Author

Arzimanoglou, Alexis

Guerrini, Renzo

Aicardi, Jean

Edition

3rd ed.

Publisher

Lippincott Williams & Wilkins

Publication Date

2004

Physical Description

Hardcover

Subject

Epilepsy

Seizure Disorders-Children

ISBN

0781726980

Language

English

Material Type

Book

Call Number

REF FM 470.5 ARZ 2004

Copies

Author

Thibodeau, Gary A.

Patton, Kevin T.

Edition

5th Ed

Place of Publication

St. Louis

Publisher

Mosby

Publication Date

2003

Physical Description

xxix, 1106 p. : ill. (some col.) ; 29 cm.

Subject

Anatomy/Physiology-Encyclopedias

Abstract

Text helps to build on basic principles and concepts to gain a "big picture" understanding of how the body works and how body systems work together.

Notes

CD ROM can be loaned.

ISBN

0323016286

Language

English

Material Type

Book

Call Number

REF AC 20 THI 2003

Copies

Author

Moore, Keith L.

Persaud, T.V.N.

Edition

8th Ed.

Place of Publication

Philadelphia, PA

Publisher

Saunders Elsevier

Publication Date

2008

Physical Description

Softcover: 522 pages

Subject

Embryology

UBC MD Undergrad

Abstract

This text examines all aspects of human development, emphasizing both basic concepts and relevant clinical problems. The book presents a week-by-week and stage-by-stage view of how fetal organs and systems develop, why and when birth defects occur, and what roles the placenta and fetal membranes play in development.

ISBN

9781416037064

Language

English

Material Type

Book

Call Number

REF AB 55 MOO 2008

Copies

Author

O'Toole, Marie T. (ed.)

Allegrante, John (ed.)

Cortese, Bernard (ed.)

Hamric, Ann B. (ed.)

Hinojosa, Jim (ed.)

Jones, Patricia S. (ed.)

Kay, Elizabeth (ed.)

Nussbaum, Burton (ed.)

O'Donnell, Edmond F. (ed.)

Edition

7th ed.

Place of Publication

Philadelphia, PA

Publisher

Saunders

Publication Date

2003

Physical Description

Hardcover: 2259 p.

Subject

Medical Encyclopedias

Medical Dictionaries. Medical Thesauri. Medical Terminology

Abstract

Encyclopedic entries are included for significant topics, such as diseases, disorders, or conditions. These encyclopedic entries include the definition along with an overview of the most important information related to Symptoms, Treatment, Patient Care, Prevention, etc.

ISBN

9780721697918

Language

English

Material Type

Book

Call Number

REF AB 20 OTO 2003

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

Ness, Bryan D. (ed.)

Knight, Jeffrey A. (ed.)

Edition

Revised Edition

Place of Publication

Pasadena, Ca.

Publisher

Salem Press, Inc.

Publication Date

2004

Physical Description

Hardcover: 440 p.

Subject

Genetics

Genetics/Genetic Disorders-Encyclopedias

UBC MD Undergrad

Abstract

This encyclopedia provides a thorough yet accessible overview of genetics. This revised edition adds 64 new overview essays to the 172 original entries.

ISBN

1587651491

Language

English

Material Type

Book

Call Number

REF GI 20 NES 2004 v.1

Copies

Author

Ness, Bryan D. (ed.)

Knight, Jeffrey A. (ed.)

Edition

Revised Edition

Place of Publication

Pasadena, Ca.

Publisher

Salem Press, Inc.

Publication Date

2004

Physical Description

Hardcover: 863 p.

Subject

Genetics

Genetics/Genetic Disorders-Encyclopedias

UBC MD Undergrad

Abstract

This encyclopedia provides a thorough yet accessible overview of genetics. This revised edition adds 64 new overview essays to the 172 original entries.

ISBN

1587651491

Language

English

Material Type

Book

Call Number

REF GI 20 NES 2004 v.2

Copies

Website

http://hdl.handle.net/2429/30974

Author

Ota, Takayo

Place of Publication

[Vancouver, BC?]

Publisher

University of British Columbia

Publication Date

2006

Subject

Faculty of Medicine

Theses

Abstract

Homeobox genes, which code for families of transcription factors, act at the top of genetic hierarchies. HOX genes specify positional identity during development, and in adult tissues, regulate differentiation and proliferation. Most ovarian carcinomas are derived from the ovarian surface epithelium (OSE). In contrast to other carcinomas, OSE differentiates further with neoplastic progression and acquires Mtillerian duct-derived epithelial properties. I tested the hypothesis that growth and differentiation in ovarian carcinogenesis are regulated by HOX genes.

Language

English

Material Type

Thesis

Call Number

Thesis Shelf

Website

PHSA Users:

http://search.ebscohost.com/login.aspx?direct=true&db=edspub&AN=edp30655&site=pfi-live

UBC Users:

http://gw2jh3xr2c.search.serialssolutions.com/?SS_searchTypeJournal=yes&V=1.0&L=GW2JH3XR2C&S=AC_T_B&C=Genes%2C+Brain+and+Behavior

Alternate Title

G2B

Corporate Author

International Behavioural and Neural Genetics Society

Place of Publication

Malden, Ma.

Publisher

Wiley-Blackwell

Publication Date

2002 - Present

ISSN

1601-1848

Language

English

Material Type

Serial

Frequency

Irregular or Other

Holdings

CFRI/Study & Learning Commons - Print: v.3-v.6:8 (2004-2007).

Online: 2002 to present.

Author

Hall, Judith G.

Allanson, Judith E.

Gripp, Karen W.

Slavotinek, Anne M.

Edition

2nd ed.

Place of Publication

[Toronto, ON]

Publisher

Oxford University Press

Publication Date

2007

Physical Description

Softcover: 489 p.

Subject

Genetics

Diagnostic Tests/Procedures. Physical Diagnosis

UBC MD Undergrad

Abstract

This book provides a comprehensive collection of data on a variety of physical measurements for use in the evaluation of children and adults with dysmorphic features, structural anomalies, and genetic syndromes. It has been written as a practical manual that can be carried to the ward or in the field for evaluating individuals with unusual physical features.

ISBN

9780195301496

Language

English

Material Type

Book

Call Number

REF FA 140 HAL 2007

Copies

Author

Kurlan, Roger (ed.)

Edition

2nd ed

Place of Publication

New York, NY

Publisher

Marcel Dekker

Publication Date

2005

Physical Description

Hardcover: xii, 534 p. : ill. ; 24 cm

Subject

Tourette Syndrome. Gilles De La Tourette Syndrome

Abstract

Table of contents:

I. PHENOMENOLOGY OF THE TIC DISORDER

1. Motor and Vocal Tics 1

Stanley Fahn

2. Premonitory ("Sensory") Experiences 15

Tamara M. Pringsheim and Anthony E. Lang

3. The Natural History of Gilles de la Tourette Syndrome 23

Ruth Dowling Bruun and Cathy L. Budman

II. ASSOCIATED BEHAVIORAL DISORDERS

4. Obsessive-Compulsive Disorder and Self-Injurious

Behavior 39

Valsamma Eapen, Jessica W. Yakeley,

and Mary May Robertson

5. New Directions in the Treatment of Comorbid Attention

Deficit Hyperactivity Disorder and Tourette's Syndrome 89

Donna R. Palumbo

6. Anxiety and Other Comorbid Emotional Disorders 109

Barbara J. Coffey, Deborah Frisone,

and Loren Gianini

7. Aggressive Symptoms and Tourette's Syndrome 127

Cathy L. Budman, Lori Rockmore,

and Ruth Dowling Bruun

III. DIAGNOSIS AND ASSESSMENT

8. Primary Tic Disorders 155

Gerald Erenberg

9. Tics in Other Neurological Disorders 173

Joseph Jankovic and Carolyn Kwak

10. Drug-Induced Tics 195

Karen E. Anderson and William J. Weiner

11. Rating Tic Severity 215

Roger Kurlan and Michael P. McDermott

12. Neuropsychological Function in Tourette's

Syndrome 237

Peter G. Como

IV. NEUROBIOLOGY

13. Basal Ganglia Circuits and Thalamocortical Outputs 253

Jonathan W. Mink

14. Neurobiological Issues in Tourette's Syndrome 273

Harvey S. Singer and Karen Minzer

15. Infection and Autoimmune Factors in Tourette's

and Related Disorders 319

William M. McMahon and Michael Johnson

16. Imaging in Tourette's Syndrome 351

Andrew Feigin and David Eidelberg

V. GENETICS AND EPIDEMIOLOGY

17. The Inheritance Pattern 365

Maria C. Rosario-Campos and David L. Pauls

18. Progress in Gene Localization 379

Cathy L. Barr

19. Epidemiology of Tourette's Syndrome 399

Caroline M. Tanner

VI. CLINICAL CARE

20. The Treatment of Tics 411

Christopher G. Goetz and Stacy Horn

21. Obsessive-Compulsive Disorder in Tourette's

Syndrome: Treatment and Other Considerations 427

Robert A. King, Diane Findley,

Lawrence Scahill, Lawrence A. Vitulano,

and James F. Leckman

22. The Treatment of Comorbid Attention-Deficit Disorder

and Tourette's Syndrome 455

Laurie Brown and Leon S. Dure

23. The Neurosurgical Treatment of Tourette's

Syndrome 467

Chris van der Linden, Henry Colle, Elisabeth M. J.

Foncke, and Richard Bruggeman

24. Genetic Counseling 475

P. Michael Conneally

VII. SPECIAL TOPICS

25. The Child and Adolescent with Tourette's Syndrome:

Clinical Perspectives on Phenomenology

and Treatment 481

James F. Leckman and Donald J. Cohen

26. Tourette's Syndrome: A Human Condition 505

Oliver Sacks

27. The Tourette Syndrome Association, Inc. 511

Sue Levi-Pearl

Index 519

About the Editor 535

Notes

*March 24/14 - Marked as missing

ISBN

082475316X

Language

English

Material Type

Book

Call Number

REF FM 484 KUR 2005

Copies

Author

Sadock, Benjamin

Sadock, Virginia

Edition

3rd edition

Place of Publication

Philadelphia, PA

Publisher

Lippincott Williams & Wilkins

Publication Date

2008

Physical Description

xiv, 738 p. ; 27 cm.

Subject

Mental Disorders

Mental Health/Illness

Psychiatrist

UBC MD Undergrad

Abstract

This textbook contains relevant clinical material from the Kaplan and Sadock's Synopsis of Psychiatry, Tenth Edition and includes updated information on recently introduced psychiatric drugs. The book is DSM-IV-TR compatible and replete with case studies and tables, including DSM-IV-TR tables. Chapters offer step-by-step guidance on the clinical examination, the psychiatric report, medical assessment of the psychiatric patient, laboratory tests, and signs and symptoms. The major portion of the book covers all psychiatric and substance-related disorders, with special chapters on children, adolescents, and the elderly. Also included are chapters on emergency psychiatry, forensic psychiatry, ethics, and palliative and end-of-life care.

ISBN

9780781787468

Language

English

Material Type

Book

Call Number

REF CD 05 SAD 2008

Copies

Author

McNichol, Elaine

Hamer, Susan (Eds).

Place of Publication

Cheltenham, UK

Publisher

Nelson Thornes Ltd.

Publication Date

2007

Physical Description

Softcover: 205 pages.

Subject

Leadership/Coaching

Nursing. Registered Nurse. RN

Abstract

This book introduces the reader to the principles and practice of effective leadership and management in relation to themselves as an individual, a team member and a practitioner with the client.

ISBN

978-0-7487-9767-7

Language

English

Material Type

Book

Call Number

REF AA 75 MCN 2007

Copies

Author

Litin, Scott C. (editor in chief)

Corporate Author

Mayo Foundation for Medical Education and Research

Edition

3rd ed.

Place of Publication

New York, NY

Publisher

HarperResource

Publication Date

2003

Physical Description

Hardcover; xvi, 1448 p.

Subject

Medical Encyclopedias

Abstract

From prevention to treatment and from infancy to old age, this reference book offers information on living well, common conditions and concerns through life's stages, making sense of symptoms, first aid and emergency care, diseases and disorders, and tests and treatments. It also presents a medication guide that covers more than 500 prescription and over-the-counter drugs, as well as a listing of additional resources for more information.

ISBN

0060002506

Language

English

Material Type

Book

Call Number

REF AB 20 LIT 2003

Copies

Author

Lyon, Gilles

Kolodny, Edwin H.

Pastores, Gregory M.

Place of Publication

New York, NY

Publisher

McGraw-Hill

Publication Date

2006

Physical Description

Hardcover: 542 p.

Subject

Metabolic Disorders

Nervous System/Nervous System Diseases-Children

Abstract

From the author of "Principles of Neurology", this guide is organized by age group, from the neonate to late childhood, and presents systematic, clinical methodology to the diagnosis and management of this difficult and often baffling group of disorders.

ISBN

0071445080

Language

English

Material Type

Book

Call Number

REF FA 500 LYO 2006

Copies

Author

Rimoin, David L.

Pyeritz, Reed E.

Korf, Bruce R. (Eds).

Edition

5th Ed.

Place of Publication

Philadelphia, PA

Publisher

Churchill Livingstone Elsevier

Publication Date

2007

Physical Description

Hardcover: 1082 pages

Subject

Genetics

UBC MD Undergrad

Abstract

This 3 volume text emphasizes application as well as the theory of medical genetics across the full spectrum of inherited disorders. Get expert clinical advice and guidance from over 250 of the world's most trusted authorities in medical genetics.

Volume 1 covers: Basic principles; General principles; Approaches to clinical problems; Approaches to specific disorders.

ISBN

9780443068706

Language

English

Material Type

Book

Call Number

REF GI 200 RIM 2007 VOL 1

Copies

Author

Rimoin, David L.

Pyeritz, Reed E.

Korf, Bruce R. (Eds).

Edition

5th Ed.

Place of Publication

Philadelphia, PA

Publisher

Churchill Livingstone Elsevier

Publication Date

2007

Physical Description

Hardcover: pages: 1083-2284

Subject

Genetics

UBC MD Undergrad

Abstract

This 3 volume text emphasizes application as well as the theory of medical genetics across the full spectrum of inherited disorders. Get expert clinical advice and guidance from over 250 of the world's most trusted authorities in medical genetics.

Volume 2 covers: Cardiovascular disorders; Respiratory disorders; Renal disorders; Gastrointestinal disorders; Hematologic disorders; Immunologic disorders; Endocrinologic disorders; Metabolic disorders.

ISBN

9780443068706

Language

English

Material Type

Book

Call Number

REF GI 200 RIM 2007 VOL 2

Copies

Author

Rimoin, David L.

Pyeritz, Reed E.

Korf, Bruce R. (Eds).

Edition

5th Ed.

Place of Publication

Philadelphia, PA

Publisher

Churchill Livingstone Elsevier

Publication Date

2007

Physical Description

Hardcover: pages: 2285-3872

Subject

Genetics

UBC MD Undergrad

Abstract

This 3 volume text emphasizes application as well as the theory of medical genetics across the full spectrum of inherited disorders. Get expert clinical advice and guidance from over 250 of the world's most trusted authorities in medical genetics.

Volume 3 covers: Metabolic disorders; Mental and Behaviour disorders; Neuromuscular disorders; Opthalmologic disorders; Deafness; Craniofacial disorders; Dermatologic disorders; Connective tissue disorders; Skeletal disorders.

ISBN

9780443068706

Language

English

Material Type

Book

Call Number

REF GI 200 RIM 2007 VOL 3

Copies

Website

http://hdl.handle.net/2429/32051

Author

Peng, Gang

Place of Publication

[Vancouver, BC?]

Publisher

University of British Columbia

Publication Date

2007

Subject

Faculty of Medicine

Theses

Abstract

Pre-eclampsia remains one of the most common causes of maternal mortality in the developed world, and we still have no known effective prophylaxis and proven modifiers. The recent successful clinical trial of recombinant human activated protein C (rhAPC) in the management of SIRS (systemic inflammatory response syndrome) has drawn attention to the possible use of this medicine for other conditions. Pre-eclampsia, has remarkable similarity to SIRS and may be such a condition.

Language

English

Material Type

Thesis

Call Number

Thesis Shelf

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