Long known as the go-to resource for superbly illustrated, up-to-date coverage in this complex field, Smith's Recognizable Patterns of Human Malformation, 8th Edition, provides a wealth of information on malformation syndromes of environmental and genetic etiology, recognizable disorders of unknown cause, clinical approaches to specific diagnoses, and normal standards of measurement for the entire spectrum of disorders. This award-winning reference is indispensable for clinicians in pediatrics, neonatology, family medicine, and genetics, as well as nurse practitioners and physician assistants—anyone who needs a complete, authoritative, and easy-to-read guide to help accurately diagnose human disorders, establish prognoses, and provide appropriate management and genetic counseling.
Includes an easy-to-read description of each condition: Common and occasional abnormalities, natural history, etiology, and references. Opposing pages contain descriptive photographs and line drawings of either an individual with the abnormality or specific features of the abnormality.
Contains new coverage of Hennekam Syndrome, Parkes Weber Syndrome, KBG Syndrome, Kosaki Overgrowth, Malan Syndrome, and much more.
Arranges disorders based on similarity in overall features, so you can easily navigate to the correct section and compare/contrast similar disorders.
Features more than 1,500 full-color photographs and illustrations, many from the personal collections of Drs. Smith and Jones, and others from multiple international collaborators.
Provides summarized information in order to understand basic mechanisms of morphogenesis and birth defects and key concepts in genetics and genetic testing—necessary information for counseling patients and parents.
1. Introduction. Dysmorphology Approach and Classification - p. xvii 2. Chapter 1. Recognizable Patterns of Malformation - p. xxii 3. A. Chromosomal Abnormality Syndromes Identifiable on Routine Karyotype - p. 1 4. B. Deletion, Duplication, and Microduplication Syndromes Identifiable Using Molecular Technology - p. 76 5. C. Very Small Stature, Not Skeletal Dysplasia - p. 100 6. D. Moderate Short Stature, Facial, ± Genital - p. 134 7. E. Senile-Like Appearance - p. 174 8. F. Early Overgrowth with Associated Defects - p. 198 9. G. Unusual Brain and/or Neuromuscular Findings with Associated Defects - p. 226 10. Amyoplasia Congenita Disruptive Sequence - p. 226 11. Distal Arthrogryposis Syndrome, Type 1 - p. 230 12. Pena-Shokeir Phenotype (Fetal Akinesia/Hypokinesia Sequence) - p. 234 13. Cerebro-Oculo-Facio-Skeletal (COFS) Syndrome - p. 236 14. Bohring-Opitz Syndrome - p. 238 15. Lethal Multiple Pterygium Syndrome - p. 240 16. Neu-Laxova Syndrome - p. 242 17. Restrictive Dermopathy - p. 244 18. Meckel-Gruber Syndrome (Dysencephalia Splanchnocystica) - p. 246 19. Pallister-Hall Syndrome - p. 248 20. Gómez–López-Hernández Syndrome (Cerebello-Trigeminal Dysplasia, Cerebello-Trigeminal-Dermal Dysplasia) - p. 250 21. X-Linked Hydrocephalus Spectrum (X-Linked Hydrocephalus Syndrome, MASA Syndrome, L1 syndrome) - p. 252 22. Hydrolethalus Syndrome - p. 254 23. Walker-Warburg Syndrome (Hard ± E Syndrome, Warburg Syndrome) - p. 256 24. Miller-Dieker Syndrome (Lissencephaly Syndrome) - p. 258 25. Nablus Mask-Like Facial Syndrome (Microdeletion 8q22.1 Syndrome) - p. 262 26. Smith-Magenis Syndrome (17P11.2 Microdeletion Syndrome) - p. 266 27. Menkes Disease (Menkes Kinky Hair Syndrome) - p. 270 28. Pitt-Hopkins Syndrome - p. 272 29. Angelman Syndrome (Happy Puppet Syndrome) - p. 274 30. Prader-Willi Syndrome - p. 278 31. Cohen Syndrome - p. 284 32. Pallister-Killian Syndrome (Pallister Mosaic Syndrome, Killian/Teschler-Nicola Syndrome, Tetrasomy 12p) - p. 288 33. Fryns Syndrome - p. 292 34. Matthew-Wood Syndrome (PDAC Syndrome, Spear Syndrome and Microphthalmic Syndrome 9 (MCOPS 9)) - p. 294 35. Zellweger Spectrum Disorders - p. 296 36. Freeman-Sheldon Syndrome (Whistling Face Syndrome, Distal Arthrogryposis Type 2A) - p. 300 37. Myotonic Dystrophy Syndrome (Myotonic Dystrophy Type 1, Steinert Syndrome, Dystrophia Myotonica) - p. 302 38. Schwartz-Jampel Syndrome (Chondrodystrophia Myotonia) - p. 304 39. Schinzel-Giedion Syndrome - p. 306 40. Acrocallosal Syndrome - p. 308 41. 3C Syndrome (Ritscher-Schinzel Syndrome, Cranio-Cerebello-Cardiac Syndrome) - p. 310 42. Hecht Syndrome (Trismus Pseudocamptodactyly Syndrome, Distal Arthrogryposis Type 7, Dutch-Kentucky Syndrome) - p. 312 43. Baraitser Winter Syndrome - p. 314 44. H. Facial Defects as Major Feature - p. 322 45. I. Facial-Limb Defects as Major Feature - p. 370 46. J. Limb Defect as Major Feature - p. 428 47. K. Osteochondrodysplasias - p. 460 48. L. Osteochondrodysplasia with Osteopetrosis - p. 558 49. M. Craniosynostosis Syndromes - p. 570 50. N. Other Skeletal Dysplasias - p. 600 51. O. Storage Disorders - p. 638 52. P. Connective Tissue Disorders - p. 658 53. Q. Hamartoses - p. 698 54. R. Ectodermal Dysplasias - p. 760 55. S. Environmental Agents - p. 786 56. T. Miscellaneous Syndromes - p. 816 57. U. Miscellaneous Sequences - p. 866 58. V. Spectra of Defects - p. 904 59. W. Miscellaneous Associations - p. 922 60. Chapter 2. Genetics, Genetic Counseling, and Prevention - p. 929 61. Chapter 3. Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation Syndromes - p. 955 62. Chapter 4. Normal Standards - p. 973 63. Appendix. Pattern of Malformation Differential Diagnosis by Anomalies - p. 998 64. Index - p. 1055
Long known as the go-to resource for superbly illustrated, up-to-date coverage in this complex field, Smith's Recognizable Patterns of Human Malformation, 8th Edition, provides a wealth of information on malformation syndromes of environmental and genetic etiology, recognizable disorders of unknown cause, clinical approaches to specific diagnoses, and normal standards of measurement for the entire spectrum of disorders. This award-winning reference is indispensable for clinicians in pediatrics, neonatology, family medicine, and genetics, as well as nurse practitioners and physician assistants—anyone who needs a complete, authoritative, and easy-to-read guide to help accurately diagnose human disorders, establish prognoses, and provide appropriate management and genetic counseling.
Includes an easy-to-read description of each condition: Common and occasional abnormalities, natural history, etiology, and references. Opposing pages contain descriptive photographs and line drawings of either an individual with the abnormality or specific features of the abnormality.
Contains new coverage of Hennekam Syndrome, Parkes Weber Syndrome, KBG Syndrome, Kosaki Overgrowth, Malan Syndrome, and much more.
Arranges disorders based on similarity in overall features, so you can easily navigate to the correct section and compare/contrast similar disorders.
Features more than 1,500 full-color photographs and illustrations, many from the personal collections of Drs. Smith and Jones, and others from multiple international collaborators.
Provides summarized information in order to understand basic mechanisms of morphogenesis and birth defects and key concepts in genetics and genetic testing—necessary information for counseling patients and parents.
1. Introduction. Dysmorphology Approach and Classification - p. xvii 2. Chapter 1. Recognizable Patterns of Malformation - p. xxii 3. A. Chromosomal Abnormality Syndromes Identifiable on Routine Karyotype - p. 1 4. B. Deletion, Duplication, and Microduplication Syndromes Identifiable Using Molecular Technology - p. 76 5. C. Very Small Stature, Not Skeletal Dysplasia - p. 100 6. D. Moderate Short Stature, Facial, ± Genital - p. 134 7. E. Senile-Like Appearance - p. 174 8. F. Early Overgrowth with Associated Defects - p. 198 9. G. Unusual Brain and/or Neuromuscular Findings with Associated Defects - p. 226 10. Amyoplasia Congenita Disruptive Sequence - p. 226 11. Distal Arthrogryposis Syndrome, Type 1 - p. 230 12. Pena-Shokeir Phenotype (Fetal Akinesia/Hypokinesia Sequence) - p. 234 13. Cerebro-Oculo-Facio-Skeletal (COFS) Syndrome - p. 236 14. Bohring-Opitz Syndrome - p. 238 15. Lethal Multiple Pterygium Syndrome - p. 240 16. Neu-Laxova Syndrome - p. 242 17. Restrictive Dermopathy - p. 244 18. Meckel-Gruber Syndrome (Dysencephalia Splanchnocystica) - p. 246 19. Pallister-Hall Syndrome - p. 248 20. Gómez–López-Hernández Syndrome (Cerebello-Trigeminal Dysplasia, Cerebello-Trigeminal-Dermal Dysplasia) - p. 250 21. X-Linked Hydrocephalus Spectrum (X-Linked Hydrocephalus Syndrome, MASA Syndrome, L1 syndrome) - p. 252 22. Hydrolethalus Syndrome - p. 254 23. Walker-Warburg Syndrome (Hard ± E Syndrome, Warburg Syndrome) - p. 256 24. Miller-Dieker Syndrome (Lissencephaly Syndrome) - p. 258 25. Nablus Mask-Like Facial Syndrome (Microdeletion 8q22.1 Syndrome) - p. 262 26. Smith-Magenis Syndrome (17P11.2 Microdeletion Syndrome) - p. 266 27. Menkes Disease (Menkes Kinky Hair Syndrome) - p. 270 28. Pitt-Hopkins Syndrome - p. 272 29. Angelman Syndrome (Happy Puppet Syndrome) - p. 274 30. Prader-Willi Syndrome - p. 278 31. Cohen Syndrome - p. 284 32. Pallister-Killian Syndrome (Pallister Mosaic Syndrome, Killian/Teschler-Nicola Syndrome, Tetrasomy 12p) - p. 288 33. Fryns Syndrome - p. 292 34. Matthew-Wood Syndrome (PDAC Syndrome, Spear Syndrome and Microphthalmic Syndrome 9 (MCOPS 9)) - p. 294 35. Zellweger Spectrum Disorders - p. 296 36. Freeman-Sheldon Syndrome (Whistling Face Syndrome, Distal Arthrogryposis Type 2A) - p. 300 37. Myotonic Dystrophy Syndrome (Myotonic Dystrophy Type 1, Steinert Syndrome, Dystrophia Myotonica) - p. 302 38. Schwartz-Jampel Syndrome (Chondrodystrophia Myotonia) - p. 304 39. Schinzel-Giedion Syndrome - p. 306 40. Acrocallosal Syndrome - p. 308 41. 3C Syndrome (Ritscher-Schinzel Syndrome, Cranio-Cerebello-Cardiac Syndrome) - p. 310 42. Hecht Syndrome (Trismus Pseudocamptodactyly Syndrome, Distal Arthrogryposis Type 7, Dutch-Kentucky Syndrome) - p. 312 43. Baraitser Winter Syndrome - p. 314 44. H. Facial Defects as Major Feature - p. 322 45. I. Facial-Limb Defects as Major Feature - p. 370 46. J. Limb Defect as Major Feature - p. 428 47. K. Osteochondrodysplasias - p. 460 48. L. Osteochondrodysplasia with Osteopetrosis - p. 558 49. M. Craniosynostosis Syndromes - p. 570 50. N. Other Skeletal Dysplasias - p. 600 51. O. Storage Disorders - p. 638 52. P. Connective Tissue Disorders - p. 658 53. Q. Hamartoses - p. 698 54. R. Ectodermal Dysplasias - p. 760 55. S. Environmental Agents - p. 786 56. T. Miscellaneous Syndromes - p. 816 57. U. Miscellaneous Sequences - p. 866 58. V. Spectra of Defects - p. 904 59. W. Miscellaneous Associations - p. 922 60. Chapter 2. Genetics, Genetic Counseling, and Prevention - p. 929 61. Chapter 3. Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation Syndromes - p. 955 62. Chapter 4. Normal Standards - p. 973 63. Appendix. Pattern of Malformation Differential Diagnosis by Anomalies - p. 998 64. Index - p. 1055
