Smith's Recognizable Patterns of Human Malformation Expert Consult - Online and Print

Name: Smith's Recognizable Patterns of Human Malformation Expert Consult - Online and Print
Price: 12.5 USD
Availability: InStock
ISBN: 9781455738113

ISBN-10: 1455738115

ISBN-13: 9781455738113

Edition: 7th 2013

Authors: Kenneth Lyons Jones, Marilyn Crandall Jones, Miguel del Campo, Miguel del Campo

List price: $74.99

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Description:

The completely revised and updated New Edition of this definitive text-now in full color! Long known as the source to consult for guidance on diagnosis, prognosis, plan management, and genetic counseling, this easy-to-use reference focuses on the patterns of human defects caused by inborn errors in morphogenesis as opposed to defects caused by mechanical problems. It provides a wealth of information on normal and abnormal morphogenesis * minor anomalies and their relevance * clinical approaches to specific diagnoses * and normal standards of measurement for the entire spectrum of disorders. Each chapter includes a description of the specific abnormality-including occasional associated…

Book details

List price: $74.99
Edition: 7th
Copyright year: 2013
Publisher: Elsevier - Health Sciences Division
Publication date: 10/8/2013
Binding: Hardcover
Pages: 1016
Size: 7.75" wide x 10.25" long x 1.75" tall
Weight: 5.170
Language: English




Recognizable Patterns of Malformation



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



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



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



Senile-Like Appearance


Progeria Syndrome


Wiedemann-Rautenstrauch Syndrome


Werner Syndrome


Cockayne Syndrome


Rothmund-Thomson Syndrome



Early Overgrowth with Associated Defects


Fragile X Syndrome


Sotos Syndrome


Weaver Syndrome


Marshall-Smith Syndrome


Beckwith-Wiedemann Syndrome


Simpson-Golabi-Behmel Syndrome



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



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



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



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



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



Osteochondrodysplasia with Osteopetrosis


Osteopetrosis: Autosomal Recessive-Lethal


Sclerosteosis


Lenz-Majewski Hyperostosis Syndrome


Pyknodysostosis


Cleidocranial Dysostosis


Yunis-Varon Syndrome



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



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



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 VII



Recognizable Patterns of Malformation



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



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



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



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



Miscellaneous Syndromes


Coffin-Siris Syndrome


Bï¿½rjeson-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



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



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



Miscellaneous Associations


VATER Association


MURCS Association



Approaches to Categorical Problems of Growth Deficiency


Mental Deficiency, Arthrogryposis, Ambiguous External


Genitalia



Morphogenesis and Dysmorphogenesis



Genetics, Genetic Counseling, and Prevention



Minor Anomalies as Clues to More Serious Problems and Toward the Recognition of Malformation Syndromes



Normal Standards