9780721606156

Smith’s Recognizable Patterns of Human Malformation

by
  • ISBN13:

    9780721606156

  • ISBN10:

    0721606156

  • Edition: 6th
  • Format: Hardcover
  • Copyright: 2005-08-25
  • Publisher: ELSEVIER SAUNDERS PUBLISHING

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Supplemental Materials

What is included with this book?

Summary

The completely revised and updated New Edition of this definitive textnow in full color! Long known as the source to consult for guidance on diagnosis, prognosis, plan management, and genetic counseling, this easy-to-use reference focuses on the patterns of human defects caused by inborn errors in morphogenesis as opposed to defects caused by mechanical problems. It provides a wealth of information on normal and abnormal morphogenesis * minor anomalies and their relevance * clinical approaches to specific diagnoses * and normal standards of measurement for the entire spectrum of disorders. Each chapter includes a description of the specific abnormalityincluding occasional associated abnormalitiesnatural history, etiology, and references. On opposing pages are several descriptive photographs and line drawings of either an individual with the abnormality or specific features of the abnormality. Provides over 1,450 photographs and illustrations to depict each malformationmany from the personal collections of Drs. Smith and Jonesto aid readers in diagnosis. Uses a consistent chapter format to help readers quickly and easily find information on any given disorder Offers the most current coverage available on existing disorders and their molecular basis, plus the very latest information on virtually any genetic or physiological malformation. Offers a clearer understanding of abnormalities through the use of more than 1,000 new full-color figures and photographs. Includes updates for every disorder, with extensive new information on the molecular basis of malformations as well as new clinical information for many disorders. Covers 16 additional commonly seen disorders, including Deletion 1p36 syndrome * Deleletion 22q13 syndrome * Meier-Gorlin Syndrome * Short Syndrome * 3-C Syndrome * GAPO Syndrome * Lenz Microphthalmia Syndrome * Muenke Craniosynostosis * Torriello-Carey Syndrome * Mandibulo-Acral Syndrome * Mowat-Wilson Syndrome * Ulnar-Mammary Syndrome * Kaufman-McKusick Syndrome * Smith-Maginess Syndrome * Wiedeman-Rautenstrauch Syndrome * and Shprintzen-Golberg Syndrome. Presents a wealth of new Growth Charts, plus complete revisions to existing Growth Charts.

Table of Contents

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

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