Author

Jones, Kenneth Lyons

Edition

6th ed.

Place of Publication

Philadelphia, PA

Publisher

Elsevier Saunders

Publication Date

2006

Physical Description

Hardcover: 954 p.

Subject

Medical Encyclopedias

Birth Defects. Congenital Abnormalities

UBC MD Undergrad

Abstract

Table of Contents

1. Recognizable Patterns of Malformation

A. Chromosomal Abnormality Syndromes

Down Syndrome--Trisomy 18 Syndrome --Trisomy 13 Syndrome --Trisomy 8 Syndrome Trisomy 9 --Mosaic Syndrome --Triploidy Syndrome and Diploid/Triploid Mixoploidy Syndrome --Deletion 3p Syndrome Duplication 3q Syndrome Deletion 4p Syndrome --Deletion 4q Syndrome --Deletion 5p Syndrome --Deletion 9p Syndrome --Duplication 10q Syndrome --Aniridia–Wilms Tumor Association --Deletion 11q Syndrome --Deletion 13q Syndrome --Duplication 15q Syndrome-- Deletion 18p Syndrome-- Deletion 18q Syndrome --Cat-Eye Syndrome --XYY Syndrome --XXY Syndrome, Klinefelter Syndrome XXXY and XXXXY Syndromes XXX and --XXXX Syndromes XXXXX Syndrome --45X Syndrome

--

B. Very Small Stature, Not Skeletal Dysplasia

Brachmann–De Lange Syndrome --Rubinstein-Taybi Syndrome --Russell-Silver Syndrome --Short Syndrome --3-M Syndrome --Mulibrey Nanism Syndrome --Dubowitz Syndrome --Bloom Syndrome --Johanson-Blizzard Syndrome --Seckel Syndrome Hallermann-Streiff Syndrome

C. Moderate Short Stature, Facial, +/- Genital

Smith-Lemli-Opitz Syndrome --Kabuki Syndrome --Williams Syndrome Noonan Syndrome --Costello Syndrome Cardio-Facio-Cutaneous (CFC)Syndrome --Aarskog Syndrome --Robinow Syndrome --Opitz G/BBB Syndrome --Floating-Harbor Syndrome

D. Senile-Like Appearance

Progeria Syndrome Wiedemann-Rautenstrauch Syndrome --Werner Syndrome --Cockayne Syndrome Rothmund-Thomson Syndrome

E. Early Overgrowth with Associated Defects

Fragile X Syndrome --Sotos Syndrome --Weaver Syndrome --Marshall-Smith Syndrome --Beckwith-Wiedemann Syndrome --Simpson-Golabi-Behmel Syndrome

F. Unusual Brain and/or Neuromuscular Findings With Associated Defects

Amyoplasia Congenita Disruptive Sequence Distal Arthrogryposis Syndrome, Type 1 -- Pena-Shokeir Phenotype --Cerebro-Oculo-Facio-Skeletal (COFS) Syndrome --Lethal Multiple Pterygium Syndrome --Neu-Laxova Syndrome --Restrictive Dermopathy Meckel-Gruber Syndrome --Pallister-Hall Syndrome --X-Linked Hydrocephalus Spectrum Hydrolethalus Syndrome --Walker-Warburg Syndrome Miller-Dieker Syndrome Smith-Magenis Syndrome Ataxia-Telangiectasia Syndrome Menkes Syndrome 22q13 Deletion Syndrome --Angelman Syndrome Prader-Willi Syndrome --Cohen Syndrome --Killian/Teschler-Nicola Syndrome 1p36 --Deletion Syndrome --Fryns Syndrome Zellweger Syndrome --Freeman-Sheldon Syndrome --Myotonic Dystrophy Syndrome --Schwartz-Jampel Syndrome --Marden-Walker Syndrome --Schinzel-Giedion Syndrome --Acrocallosal Syndrome --3C Syndrome --Hecht Syndrome

G. Facial Defects As Major Feature

Moebius Sequence --Blepharophimosis-Ptosis-Epicanthus Inversus Synrome --Robin Sequence --Cleft Lip Sequence --Van Der Woude Syndrome Frontonasal Dysplasia Sequence Fraser Syndrome --Melnick-Fraser Syndrome --Branchio-Oculo-Facial Syndrome --Charge Syndrome --Waardenburg Syndrome, Types I and II-- Treacher Collins Syndrome --Marshall Syndrome --Cervico-Oculo-Acoustic Syndrome

H. Facial-Limb Defects as Major Feature

Miller Syndrome --Nager Syndrome --Townes-Brocks Syndrome --Oral-Facial-Digital Syndrome --Mohr Syndrome --Deletion 22q11.2 --Oculodentodigital Syndrome --Lenz Microphthalmia Syndrome --Oto-Palato-Digital Syndrome, Type I --Oto-Palato-Digital Syndrome, Type II --Coffin-Lowry Syndrome X-Linked ?--Thalassemia/Mental Retardation (ATR-X) Syndrome --FG Syndrome Stickler Syndrome --Catel-Manzke Syndrome --Langer-Giedion Syndrome --Tricho-Rhino-Phalangeal Syndrome, Type I --Ectrodactyly–Ectodermal Dysplasia–Clefting Syndrome --Hay-Wells Syndrome Of Ectodermal Dysplasia --Roberts Syndrome

I. Limb Defect as Major Feature

Grebe Syndrome --Poland Sequence --Ulnar-Mammary Syndrome --Popliteal Pterygium Syndrome --Escobar Syndrome --Child Syndrome --Femoral Hypoplasia-Unusual Facies Syndrome --Tibial Aplasia-Ectrodactyly Syndrome --Adams-Oliver Syndrome --Holt-Oram Syndrome --Levy-Hollister Syndrome --Fanconi Pancytopenia Syndrome --Radial Aplasia–Thrombocytopenia Syndrome --Aase Syndrome

J. Osteochondrodysplasias

Achondrogenesis, Types IA And IB --Type II Achondrogenesis-Hypochondrogenesis --Fibrochondrogenesis Atelosteogenesis, Type I --Short Rib–Polydactyly Syndrome, Type I (Saldino- Noonan Type)-- Short Rib–Polydactyly Syndrome, Type II (Majewski Type) --Thanatophoric Dysplasia --Jeune Thoracic Dystrophy --Campomelic Dysplasia Achondroplasia Hypochondroplasia --Pseudoachondroplasia Acromesomelic-- Dysplasia Spondyloepiphyseal --Dysplasia Congenita Kniest Dysplasia-- Dyggve-Melchior-Clausen Syndrome --Spondylometaphyseal Dysplasia, Kozlowski Type Metatropic Dysplasia --Geleophysic Dysplasia --Chondroectodermal Dysplasia --Diastrophic Dysplasia X-Linked --Recessive Spondyloepiphyseal --Dysplasia Tarda Multiple Epiphyseal-- Dysplasia Metaphyseal Dysplasia, --Schmid Type Metaphyseal Dysplasia, --Mckusick Type Metaphyseal Dysplasia,-- Jansen Type Shwachman-Diamond Syndrome Chondrodysplasia Punctata, --X-Linked Dominant Type Autosomal Recessive --Chondrodysplasia Punctata Hypophosphatasia --Hajdu-Cheney Syndrome --Craniometaphyseal Dysplasia --Frontometaphyseal Dysplasia

K. Osteochondrodysplasia with Osteopetrosis

Osteopetrosis: Autosomal Recessive—Lethal --Sclerosteosis --Lenz-Majewski --Hyperostosis Syndrome Pyknodysostosis --Cleidocranial Dysostosis --Yunis-Varon Syndrome

L. Craniosynostosis Syndromes

Saethre-Chotzen Syndrome --Pfeiffer Syndrome --Apert Syndrome --Crouzon Syndrome FGFR3- Associated Coronal Synostosis Syndrome --Craniofrontonasal Dysplasia --Carpenter Syndrome --Greig Cephalopolysyndactyly Syndrome --Antley-Bixler Syndrome Baller-Gerold Syndrome

M. Other Skeletal Dysplasias

Multiple Synostosis Syndrome --Spondylocarpotarsal Synostosis Syndrome --Larsen Syndrome --Multiple Exostoses Syndrome --Nail-Patella Syndrome --Meier-Gorlin Syndrome --Leri-Weill Dyschondrosteosis --Langer Mesomelic Dysplasia --Acrodysostosis --Albright Hereditary Osteodystrophy

N. Storage Disorders

Generalized Gangliosidosis Syndrome, Type I (Severe Infantile Type) --Leroy I-Cell Syndrome --Pseudo-Hurler Polydystrophy Syndrome --Hurler Syndrome --Scheie Syndrome --Hurler-Scheie Syndrome --Hunter Syndrome --Sanfilippo Syndrome --Morquio Syndrome --Maroteaux-Lamy Mucopolysaccharidosis Syndrome (Mild, Moderate, and Severe Types) Mucopolysaccharidosis VII1. *-*--

O. Connective Tissue Disorders

Marfan Syndrome-- Beals Syndrome --Shprintzen-Goldberg Syndrome --Ehlers-Danlos Syndrome --Osteogenesis Imperfecta Syndrome, Type I --Osteogenesis Imperfecta Syndrome, Type II --Fibrodysplasia Ossificans Progressiva Syndrome

P. Hamartoses

Sturge-Weber Sequence --Neurocutaneous Melanosis Sequence --Linear Sebaceous Nevus Sequence --Incontinentia Pigmenti Syndrome --Hypomelanosis of Ito Tuberous Sclerosis Syndrome --Neurofibromatosis Syndrome --McCune-Albright Syndrome-- Klippel-Trenaunay Syndrome --Proteus Syndrome --Encephalocraniocutaneous Lipomatosis Maffucci Syndrome-- Peutz-Jeghers Syndrome --Bannayan-Riley-Ruvalcaba Syndrome --Hereditary Hemorragic Telangiectasia-- Multiple Endocrine Neoplasia, Type 2b --Gorlin Syndrome --Multiple Lentigines Syndrome --Goltz Syndrome Microphthalmia–Linear --Skin Defects Syndrome

Q. Ectodermal Dysplasias

Hypohidrotic Ectodermal Dysplasia Syndrome --Rapp-Hodgkin Ectodermal Dysplasia Syndrome --Tricho-Dento-Osseous Syndrome --Clouston Syndrome --GAPO Syndrome --Pachyonychia Congenita Syndrome --Xeroderma Pigmentosa Syndrome --Senter-Kid Syndrome

R. Enviornmental Agents

Fetal Alcohol Syndrome --Fetal Hydantoin Syndrome --Fetal Valproate Syndrome --Fetal Warfarin Syndrome --Fetal Aminopterin/Methotrexate --Syndrome Retinoic Acid Embryopathy --Fetal Varicella Syndrome --Hyperthermia-Induced Spectrum of Defects

S. Miscellaneous Syndromes

Coffin-Siris Syndrome --Börjeson-Forssman-Lehmann Syndrome --Alagille Syndrome-- Melnick-Needles Syndrome --Bardet-Biedl Syndrome --Mckusick-Kaufman Syndrome --Rieger Syndrome --Peters' Plus Syndrome --Toriello-Carey Syndrome --Mowat-Wilson Syndrome --Cerebro-Costo-Mandibular Syndrome --Jarcho-Levin Syndrome --Mandibuloacral Dysplasia --Berardinelli Lipodystrophy Syndrome-- Distichiasis-Lymphedema Syndrome

T. Miscellaneous Sequences

Laterality Sequences --Holoprosencephaly Sequence --Meningomyelocele, Anencephaly, Iniencephaly Sequences Occult Spinal Dysraphism Sequence Septo-Optic --Dysplasia Sequence Athyrotic --Hypothyroidism Sequence --DiGeorge Sequence --Klippel-Feil Sequence Early Urethral Obstruction Sequence-- Exstrophy of Bladder Sequence --Exstrophy of Cloaca Sequence --Urorectal Septum Malformation --Sequence Oligohydramnios Sequence --Sirenomelia Sequence-- Caudal Dysplasia Sequence-- Amnion Rupture Sequence --Limb–Body Wall Complex

U. Spectra Of Defects

Oculo-Auriculo-Vertebral Spectrum --Oromandibular-Limb Hypogenesis Spectrum --Congenital Microgastria-Limb Reduction Complex --Sternal Malformation-Vascular Dysplasia --Spectrum Monozygotic (MZ) Twinning And Structural Defects - General

V. Miscellaneous Associations

VATER Association MURCS Association

2. Approaches to Categorical Problems of Growth Deficiency, Mental Deficiency, Arthrogryposis, Ambiguous External Genitalia 3. Morphogenesis and Dysmorphogenesis 4. Genetics, Genetic Counseling, and Prevention 5. Minor Anomalies as Clues to More Serious Problems and Toward the Recognition of Malformation Syndromes 6. Normal Standards

Notes

New to this Edition

1,000 new full-color figures and photographs.

Includes updates for every disorder, with extensive new information on the molecular basis of malformations as well as new clinical information for many disorders.

Covers 16 additional commonly seen disorders, including Deletion 1p36 syndrome * Deleletion 22q13 syndrome * Meier-Gorlin Syndrome * Short Syndrome * 3-C Syndrome * GAPO Syndrome * Lenz Microphthalmia Syndrome * Muenke Craniosynostosis * Torriello-Carey Syndrome * Mandibulo-Acral Syndrome * Mowat-Wilson Syndrome * Ulnar-Mammary Syndrome * Kaufman-McKusick Syndrome * Smith-Maginess Syndrome * Wiedeman-Rautenstrauch Syndrome * and Shprintzen-Golberg Syndrome.

Presents a wealth of new Growth Charts, plus complete revisions to existing Growth Charts.

ISBN

978-0-7216-0615-6

Language

English

Material Type

Book

Call Number

REF AB 20 JON 2006

Copies

Author

Greenberg, David A.,

Aminoff, Michael J. &

Simon, Roger P.

Edition

8th Ed.

Place of Publication

New York, NY

Publisher

McGraw Hill

Publication Date

2012

Physical Description

Paperback: p 441.

Subject

Brain

Nervous System/Nervous System Diseases. Neurology

UBC MD Undergrad

Abstract

This text helps students, residents and clinicians understand the link between basic neuroscience and current approaches to diagnosis and treatment.

ISBN

978-0-07-175905-2

Language

English

Material Type

Book

Call Number

REF FM 100 GRE 2012

Copies

Author

Greenberg, David A.,

Aminoff, Michael J. &

Simon, Roger P.

Edition

11th Ed.

Place of Publication

New York, NY

Publisher

McGraw Hill

Publication Date

2019

Physical Description

Paperback: p 1653.

Subject

Brain

Nervous System/Nervous System Diseases. Neurology

UBC MD Undergrad

Abstract

Adams and Victor?s Principles of Neurology is truly the classic text in its discipline --- a celebrated volume that guides clinicians to an in-depth understanding of the key aspects of neurologic disease, including both clinical and new scientific data. This meticulously revised and updated text remains the masterwork in its field, and the most readable reference available. Within its pages, you will find a disciplined presentation of clinical data and lucid descriptions of underlying disease processes.

ISBN

978007-1842617

Language

English

Material Type

Book

Call Number

REF FM 100 ROP 2019

Copies

Editor

Barkovich, A James

Raybaud, Charles

Edition

5th Ed

5th Ed.

Place of Publication

Philadelphia, PA

Publisher

Wolters Kluwer

Publication Date

2012

Physical Description

Paperback: p 1125.

Subject

Brain

Nervous System/Nervous System Diseases. Neurology

Radiology

UBC MD Undergrad

Abstract

The thoroughly updated Fifth Edition of Pediatric Neuroimaging is a highly illustrated text-reference that describes and illustrates the full range of pediatric disorders diagnosable by modern neuroimaging. Covering the diagnosis of brain, spinal, and head and neck disorders in the pediatric patient, the text is rooted in the principle that the proper interpretation of studies requires the acquisition of high-quality images and an understanding of the basic concepts of neuroembryology, normal development, and pathophysiology. Much coverage is given to the disorders seen in everyday practice. The emphasis is on CT and MRI, which are the optimal imaging modalities in children. The first two chapters describe useful imaging techniques in this patient population and the imaging manifestations of normal development, to distinguish that from manifestations of disease. The final ten chapters of the book are divided by groups of diseases, with numerous drawings and images that illuminate the underlying pathologic and embryologic/genetic bases of each disorder. The goal is provide a basic approach to groups of diseases, then offer detailed information about the clinical manifestations, underlying biochemistry, molecular biology, genetics and/or pathology of specific disorders. The book incorporates the essential concepts for obtaining good images and understanding normal development, which helps the reader to distinguish normal developmental changes from disease

ISBN

9781-60547-7145

Language

English

Material Type

Book

Call Number

REF FM 100 BAR 2012

Copies

Author

Wynbrandt, James.

Ludman, Mark D.

Edition

3rd ed.

Place of Publication

New York, NY

Publisher

Facts On File (Infobase)

Publication Date

2008

Physical Description

Hardcover, 682 p.

Subject

Genetics/Genetic Disorders-Encyclopedias

Genetic Disorders

Birth Defects. Congenital Abnormalities

Children's Health-Encyclopedias

UBC MD Undergrad

Abstract

Topics cover everything from the most basic genetic concepts to the latest screening and diagnostic techniques. Coverage includes:

autism, cancer, chromosomal abnormalities, ethics, genetic counseling, heart defects, muscular dystrophy, neural tube defects, phenylketonuria, spina bifida, and much more.

ISBN

9780816063963

Language

English

Material Type

Book

Call Number

REF GI 20 WYN 2008

Copies

Author

Wynbrandt, James.

Ludman, Mark D.

Edition

10th

Place of Publication

New York, NY

Publisher

Elsevier Canada

Publication Date

2019

Physical Description

Hardcover, 350 pp.

Subject

Genetics/Genetic Disorders-Encyclopedias

Genetic Disorders

Birth Defects. Congenital Abnormalities

Children's Health-Encyclopedias

UBC MD Undergrad

Abstract

Covering the essentials of normal and abnormal human development for students in a variety of health science disciplines,Before We Are Born: Essentials of Embryology and Birth Defects, 10th Edition,reflects new research findings and current clinical practice through concise text and abundant illustrations . This edition has been fully updated by the world's foremost embryologists and is based on the popular text,The Developing Human, written by the same author team. It provides an easily accessible understanding of all of the latest advances in embryology, includingnormal and abnormal embryogenesis, causes of birth defects, and the role of genes in human development.

ISBN

978-0323608497

Language

English

Material Type

Book

Call Number

REF GI 200 MOO 2019

Copies