Smiths Recognizable Patterns of Human Malformation-6판

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
abnormalities?natural history, etiology, and references. On opposing pages are several descriptive photographs and line
drawings of either an individual with the abnormality or specific features of the abnormality.

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, Ty