BIRTH DEFECTS COMPENDIUM Second Edition BIRTH DEFECTS COMPENDIUM Second Edition Editor Daniel Bergsma, MD, MPH Clinical Professor of Pediatrics Tufts University, School of Medicine Boston, Massachusetts * * * M Palgrave Macmillan ©The National Foundation 1973,1979 Softcover reprint of the hardcover 1st edition 1979 978-0-333-27876-5 All rights reserved. No part of this publication may be reproduced or transmitted, in any form or by any means, without permission. First published in the U.S.A. 1973, as Birth Defects Atlas and Compendium, by The Williams and Wilkins Company. Reprinted 1973,1974. Second Edition, published by Alan R. Liss, Inc., 1979. First published in the United Kingdom 1979 by THE MACMILLAN PRESS LTD London and Basingstoke Associated companies in Delhi Dublin Hong Kong Johannesburg Lagos Melbourne New York Singapore and Tokyo ISBN 978-1-349-05133-5 ISBN 978-1-349-05131-1 (eBook) DOI 10.1007/978-1-349-05131-1 Views expressed in articles published are the authors', and are not to be attributed to The National Foundation or its editors unless expressly so stated. To enhance medical communication in the birth defects field, The National Foundation has published the Birth Defects Atlas and Compendium, Syndrome ldentification, Original Article Series and developed a series of films and related brochures. Further information can be obtained from: The National Foundation- March of Dimes 1275 Mamaroneck Avenue White Plains, New York 10605 This book is sold subject to the standard conditions of the Net Book Agreement. DEDICATED To each dear little child who is in need of special help and care: to each eager parent who is desperately, hopefully seeking help: to each professional who brings understanding, knowledge and skillful care: to each generous friend who assists The National Foundation to help. D. B. Preface Birth defects by whatever definition exhibit noteworthy additional English language terms or names were also se­ variety or complexity, and often overlap. Indeed the over­ lected and provided to assist the individual seeking informa­ lap also frequently involves the areas of concern of two or tion to find the data desired by use of a presently familiar more medical specialties. Collectively, the diagnosis, treat­ index term. All other alphabetized indexed information is ment and genetic counseling associated with birth defects provided as an aid to differential diagnosis. Accordingly, ad­ involve the areas of interest and concern of all health pro­ ditional index subject headings relate to anatomic parts, fessionals. Accordingly, recorded information about birth signs or symptoms. defects is widely scattered in multiple journals and books The combination "and/or" is rarely used in the text. The under literally thousands of different names. Even with word "or" is used to include either or both. When mutual good library resources available, a select bit of information exclusion is intended, alternate wording is usually employed about a given birth defect is often very difficult and time­ such as "either a or b." consuming to obtain. If the desired bit of data is unknown, For increased clarity of meaning, the same wording is and hence unrecorded, the total search effort becomes usually used to relay information about risk of recurrence wasted time. to a patient's sib or child when the defect is being trans­ Accordingly, this Compendium was designed to assemble mitted by a specific mode of mendelian inheritance. This is the more commonly sought after information about birth summarized in Table 1, Section III. Furthermore, for econ­ defects in a standardized format for the convenience of omy of space and of printing cost, a reference is made to students and practitioners of the health professions. De­ Table I when two or more modes of mendelian transmission sired data can usually be found under specific subheadings are known, or are thought to occur, for the related defects which have a constant sequence for easier reference. When included in the syndrome. As supplemental etiologic data only fragments of data were available these are provided certain references to McKusick's Mendelian Inheritance in without further comment; expert opinion is distinguished Man were included, eg McK *----------. from confirmed data and, when no information was cur­ Certain few birth defects have been presented with the rently available, a simple "?"is inserted for clarity, brevity data based upon a single case or kindred identified to date. and certainty, and also as a kind of index of the clinical re­ Experience has shown that not infrequently additional pa­ search that perhaps should be performed. tients with the same or very similar syndrome defects are For the purpose of this Compeodium the term "Birth identified by other c1inicians once the syndrome has been Defects" includes any anatomic or functional variant from given initial description. the normal range in homo sapiens which is inherited by any Our knowledge of birth defects is such that some present mendelian mode of transmission, or caused by fresh muta­ syndrome complexes will one day certainly be recognized tion, any chromosomal abnormality, or by any infectious, as two or more biochemically specific types, some over­ chemical or physical insult to the embryo or fetus prior to lapping phenotypes may later be shown to be a single entity birth. as more patients are studied in depth, and surely some as Certain markers, themselves not birth defects, are in­ yet unidentified birth defects will be defined. cluded because their genetic transmission is 'known; they Certain birth defects or syndrome types, by present may be distinguished as occurring independently; may be knowledge, are so phenotypically similar that they are pre­ associated with certain birth defects; or may affect a pa­ sented as single entries in this Compendium. This not only tient's reaction to medication. reduced cost but also emphasized the known differences by For the convenience of physicians who normally use their juxtaposition within the write-up. French, German or Spanish as their primary language, the Each birth defect textual presentation in Section 11 has most commonly used other language name for most birth its own Birth Defect Compendium Number which is placed defects and markers described in this Compendium is pre­ at the top left above the selected English primary name for sented under the subtitle "'Includes" in the text and is also that birth defect. It will be observed that these numbers placed alphabetically in the index. The second language were assigned as in the I st Edition in numerical sequence term was omitted for economic reasons when it was so after the selected primary birth defect names were alpha­ similar that it was essentially identical. Usually one or more betized. This permits one to find data about a birth defect vi Preface vii directly in Section II by either its prime name or its Com­ work-up in search of possible significant internal defects. pendium Birth Defect Number. For convenience, in the in­ Similarly a single major defect in a neonate, such as the pre­ dex, each English primary name is in capital letters and sence of only one umbilical artery, requires careful study followed only by its Compendium Birth Defect Number. for possible systemic involvement. Clinicians dealing with a wide spectrum of birth defects, In certain instances promised textual material did not in the absence of both suitable classification and satisfacto­ arrive by publication date. It is planned that these and new ry nomenclature, have expressed a strong desire for a "Per­ birth defect research data will continually be added to the manent" Birth Defect Number with which to code each computer bank and be available day or night by a telephone birth defect in their files. Such a "more permanent" num­ coupled terminal. ber is provided in the Compendium. We utilized a number The pictorial display in Section I, which includes I 08 span of one million and assigned numbers so as to permit pictures in color will hopefully help students in the health alphabetic inclusion not only of all current birth defects professions to identify certain defects more readily and ac­ but also provided interval spaces for subsequent alphabet­ curately. The textual part of this Compendium (Section II) ized entries. Each such "more permanent" number was des­ is provided to indicate the abnormalities which are part of, ignated between 000-001 and 999-999. These new num­ derived from, or associated with each birth defect. A total bers may be useful in computer programming as well as for of 392 black and white pictures or drawings are also pre­ individual files. In Section II the "more permanent" num­ sented to aid in differential diagnosis. ber for each birth defect has been placed at the top right 425 authors from 24 countries, 21 Assistant and 22 As­ above the selected primary name for that birth defect. sociate Editors helped to assemble the data compiled in Tables and diagrams or drawings were provided in Sec­ this opus. They alone deserve all the credit for the useful tion III to supplement or interrelate certain data contained data contained herein. The Compendium editor initially in the text or index, eg Table II identifies 90 "Metabolic dreamed of the concept involved and then coordinated the Disorders Where Specific Enzyme Defects Have Been De­ overall effort to achieve this product. Each constructive sug­ scribed," and Table XXIV provides Compendium Birth gestion by any expert will be carefully and seriously con­ Defect Number references not only for the Eye as a unit sidered and, as may be feasible, such desired improvements but also for Vision, Nystagmus, Retinal Involvement, etc. will be incorporated promptly into the computer informa­ Perpetual clinical curiosity and astute observations are tion retrieval system. necessary to detect many birth defects. With time this may The text of this Compendium was set by computer.