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THE SYNDROME BLUEPRINT: A Paediatrician’s Guide
| Author/Editor : | Dr. Abhijit Shinde, Dr. Neha Khadke, Prof. Mhaske Sunil Natha |
|---|---|
| Pages : | 457 |
| Specialty : | Pediatrics |
| Book Type : | Academic & Professional |
The Syndrome Blueprint: A Paediatrician’s Guide is a visually rich and system-wise compendium of paediatric syndromes, designed for clinicians, students, and enthusiasts in medical genetics and child health. This one-of-a-kind book blends science with storytelling, bringing the world of syndromes to life in a way that is both educational and engaging. It begins by tackling myths and misconceptions—those widespread misunderstandings that often cloud the accurate recognition and management of both well-known and rare syndromes. By clarifying these myths, the book encourages a more accurate, evidence-based approach to clinical thinking.
To support learning and retention, the book incorporates mnemonics—clever, easyto-remember cues designed to aid in rapid recall and help streamline clinical diagnosis.
These tools make even the most complex syndromes more approachable for students and clinicians alike.
The book also takes readers on a journey through historical aspects of syndromology, offering insight into the origins of syndrome discovery and the pioneering individuals who first described them. This historical context enriches the reader’s appreciation of how these syndromes came to be recognised and understood over time.
The content is presented using a systemwise classification, with syndromes grouped anatomically and functionally for easier reference. This structure allows for quick look-up during clinical rounds or focused study sessions, enhancing the book’s usability in both practical and academic settings.
Finally, the book maintains a strong paediatric focus, with special emphasis on neonatal and childhood presentations. It highlights age-specific diagnostic clues and common differentials, ensuring that the content remains clinically relevant to those working in paediatrics, neonatology, and genetic medicine.
Whether you’re a paediatrician, genetics resident, or MBBS student, this book offers a clinical yet artistic lens into the blueprint of human syndromes — a guide not just to diagnosing, but to understanding the stories hidden in our genes.
SECTION 1: NERVOUS SYSTEM
Chapter 1: Guillain–Barré Syndrome 1
Chapter 2: Tourette Syndrome 4
Chapter 3: Restless Legs Syndrome 7
Chapter 4: Fragile X Syndrome 10
Chapter 5: RETT Syndrome 13
Chapter 6: Angelman Syndrome 16
Chapter 7: Horner Syndrome 19
Chapter 8: Arnold-Chiari Malformation Syndrome 22
Chapter 9: Prader-Willi Syndrome 26
Chapter 10: Kearns-Sayre Syndrome 30
Chapter 11: Moebius Syndrome 34
Chapter 12: Miller Fisher Syndrome 39
Chapter 13: West Syndrome 43
Chapter 14: Lennox-Gastaut Syndrome 47
Chapter 15: Dravet Syndrome 51
Chapter 16: Nodding Syndrome 56
Chapter 17: Opsoclonus-Myoclonus Syndrome 61
Chapter 18: Aicardi Syndrome 65
Chapter 19: Charcot-Marie-Tooth Disease 69
Chapter 20: Dandy-Walker Syndrome 73
Chapter 21: Paraneoplastic Neurological Syndromes 76
Chapter 22: Stiff-Person Syndrome 79
Chapter 23: Cerebral Salt Wasting Syndrome 82
Chapter 24: Marfan Syndrome 85
Chapter 25: Long QT Syndrome 88
Chapter 26: Ebstein’s Anomaly Syndrome 91
Chapter 27: PHACE Syndrome 94
Chapter 28: Post-Coarctectomy Syndrome 97
Chapter 29: Bland-White-Garland Syndrome 100
Chapter 30: Hypoplastic Left Heart Syndrome 103
Chapter 31: Short QT Syndrome 107
SECTION 2: RESPIRATORY SYSTEM
Chapter 32: Kartagener Syndrome 111
Chapter 33: Neuroendocrine Cell Hyperplasia of Infancy (NEHI) 114
Chapter 34: Antitrypsin Deficiency Syndrome 117
Chapter 35: Swyer-James Syndrome 121
Chapter 36: Mendelson Syndrome 125
Chapter 37: Goodpasture Syndrome 129
SECTION 3: GASTROINTESTINAL SYSTEM
Chapter 38: Zollinger-Ellison Syndrome 135
Chapter 39: Peutz-Jeghers Syndrome 139
Chapter 40: Short Bowel Syndrome 143
Chapter 41: Gardner Syndrome 147
Chapter 42: Dubin-Johnson Syndrome 151
Chapter 43: Crigler-Najjar Syndrome 155
Chapter 44: Gilbert Syndrome 159
Chapter 45: Alagille Syndrome 163
SECTION 4: RENAL AND UROGENITAL SYSTEM
Chapter 46: Alport Syndrome 168
Chapter 47: Prune Belly Syndrome 171
Chapter 48: Bartter Syndrome 174
Chapter 49: Gitelman Syndrome 178
Chapter 50: Denys-Drash Syndrome 181
Chapter 51: Fanconi Syndrome 184
Chapter 52: Fanconi Syndrome 188
Chapter 53: Nephrotic Syndrome 191
Chapter 54: Nephritic Syndrome 195
SECTION 5: MUSCULOSKELETAL SYSTEM
Chapter 55: Ehlers-Danlos Syndrome 199
Chapter 56: Klippel-Feil Syndrome 202
Chapter 57: Proteus Syndrome 205
Chapter 58: McCune-Albright Syndrome 208
Chapter 59: Poland Syndrome 211
Chapter 60: Holt-Oram Syndrome 214
Chapter 61: Larsen Syndrome 217
Chapter 62: Osteogenesis Imperfecta 220
SECTION 6: ENDOCRINE SYSTEM
Chapter 63: Cushing’s Syndrome 224
Chapter 64: Polyglandular Autoimmune Syndrome (PAS) 228
Chapter 65: Wolfram Syndrome 231
Chapter 66: Carney Complex 234
Chapter 67: Multiple Endocrine Neoplasia (MEN) Syndrome (Types I, II, III) 237
Chapter 68: Kallmann Syndrome 240
SECTION 7: HAEMATOLOGICAL SYSTEM
Chapter 69: Wiskott-Aldrich Syndrome (WAS) 244
Chapter 70: Diamond-Blackfan Anaemia (DBA) 248
Chapter 71: Haemolytic Uraemic Syndrome (HUS) 252
Chapter 72: Von Willebr and Disease (VWD) 256
Chapter 73: May-Hegglin Anomaly (MHA) 260
Chapter 74: Gray Platelet Syndrome (GPS) 263
Chapter 75: Evans Syndrome 266
SECTION 8: IMMUNE SYSTEM
Chapter 76: DiGeorge Syndrome 271
Chapter 77: Hyper-IgE Syndrome 274
Chapter 78: Chronic Granulomatous Disease Syndrome (CGD) 277
Chapter 79: Chediak-Higashi Syndrome 280
Chapter 80: Complement Deficiency Syndromes 283
Chapter 81: Kikuchi-Fujimoto Syndrome 286
SECTION 9: SKIN AND DERMATOLOGICAL SYNDROMES
Chapter 82: Stevens-Johnson Syndrome (SJS) 290
Chapter 83: Sturge-Weber Syndrome (SWS) 293
Chapter 84: Toxic Epidermal Necrolysis (TEN) 296
Chapter 85: Neurofibromatosis Type 1 (NF1) 299
Chapter 86: Neurofibromatosis Type 2 (NF2) 303
Chapter 86: Darier Disease Syndrome 306
Chapter 87: Gorlin Syndrome 309
Chapter 88: Harlequin Ichthyosis 312
SECTION 10: GENETIC AND CHROMOSOMAL SYNDROMES
Chapter 89: Down Syndrome 316
Chapter 90: Edwards Syndrome (Trisomy 18) 319
Chapter 91: Patau Syndrome (Trisomy 13) 322
Chapter 92: Cri-du-chat Syndrome 325
Chapter 93: Smith-Magenis Syndrome 328
Chapter 94: Williams Syndrome 331
Chapter 95: Cornelia de Lange Syndrome 334
Chapter 96: Ataxia-Telangiectasia Syndrome 337
Chapter 97: Turner Syndrome 340
Chapter 98: Klinefelter Syndrome 343
Chapter 99: Pompe Disease Syndrome 346
Chapter 100: Niemann-Pick Disease Syndrome 349
Chapter 101: Homocystinuria Syndrome 352
Chapter 102: Tay-Sachs Syndrome 355
Chapter 103: Phenylketonuria (PKU) Syndrome 358
Chapter 104: Maple Syrup Urine Disease (MSUD) Syndrome 361
Chapter 105: Gaucher Syndrome 364
Chapter 106: MELAS Syndrome 367
Chapter 107: Metabolic Syndrome 370
SECTION 11: OPHTHALMOLOGIC SYNDROMES
Chapter 108: Usher Syndrome 374
Chapter 109: Stickler Syndrome 377
Chapter 110: Bardet-Biedl Syndrome (BBS) 380
Chapter 111: Axenfeld-Rieger Syndrome (ARS) 383
Chapter 112: Aniridia 386
Chapter 113: Oculocutaneous Albinism (OCA) 389
SECTION 12: AUDITORY SYSTEM
Chapter 114: Waardenburg Syndrome 392
Chapter 115: Pendred Syndrome 395
Chapter 116: Branchio-Renal Syndrome 398
Chapter 117: Jervell and Lange-Nielsen Syndrome (JLNS) 402
Chapter 118: Treacher Collins Syndrome (TCS) 405
Chapter 119: Alström Syndrome 408
Chapter 120: Charge Syndrome 411
Chapter 121: Goldenhar Syndrome 414
Chapter 122: Mondini Dysplasia 417
SECTION 13: INFECTIOUS DISEASE
Chapter 123: Reye Syndrome 421
Chapter 124: Paediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS) 424
Chapter 125: Post-COVID Syndrome (Paediatric Multisystem Inflammatory Syndrome - PIMS / MIS-C) 427
Chapter 126: Toxic Shock Syndrome (TSS) 430
Chapter 127: Cytokine Storm Syndrome (CSS) 433
Dr. Abhijit Shinde is Associate Professor of Paediatrics at Dr. Vithalrao Vikhe Patil Medical College, Ahilyanagar. He holds an MD in Paediatrics and a fellowship in Neonatology, with a strong focus on neonatal care and academic excellence. Dr. Shinde has authored two books on paediatric nephrology and holds 4 registered copyrights. With over 60 publications across national and international journals, he actively contributes to paediatric research and education. He serves on editorial boards, mentors undergraduate and postgraduate students, and plays key roles in curriculum and quality assurance committees. Recipient of the Best Paediatric Teacher Award by IAP Ahmednagar (2023), he is widely appreciated for his teaching and leadership. Dr. Shinde is also actively involved in various social health activities.
Dr. Neha Khadke is a Junior Resident in the Department of Paediatrics at Dr. Vithalrao Vikhe Patil Medical College and Hospital, Ahilyanagar. She is known for her keen interest in learning, strong clinical acumen, and a growing passion for paediatric research. With a natural ability to simplify complex concepts, Dr. Khadke is deeply committed to making medical knowledge accessible and clear. She aspires to deliver compassionate, high-quality patient care and continually strives to grow as a clinician and academician. She has presented award-winning work at national, international, and local paediatric conferences.
Prof. Dr. Mhaske Sunil Natha, M.B.B.S., M.D. (Paediatrics), Ph.D. (Paediatrics), M.B.A. (Hospital Administration), M.A. (Public Administration), M.A. (Clinical Psychology), is the Dean and Professor of Paediatrics at Dr. Vithalrao Vikhe Patil Foundation's Medical College and Hospital, Ahilyanagar. A dynamic academician, Prof. Dr. Mhaske has authored numerous books, published a wealth of research articles, and holds several copyrights and patents, reflecting his commitment to scholarly innovation. As a passionate teacher and mentor, he has been honoured with prestigious accolades including the MUHS Best Teacher Award, Dr. Sharadini Dahanukar Best of Best Teacher Award, and the National Best Medical Teacher Award by the Indian Medical Association. His pioneering initiative, the Museum of Learning in Paediatrics, stands as a unique educational resource in his department. Dr. Mhaske actively contributes to academic councils and research bodies across various universities. With a deep fascination for the history and origins of paediatrics, he brings context and curiosity to his teaching and simplifies complex topics through engaging digital content, including his educational YouTube channel.
Subject Category : Pediatrics
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