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Encyclopedia of genetic disorders and birth defects

https://libraries.phsa.ca/permalink/catalog110555
Wynbrandt, James., Ludman, Mark D. New York, NY: Facts On File (Infobase) , 2008. 3rd ed. (Book) — 1 copy, 1 available
Audience
Professional
Agency
BC Children's and Women's
Location
Study & Learning Commons
Call Number
REF GI 20 WYN 2008
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…
Title
Encyclopedia of genetic disorders and birth defects
Author
Wynbrandt, James.
Ludman, Mark D.
Edition
3rd ed.
Place
New York, NY
Publisher
Facts On File (Infobase)
Year Published
2008
Physical Description
Hardcover, 682 p.
Topics
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
Agency
BC Children's and Women's
Location
Study & Learning Commons
Audience
Professional
Call Number
REF GI 20 WYN 2008
Copy 1 BC Children's and Women's Study & Learning Commons REF Available
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Smith's recognizable patterns of human malformation

https://libraries.phsa.ca/permalink/catalog109164
Jones, Kenneth Lyons. Philadelphia, PA: Elsevier Saunders , 2006. 6th ed. (Book) — 2 copies, 2 available
Audience
Professional
Agency
BC Children's and Women's
Location
Study & Learning Commons
Call Number
REF AB 20 JON 2006
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 Duplic…
Title
Smith's recognizable patterns of human malformation
Author
Jones, Kenneth Lyons
Edition
6th ed.
Place
Philadelphia, PA
Publisher
Elsevier Saunders
Year Published
2006
Physical Description
Hardcover: 954 p.
Topics
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
Agency
BC Children's and Women's
Location
Study & Learning Commons
Audience
Professional
Call Number
REF AB 20 JON 2006
Copy 3 BC Children's and Women's Study & Learning Commons REF Available
Copy 1 BC Children's and Women's Study & Learning Commons REF Available
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