Congenital Hand Anomalies and Associated Syndromes Ghazi M. Rayan • Joseph Upton III Congenital Hand Anomalies and Associated Syndromes Editors Ghazi M. Rayan Joseph Upton III INTEGRIS Baptist Medical Center Chestnut Hill, USA Orthopaedic Surgery – Hand Oklahoma City, USA ISBN 978-3-642-54609-9 ISBN 978-3-642-54610-5 (eBook) DOI 10.1007/978-3-642-54610-5 Library of Congress Control Number: 2014946208 Springer © Springer-Verlag Berlin Heidelberg 2014 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the mate- rial is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter devel- oped. 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Product liability: The publishers can not guarantee the accuracy of any information about dosage and application contained in this book. In every individual case the user must check such information by consulting the relevant literature. Printed on acid-free paper Springer is part of Springer Science+Business Media www.springer.com Preface I I first became interested in syndromic hand anomalies in 1980 when I was a hand surgery fel- low at the Raymond Curtis Hand Center in Baltimore. A patient was brought to the US from Afghanistan with a case of Klippel-Trenaunay-Webber syndrome. The patient had grotesque overgrowth of her hands and upper extremities with her fingertips reaching her knees while standing. My mentor Dr. Raymond Curtis consulted Dr. Victor McKusick, a geneticist from John Hopkins Hospital in Baltimore, who graciously came to Memorial hospital to examine the patient and gave us a fascinating impromptu lecture on the syndrome. When my career in hand surgery was launched in Oklahoma City I was fortunate to treat a prodigious number of children with congenital hand differences and various syndromes. Whenever I encountered a mysterious syndromic hand The Genetics of Hand Malformations book by Timtamy and McKusick came to the rescue. I initially thought of and began preparing this book more than 12 years ago. In March 2000 I contacted Dr. McKusick to inquire whether he was planning to update his book and to gauge his interest in providing guidance or collaboration with me on a new publication on syndromic hand anomalies. He informed me that he had no plans to update his book and urged me to proceed with publishing my book and offered to give me advice along the way. In 2008 Dr. McKusik passed away and I felt that I owed it to him to complete this project. Hence in that year I began writing this book. I approached Dr. Joseph Upton in 2011 asking him whether he would like to collaborate on the book, offering both his expertise and extensive photo library of many of the syndromes, and fortunately he agreed immediately because the book’s subject is also of special interest to him. Acquiring an awareness of the most common congenital hand and upper extremity anomalies and the numerous syndromes that may be associated with them is a daunting task for the physi- cian and other health professionals. To the surgeon who manages upper extremity problems, syndromes are viewed as an abstruse subject and the eponyms associated with them are most intimidating. The pediatricians and geneticists who care for children with syndromic conditions are usually unfamiliar with the intricacies of hand anomalies, the terminologies associated with them, and the various classifications of congenital hand and upper extremity conditions from a surgeon’s perspective. Physicians embarked on training programs of many medical and surgi- cal specialties are required to be familiar with syndromic upper extremity disorders and often encounter related questions in their in-training and specialty board examinations. The purpose of this publication is to describe the most common congenital hand and upper limb anomalies and the relevant syndromes encountered with each of these anomalies in a clini- cal practice. Awareness of these associations is important for improving care of the syndromic child. This book is designed to be a reference for practicing physicians, therapists, residents, and fellows of different specialties including but not limited to genetics, pediatrics, internal medicine, and surgical disciplines such as hand, orthopedic, and plastic surgery. It can be a helpful guide for medical students as well. This publication is organized into seven anatomical categories including; tumors/dissemi- nated, elbow, forearm/wrist, hand, thumb, digits, and skin. Within each of these main categories the most frequently encountered congenital hand and upper extremity differences are described. v vi Preface I For each of the hand anomalies the book describes the most common associated syndromes. The result is 37 congenital hand and upper extremity differences and more than 127 syndromes which are discussed in a systematic and easy-to-follow format. The information presented herein is derived from numerous sources including: articles in the literature, the Online Mendelian Inheritance of Man (OMIM) database, the landmark textbook The Genetics of Hand Malformations (1978) by Temtamy and McKusick, and the book Smith’s Recognizable Patterns of Human Malformations (2005) by Jones. There is no current, concise reference for syndromic hand and upper extremity conditions. Temtamy and McKusick’s work was published over 30 years ago and, although unique at the time and still a classic today, some of its material is no longer current. New knowledge has evolved about congenital hand and upper extremity anomalies and numerous new syndromes have been described in the interim. We intend for this book to fill that gap and become a refer- ence for practitioners, teachers, and learners who seek to understand and recognize patients with syndromic congenital hand conditions. Ghazi Rayan MD Preface II The study of congenital differences of the upper limb is a dynamic field in transition. No two hands are enantiomorphic and there are so many variations within each particular group or subgroup of anomalies that it is difficult to make much sense from what we know about each. Molecular analysis is providing insight into the mechanisms of malformation without much clinical relevance to date. In no other field of medicine and surgery are there so many classification systems. Each week or month new syndromes are being described, most of which are labeled with nondescriptive eponyms that may be defined by the particular bias of the treating physician. For example, a child with the Poland syndrome means a chest wall deformity and no pectoralis muscle to the pediatric or thoracic surgeon, a symbrachydactyly to the hand surgeon, and a breast a/hypoplasia to the plastic surgeon. In an academic setting some use syndrome recognition to exercise their intellectual prowess during rounds or in conferences. However, the identification of a particular syndrome and all associated anomalies is of critical importance to the physicians, consultants, and families involved with these children. This field is always changing and like medical spe- cialty board examinations where the questions from one year to the next are usually the same, only the answers change. My interest in hand surgery was kindled when I browsed through an impressive red book written by H. Kelikian, who had devoted his entire career to the description and treatment of congenital limb anomalies. As a first year medical student I didn’t know that hand surgery ex- isted as a specialty and stood in complete awe of these complex problems. Radial club hands or cleft hands seemed to be experiments in Nature beyond explanation let alone treatment. After almost four decades as a pediatric hand surgeon my book shelf contains most if not all that has been written on the subject; the most battered textbooks in need of more duck tape are (left to right) Congenital Deformities of the Hand and Forearm by H. Kelikian, The Genetics of Hand Malformations by Samia Temtamy and Victor McKusick, The Growing Hand by Amit Gupta, Simon Kay, and Luis Scheker, The Hand in Radiologic Diagnosis: With Gamuts and Pattern Profiles by Andrew Poznanski, Smith’s Recognizable Patterns of Human Malformation by Kenneth Jones, Congenital Malformations of the Hand and Forearm by Buck-Gramcko, and Plastic Surgery, four editions with the latest Volume 8 edited by Steve Mathes and Rod Hentz, and finally Vascular Anomalies by John Mulliken, Pat Burrows, and Steve Fishman. These books had become the major references for me in the treatment of syndromic children seen on an almost daily basis. I was delighted when Dr. Rayan asked me to contribute to this textbook. When asked if I had seen many of the 100 syndromes with hand anomalies, my answer was “Yes, just about all of them.” Fortunately, I had taken pictures of most. vii viii Preface II Compiled by two practicing hand surgeons this book is intended as a reference for those studying or treating these children.