Clinical Genetics Keya Lahiri, Mamta N Muranjan
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1Clinical Genetics
2Clinical Genetics
Chief Editor Keya Lahiri MD, DCH Professor and Head Department of Pediatrics SETH GS Medical College KEMH Mumbai Co-editor Mamta N Muranjan MD, DCH Associate Professor Department of Pediatrics SETH GSMC and KEMH Mumbai
3Published by
Jitendar P Vij
Jaypee Brothers Medical Publishers (P) Ltd
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Clinical Genetics
© 2005, Keya Lahiri, Mamta N Muranjan
All rights reserved. No part of this publication should be reproduced, stored in a retrieval system, or transmitted in any form or by any means: electronic, mechanical, photocopying, recording, or otherwise, without the prior written permission of the editors and the publisher.
First Edition: 2005
9788180614743
Typeset at JPBMP typesetting unit
Printed at Replika Press Pvt. Ltd.
4Contributors
  • Rinku Aggarwal
  • MD
  • Senior Resident
  • Department of Pediatrics
  • KEMH, Mumbai
  • Sandeep B Bawdekar
  • MD DCH
  • Professor
  • Department of Pediatrics
  • KEMH, Mumbai
  • Arjun Chavan
  • Senior Resident
  • Department of Pediatrics
  • KEMH, Mumbai
  • M Chavarkar
  • MD DCH
  • Ex Lecturer
  • Department of Pediatrics
  • TN Med College
  • BYL Nair Ch Hospital, Mumbai
  • Chandrahas T Deshmukh
  • MD DCH DNB
  • Professor
  • Department of Pediatrics
  • KEMH, Mumbai
  • Archana Kher
  • MD DCH
  • Associate Professor
  • Department of Pediatrics
  • Nair Hospital, Mumbai
  • Nilima A Kshirsagar
  • MD DNB PhD MNAMS
  • Dean, Professor and Head
  • Department of Clinical Pharmacology
  • Seth GSMC and KEMH, Mumbai
  • Karobi Lahiri
  • DOMS MS OPHTHAL
  • FCPS DNB FMRF
  • Fellow of Shankar Netralaya
  • Vitreoretinal Consultant
  • Pediatric Ophthalmologist
  • Bombay Hospital, Mumbai
  • Keya Lahiri
  • MD DCH
  • Professor and Head
  • In charge Genetic Division
  • Department of Pediatrics
  • KEMH, Mumbai
  • Murlidhar D Mahajan
  • MD DCH DNB MNAMS
  • Lecturer
  • Department of Pediatrics,
  • KEMH, Mumbai
  • Sheetal Mhamunkar
  • Chief Dietician
  • Seth GSMC and KEMH, Mumbai
  • Mamta N Muranjan
  • MD DCH
  • Associate Professor
  • Department of Pediatrics
  • KEMH, Mumbai
  • C Patankar
  • Resident
  • Department of Pediatrics
  • TNMC, BYL Nair Ch. Hospital,
  • Mumbai
  • Mandar Pawar
  • Senior Resident
  • Department of Pediatrics
  • KEMH, Mumbai
  • 5Sandipan Sabde
  • Sr Resident
  • Department of Pediatrics
  • KEMH, Mumbai
  • Nalini S Shah
  • MD DM
  • Professor and Head
  • Department of Endocrinology
  • Seth GSMC and KEMH, Mumbai
  • C Sujit
  • MD
  • Senior Resident
  • Department of Endocrinology
  • KEMH, Mumbai
  • Parag Mohan Tamhankar
  • MBBS
  • 2nd year Resident
  • Department of Pediatrics, KEMH, Mumbai
  • Milind S Tullu
  • MD DCH DNB FCPS
  • Lecturer
  • Department of Pediatrics,
  • KEMH, Mumbai
  • Rajwanti K Vaswani
  • MD
  • Associate Professor
  • Department of Pediatrics
  • KEMH, Mumbai
6Peface
“It's all in the genes”. Genetics, an extremely fascinating subject, finds itself at the forefront of widespread media,public and scientific attention. A fathomless ocean, the more we dive the more secrets we reveal.
We at The Pediatric Research Clinic, Department of Pediatrics, Seth GS Medical College and King Edward the VII Memorial Hospital, Mumbai have made a sincere attempt to ‘decode’ the intricate genetic principles in our 1st Edition of this book. While this text is designed primarily for the undergraduates and postgraduates confronted by taxing medical examinations, it is hoped that it will also find favor among the more experienced students, counsellors, and practicing clinicians, who are keen to keep abreast of progress in this rapidly developing and changing field.
‘What the mind doesn't know the eyes don't see’. This book is also meant to highlight approaches to common clinical problems in genetics seen by practicing pediatricians in their day to day practice, so as to think of these conditions leading to early referrals and appropriate therapy.
I especially thank Dr Mamta N Muranjan for her extremely valuable suggestions and views and Dr Parag M Tamhankar for the efficient groundwork.
We look forward to the readers for feedback as to how better our future editions can fulfill their needs.
Dedicated to the root of it all; the good, the bad, the beautiful and the ugly: THE GENE.
Keya Lahiri
7Acknowledgement
The authors wish to thank Dr Nilima A Kshirsagar, Dean Seth GS Medical College and KEM Hospital, Mumbai for providing us with the impetus and inspiration to complete this book. She not only permitted us to gather the necessary data to shape this book but chipped in with an very interesting article on pharmacogenetics. Truly her contribution has laid the foundation stone for our success.8