 504 |
Meier-Gorlin Syndrome | p. 508 |
Leri-Weill Dyschondrosteosis | p. 510 |
Langer Mesomelic Dysplasia | p. 512 |
Acrodysostosis | p. 514 |
Albright Hereditary Osteodystrophy | p. 516 |
Storage Disorders | p. 518 |
Generalized Gangliosidosis Syndrome, Type I (Severe Infantile Type) | p. 518 |
Leroy I-Cell Syndrome | p. 520 |
Pseudo-Hurler Polydystrophy Syndrome | p. 522 |
Hurler Syndrome | p. 524 |
Scheie Syndrome | p. 528 |
Hurler-Scheie Syndrome | p. 530 |
Hunter Syndrome | p. 532 |
Sanfilippo Syndrome | p. 536 |
Morquio Syndrome | p. 538 |
Maroteaux-Lamy Mucopolysaccharidosis Syndrome (Mild, Moderate, and Severe Types) | p. 542 |
Mucopolysaccharidosis VII | p. 544 |
Connective Tissue Disorders | p. 546 |
Marfan Syndrome | p. 546 |
Beals Syndrome | p. 552 |
Shprintzen-Goldberg Syndrome | p. 554 |
Ehlers-Danlos Syndrome | p. 558 |
Osteogenesis Imperfecta Syndrome, Type I | p. 562 |
Osteogenesis Imperfecta Syndrome, Type II | p. 565 |
Fibrodysplasia Ossificans Progressiva Syndrome | p. 568 |
Hamartoses | p. 572 |
Sturge-Weber Sequence | p. 572 |
Neurocutaneous Melanosis Sequence | p. 574 |
Linear Sebaceous Nevus Sequence | p. 576 |
Incontinentia Pigmenti Syndrome | p. 580 |
Hypomelanosis of Ito | p. 584 |
Tuberous Sclerosis Syndrome | p. 586 |
Neurofibromatosis Syndrome | p. 590 |
McCune-Albright Syndrome | p. 594 |
Klippel-Trenaunay Syndrome | p. 598 |
Proteus Syndrome | p. 600 |
Encephalocraniocutaneous Lipomatosis | p. 604 |
Maffucci Syndrome | p. 606 |
Peutz-Jeghers Syndrome | p. 608 |
Bannayan-Riley-Ruvalcaba Syndrome | p. 610 |
Hereditary Hemorrhagic Telangiectasia | p. 612 |
Multiple Endocrine Neoplasia, Type 2b | p. 614 |
Gorlin Syndrome | p. 616 |
Multiple Lentigines Syndrome | p. 620 |
Goltz Syndrome | p. 622 |
Microphthalmia-Linear Skin Defects Syndrome | p. 626 |
Ectodermal dysplasias | p. 628 |
Hypohidrotic Ectodermal Dysplasia | p. 628 |
Rapp-Hodgkin Ectodermal Dysplasia | p. 632 |
Tricho-Dento-Osseous Syndrome | p. 634 |
Clouston Syndrome | p. 636 |
GAPO Syndrome | p. 638 |
Pachyonychia Congenita Syndrome | p. 640 |
Xeroderma Pigmentosa Syndrome | p. 642 |
Senter-KID Syndrome | p. 644 |
Environmental Agents | p. 646 |
Fetal Alcohol Syndrome | p. 646 |
Fetal Hydantoin Syndrome | p. 652 |
Fetal Valproate Syndrome | p. 654 |
Fetal Warfarin Syndrome | p. 656 |
Fetal Aminopterin/Methotrexate Syndrome | p. 658 |
Retinoic Acid Embryopathy | p. 660 |
Fetal Varicella Syndrome | p. 662 |
Hyperthermia-Induced Spectrum of Defects | p. 664 |
Miscellaneous Syndromes | p. 666 |
Coffin-Siris Syndrome | p. 666 |
Borjeson-Forssman-Lehmann Syndrome | p. 668 |
Alagille Syndrome | p. 670 |
Melnick-Needles Syndrome | p. 674 |
Bardet-Biedl Syndrome | p. 676 |
McKusick-Kaufman Syndrome | p. 678 |
Rieger Syndrome | p. 680 |
Peters'-Plus Syndrome | p. 682 |
Toriello-Carey Syndrome | p. 684 |
Mowat-Wilson Syndrome | p. 686 |
Cerebro-Costo-Mandibular Syndrome | p. 688 |
Jarcho-Levin Syndrome | p. 690 |
Mandibuloacral Dysplasia | p. 692 |
Berardinelli Lipodystrophy Syndrome | p. 694 |
Distichiasis-Lymphedema Syndrome | p. 696 |
Miscellaneous Sequences | p. 698 |
Laterality Sequences | p. 698 |
Holoprosencephaly Sequence | p. 701 |
Meningomyelocele, Anencephaly, Iniencephaly Sequences | p. 704 |
Occult Spinal Dysraphism Sequence | p. 706 |
Septo-Optic Dysplasia Sequence | p. 708 |
Athyrotic Hypothyroidism Sequence | p. 710 |
DiGeorge Sequence | p. 714 |
Klippel-Feil Sequence | p. 716 |
Early Urethral Obstruction Sequence | p. 718 |
Exstrophy of Bladder Sequence | p. 720 |
Exstrophy of Cloaca Sequence | p. 722 |
Urorectal Septum Malformation Sequence | p. 724 |
Oligohydramnios Sequence | p. 726 |
Sirenomelia Sequence | p. 728 |
Caudal Dysplasia Sequence | p. 730 |
Amnion Rupture Sequence | p. 732 |
Limb-Body Wall Complex | p. 736 |
Spectra of Defects | p. 738 |
Oculo-Auriculo-Vertebral Spectrum | p. 738 |
Oromandibular-Limb Hypogenesis Spectrum | p. 742 |
Congenital Microgastria-Limb Reduction Complex | p. 744 |
Sternal Malformation-Vascular Dysplasia Spectrum | p. 746 |
Monozygotic Twinning and Structural Defects-General | p. 748 |
Miscellaneous Associations | p. 756 |
Vaterr Association | p. 756 |
Murcs Association | p. 760 |
Alphabetical Listing of Syndromes | p. 762 |
Approaches to Categorical Problems: Growth Deficiency, Mental Deficiency, Arthrogryposis, Ambiguous External Genitalia | p. 767 |
Morphogenesis and Dysmorphogenesis | p. 783 |
Genetics, Genetic Counseling, and Prevention | p. 796 |
Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation Syndromes | p. 817 |
Normal Standards | p. 835 |
Pattern of Malformation Differential Diagnosis by Anomalies | p. 865 |
Nomenclature for Chromosomal Syndromes | p. 937 |
Index | p. 941 |
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