Atlas of Genetic Diagnosis and Counseling

Many birth defects, although rare individually, are encountered in clinical practice and have now become treatable if properly diagnosed. In the Atlas of Genetic Diagnosis and Counseling, Harold Chen, MD, shares his almost 40 years of clinical genetics practice in a comprehensive pictorial atlas of 203 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available. Also available in a CD-ROM edition (ISBN: 1-58829-974-5). Authoritative and up-to-date, the Atlas of Genetic Diagnosis and Counseling will help all physicians to understand and recognize genetic diseases and malformation syndromes, and consequently better evaluate, counsel, and manage affected patients. Preface......Page 5 Contents......Page 6 Acknowledgments......Page 9 Genetics/basic Defects......Page 10 Clinical Features......Page 11 References......Page 12 Diagnostic Investigations......Page 16 References......Page 18 Genetics/basic Defects......Page 24 Diagnostic Investigations......Page 25 Genetic Counseling......Page 26 References......Page 27 Clinical Features......Page 32 References......Page 33 Clinical Features......Page 35 References......Page 36 Diagnostic Investigations......Page 38 Genetic Counseling......Page 39 Clinical Features......Page 41 Genetic Counseling......Page 42 Genetics/basic Defects......Page 45 Clinical Features......Page 46 Diagnostic Investigations......Page 47 References......Page 48 Clinical Features......Page 51 Diagnostic Investigations......Page 52 Genetic Counseling......Page 53 Genetics/basic Defects......Page 59 Genetic Counseling......Page 60 References......Page 61 Clinical Features......Page 65 Diagnostic Investigations......Page 66 Genetic Counseling......Page 67 References......Page 68 Clinical Features......Page 70 Genetic Counseling......Page 72 References......Page 73 Clinical Features......Page 79 References......Page 80 Clinical Features......Page 83 Diagnostic Investigations......Page 88 Genetic Counseling......Page 89 References......Page 90 Clinical Features......Page 93 Genetic Counseling......Page 94 References......Page 95 Genetics/basic Defects......Page 101 Diagnostic Investigations......Page 102 Genetic Counseling......Page 103 Clinical Features......Page 105 Diagnostic Investigations......Page 106 Genetic Counseling......Page 107 Genetics/basic Defects......Page 111 Clinical Features......Page 112 Diagnostic Investigations......Page 114 References......Page 115 Clinical Features......Page 117 Diagnostic Investigations......Page 118 References......Page 119 Clinical Features......Page 122 Genetic Counseling......Page 123 References......Page 124 Clinical Features......Page 126 References......Page 127 Diagnostic Investigations......Page 130 References......Page 131 Clinical Features (koeller, 1999)......Page 134 References......Page 135 Clinical Features......Page 138 Diagnostic Investigations......Page 139 Genetic Counseling......Page 140 Clinical Features......Page 143 References......Page 144 Genetic Counseling......Page 146 References......Page 147 Clinical Features......Page 149 Diagnostic Investigations......Page 151 Genetic Counseling......Page 152 References......Page 153 Clinical Features......Page 156 Diagnostic Investigations......Page 157 Clinical Features......Page 160 References......Page 161 Clinical Features......Page 164 Diagnostic Investigations......Page 165 Genetic Counseling......Page 166 Genetics/basic Defects......Page 168 Clinical Features......Page 170 Genetic Counseling......Page 171 References......Page 172 Genetics/basic Defects......Page 176 Clinical Features......Page 178 Diagnostic Investigations......Page 179 Genetic Counseling......Page 182 References......Page 183 Clinical Features......Page 187 Genetic Counseling......Page 188 References......Page 189 Diagnostic Investigations......Page 192 Genetic Counseling......Page 193 Genetics/basic Defects......Page 198 References......Page 199 Diagnostic Investigations......Page 202 Genetic Counseling......Page 203 Genetics/basic Defects......Page 205 Clinical Features......Page 206 Diagnostic Investigations......Page 207 Genetic Counseling......Page 208 References......Page 211 Clinical Features......Page 214 Diagnostic Investigations......Page 215 References......Page 216 Clinical Features......Page 219 References......Page 220 Diagnostic Investigations......Page 224 Genetic Counseling......Page 225 Genetics/basic Defects......Page 228 Clinical Features......Page 229 References......Page 230 Genetics/basic Defects......Page 234 Genetic Counseling......Page 235 References......Page 236 Clinical Features......Page 238 Diagnostic Investigations......Page 239 References......Page 240 Clinical Features......Page 243 Genetic Counseling......Page 244 References......Page 245 Genetics/basic Defects......Page 248 Clinical Features......Page 249 Diagnostic Investigations......Page 250 References......Page 251 Genetics/basic Defects......Page 254 Clinical Features......Page 255 Genetic Counseling......Page 256 References......Page 257 Clinical Features......Page 259 Diagnostic Investigations......Page 260 References......Page 261 Clinical Features......Page 263 Diagnostic Investigations......Page 264 References......Page 265 Genetics/basic Defects......Page 268 Diagnostic Investigations......Page 269 References......Page 270 Genetics/basic Defects......Page 272 Diagnostic Investigations......Page 273 Genetic Counseling......Page 274 References......Page 276 Diagnostic Investigations......Page 279 References......Page 280 Clinical Features......Page 282 Diagnostic Investigations......Page 283 Genetic Counseling......Page 284 Genetics/basic Defects......Page 288 Clinical Features......Page 289 Diagnostic Investigations......Page 290 References......Page 291 Clinical Features......Page 295 Genetic Counseling......Page 296 References......Page 297 Clinical Features......Page 301 Diagnostic Investigations......Page 303 Genetic Counseling......Page 304 References......Page 305 Clinical Features......Page 311 Genetic Counseling......Page 312 Genetics/basic Defects......Page 318 Clinical Features......Page 319 Genetic Counseling......Page 321 References......Page 322 Clinical Features......Page 329 References......Page 330 Genetics/basic Defects......Page 332 Clinical Features......Page 333 Genetic Counseling......Page 334 References......Page 335 Clinical Features......Page 337 Diagnostic Investigations......Page 338 Genetic Counseling......Page 339 References......Page 340 Genetic Counseling......Page 344 References......Page 345 Clinical Features......Page 347 Diagnostic Investigations......Page 350 References......Page 351 Diagnostic Investigations......Page 355 Genetic Counseling......Page 356 Clinical Features......Page 360 Diagnostic Investigations......Page 361 References......Page 362 Clinical Features......Page 365 Diagnostic Investigations......Page 366 Genetic Counseling......Page 367 References......Page 368 Clinical Features......Page 371 References......Page 373 Clinical Features......Page 375 Diagnostic Investigations......Page 376 Genetic Counseling......Page 377 Clinical Features......Page 380 Genetic Counseling......Page 382 References......Page 383 Clinical Features......Page 386 Genetic Counseling......Page 388 References......Page 389 References......Page 392 Clinical Features......Page 395 Diagnostic Investigations......Page 397 References......Page 398 Genetic Counseling......Page 401 References......Page 402 Genetics/basic Defects......Page 404 Clinical Features......Page 405 References......Page 406 Clinical Features......Page 409 Genetic Counseling......Page 410 References......Page 411 Genetic Counseling......Page 413 References......Page 414 Clinical Features......Page 416 Genetic Counseling......Page 417 References......Page 418 References......Page 421 Genetics/basic Defects......Page 423 Clinical Features......Page 424 Genetic Counseling......Page 425 References......Page 426 Genetics/basic Defects......Page 429 Genetic Counseling......Page 430 Genetic Counseling......Page 433 References......Page 434 Clinical Features......Page 437 References......Page 438 Clinical Features......Page 442 Diagnostic Investigations......Page 443 Genetic Counseling......Page 444 References......Page 445 Diagnostic Investigations......Page 447 Genetic Counseling......Page 448 Clinical Features......Page 451 Diagnostic Investigations......Page 452 Genetic Counseling......Page 453 References......Page 454 Clinical Features......Page 457 Genetic Counseling......Page 458 Clinical Features......Page 462 References......Page 463 Clinical Features......Page 466 Genetic Counseling......Page 467 References......Page 468 Clinical Features......Page 470 References......Page 471 Clinical Features......Page 474 Diagnostic Investigations......Page 475 References......Page 476 Genetic Counseling......Page 478 References......Page 479 Clinical Features......Page 481 Genetic Counseling......Page 483 References......Page 484 Clinical Features......Page 487 Diagnostic Investigations......Page 488 Genetic Counseling......Page 489 Clinical Features......Page 492 Genetic Counseling......Page 493 Genetics/basic Defects......Page 498 Clinical Features......Page 499 Diagnostic Investigations......Page 500 References......Page 501 Clinical Features......Page 507 Diagnostic Investigations......Page 508 References......Page 509 Genetics/basic Defects......Page 511 Clinical Features......Page 513 Genetic Counseling......Page 514 References......Page 516 Clinical Features......Page 518 Genetic Counseling......Page 519 Clinical Features......Page 522 Genetic Counseling......Page 523 Diagnostic Investigations......Page 526 References......Page 527 Clinical Features......Page 529 References......Page 530 Clinical Features......Page 533 Genetic Counseling......Page 534 References......Page 535 Clinical Features......Page 537 Diagnostic Investigations......Page 538 Genetic Counseling......Page 539 References......Page 540 Genetics/basic Defects......Page 543 Clinical Features......Page 544 Diagnostic Investigations......Page 545 References......Page 546 Clinical Features......Page 549 Genetic Counseling......Page 550 Clinical Features......Page 553 Genetic Counseling......Page 554 Diagnostic Investigations......Page 557 Genetic Counseling......Page 558 Clinical Features......Page 562 Diagnostic Investigations......Page 563 Clinical Features......Page 566 Genetic Counseling......Page 567 Clinical Features......Page 570 Genetic Counseling......Page 571 Clinical Features......Page 573 Diagnostic Investigations......Page 574 References......Page 575 Clinical Features......Page 578 Genetic Counseling......Page 579 Clinical Features......Page 583 Genetic Counseling......Page 584 References......Page 585 Clinical Features......Page 588 References......Page 589 Clinical Features......Page 592 References......Page 593 Clinical Features......Page 600 Genetic Counseling......Page 601 Clinical Features......Page 603 References......Page 604 Clinical Features......Page 607 Diagnostic Investigations......Page 608 Clinical Features......Page 616 Diagnostic Investigations......Page 617 References......Page 618 Clinical Features......Page 621 Diagnostic Investigations......Page 623 Genetic Counseling......Page 624 References......Page 625 Clinical Features......Page 632 Diagnostic Investigations......Page 633 Genetic Counseling......Page 634 References......Page 635 Diagnostic Investigations......Page 638 Genetic Counseling......Page 639 Genetics/basic Defects......Page 641 Diagnostic Investigations......Page 642 References......Page 644 Clinical Features......Page 648 Genetic Counseling......Page 649 References......Page 650 Clinical Features......Page 652 Genetic Counseling......Page 654 Clinical Features......Page 657 Genetic Counseling......Page 658 References......Page 659 Clinical Features......Page 662 Genetic Counseling......Page 663 Clinical Features......Page 666 Genetic Counseling......Page 667 Clinical Features......Page 671 Genetic Counseling......Page 673 References......Page 674 Clinical Features......Page 680 Genetic Counseling......Page 681 References......Page 682 Diagnostic Investigations......Page 684 Genetic Counseling......Page 685 Clinical Features......Page 689 References......Page 690 Clinical Features......Page 694 Genetic Counseling......Page 695 Diagnostic Investigations......Page 699 Genetic Counseling......Page 700 Genetic Counseling......Page 704 References......Page 705 Clinical Features......Page 710 Diagnostic Investigations......Page 712 References......Page 713 Genetic Counseling......Page 717 References......Page 718 Diagnostic Investigations......Page 720 References......Page 721 Clinical Features......Page 723 Genetic Counseling......Page 726 References......Page 727 Genetics/basic Defects......Page 733 Clinical Features......Page 734 Diagnostic Investigations......Page 737 Genetic Counseling......Page 738 References......Page 739 Clinical Features......Page 746 Genetic Counseling......Page 748 Clinical Features......Page 752 References......Page 753 Clinical Features......Page 756 Genetic Counseling......Page 757 Clinical Features......Page 759 Genetic Counseling......Page 760 Genetics/basic Defects......Page 763 Clinical Features......Page 764 Diagnostic Investigations......Page 765 Genetic Counseling......Page 766 References......Page 767 Clinical Features......Page 774 Diagnostic Investigations......Page 776 Genetic Counseling......Page 777 References......Page 778 Clinical Features......Page 781 Genetic Counseling......Page 782 Diagnostic Investigations......Page 784 Genetic Counseling......Page 785 Clinical Features......Page 788 Genetic Counseling......Page 789 References......Page 790 Clinical Features......Page 793 References......Page 794 Clinical Features......Page 797 Diagnostic Investigations......Page 798 References......Page 799 Clinical Features......Page 803 Diagnostic Investigations......Page 804 References......Page 805 Genetics/basic Defects......Page 809 Diagnostic Investigations......Page 810 References......Page 811 Clinical Features......Page 815 Diagnostic Investigations......Page 816 Genetic Counseling......Page 817 References......Page 818 Clinical Features......Page 821 Diagnostic Investigations......Page 822 Clinical Features......Page 826 References......Page 827 Clinical Features......Page 830 Genetic Counseling......Page 831 Clinical Features......Page 834 Genetic Counseling......Page 835 Genetics/basic Defects......Page 838 Diagnostic Investigations......Page 839 References......Page 840 Genetics/basic Defects......Page 843 Clinical Features......Page 844 Diagnostic Investigations......Page 845 References......Page 846 Clinical Features......Page 851 Genetic Counseling......Page 852 Clinical Features......Page 855 Diagnostic Investigations......Page 856 References......Page 857 Clinical Features......Page 859 Diagnostic Investigations......Page 860 References......Page 861 Clinical Features......Page 866 References......Page 867 Diagnostic Investigations......Page 869 Clinical Features......Page 873 Genetic Counseling......Page 874 References......Page 875 Genetics/basic Defects......Page 877 Diagnostic Investigations......Page 878 Genetic Counseling......Page 879 References......Page 880 Clinical Features......Page 883 Genetic Counseling......Page 884 References......Page 885 Clinical Features......Page 891 Diagnostic Investigations......Page 893 Genetic Counseling......Page 894 References......Page 896 Genetic/basic Defects......Page 898 Genetic Counseling......Page 899 Clinical Features......Page 902 Diagnostic Investigations......Page 903 References......Page 904 Genetics/basic Defects......Page 906 Clinical Features......Page 907 Genetic Counseling......Page 908 References......Page 909 Clinical Features......Page 911 Genetic Counseling......Page 912 Clinical Features......Page 915 Genetic Counseling......Page 916 Genetics/basic Defects......Page 920 Diagnostic Investigations......Page 921 References......Page 922 Clinical Features......Page 926 Diagnostic Investigations......Page 927 Genetic Counseling......Page 928 References......Page 929 Genetics/basic Defects......Page 933 Diagnostic Investigations......Page 934 Genetic Counseling......Page 935 Diagnostic Investigations......Page 938 Genetic Counseling......Page 939 Clinical Features......Page 941 References......Page 942 Clinical Features......Page 945 References......Page 946 Clinical Features......Page 948 Diagnostic Investigations......Page 949 Genetic Counseling......Page 950 References......Page 951 Clinical Features......Page 953 Diagnostic Investigations......Page 954 References......Page 955 Clinical Features......Page 960 Genetic Counseling......Page 962 Clinical Features......Page 965 Genetic Counseling......Page 966 Genetics/basic Defects......Page 970 Genetic Counseling......Page 971 Clinical Features......Page 974 Diagnostic Investigations......Page 975 References......Page 976 Clinical Features......Page 980 Genetic Counseling......Page 981 Clinical Features......Page 983 Genetic Counseling......Page 984 References......Page 985 Clinical Features......Page 988 Diagnostic Investigations......Page 989 Genetic Counseling......Page 990 References......Page 991 Clinical Features......Page 995 Genetic Counseling......Page 998 References......Page 999 Clinical Features......Page 1005 Diagnostic Investigations......Page 1006 Genetic Counseling......Page 1007 References......Page 1008 Clinical Features......Page 1013 Diagnostic Investigations......Page 1014 References......Page 1016 Diagnostic Investigations......Page 1018 References......Page 1019 Clinical Features......Page 1021 References......Page 1022 Clinical Features......Page 1025 Diagnostic Investigations......Page 1027 Genetic Counseling......Page 1028 Clinical Features......Page 1031 References......Page 1032 Genetics/basic Defects......Page 1036 Diagnostic Investigations......Page 1037 References......Page 1038 Clinical Features......Page 1043 References......Page 1045 Clinical Features......Page 1052 Genetic Counseling......Page 1053 References......Page 1056 Diagnostic Investigations......Page 1059 References......Page 1060 Clinical Features......Page 1063 Genetic Counseling......Page 1064 Clinical Features......Page 1066 References......Page 1067 Diagnostic Investigations......Page 1070 This Book, Atlas Of Genetic Diagnosis And Understanding Of These Conditions And Their Care Of Counseling, Reflects My Experience In 38 Years Of Affected Individuals And Their Families. It Is Also My Clinical Genetics Practice. During This Time, I Have Intention To Bring The Basic Science And Clinical M- Cared For Many Patients And Their Families And Taught Icine Together For The Readers. Atlas Of Genetic Innumerable Medical Students, Residents, And Prac- Diagnosis And Counseling Is Designed For Physicians Ticing Physicians. As An Academic Physician, I Have Involved In The Evaluation And Counseling Of Patients Found That A Picture Is Truly “worth A Thousand With Genetic Diseases, Malformations, And Malfor- Words,” Especially In The Field Of Dysmorphology. Tion Syndromes, Including Medical Geneticists, Over The Years, I Have Compiled Photographs Of My Genetic Counselors, Pediatricians, Neonatologists, Patients, Which Are Incorporated Into This Book To Developmental Pediatricians, Perinatologists, Obs- Illustrate Selected Genetic Disorders, Malformations, Tricians, Neurologists, Pathologists, And Any Phy- And Malformation Syndromes. A Detailed Outline Of Cians And Health Care Professionals Caring For Each Disorder Is Provided, Describing The Genetics, Handicapped Children Such As Craniofacial Surgeons, Basic Defects, Clinical Features, Diagnostic Investiga- Plastic Surgeons, Otolaryngologists, And Orthopedics. Tions, And Genetic Counseling, Including Recurrence I Am Grateful To Many Individuals For Their Risk, Prenatal Diagnosis, And Management. Color Invaluable Help In Reading And Providing Cases For Photographs Are Used To Illustrate The Clinical Fea- Illustration. Harold Chen, MD, shares his almost 40 years of clinical genetics practice in a comprehensive pictorial atlas of 203 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available. The Atlas of Genetic Diagnosis and Counseling will help all physicians to understand and recognize genetic diseases and malformation syndromes and better evaluate, counsel, and manage affected patients. Also available in a CD-ROM edition (ISBN: 1-58829-974-5). 'A comprehensive pictorial atlas of 203 genetic disorders, malformations, and malformation sydromes. Provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies'--Page 4 of cover "A comprehensive pictorial atlas of 203 genetic disorders, malformations, and malformation sydromes. Provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies"--Back cover