Smith's Recognizable Patterns of Human Malformation

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.

Reviews

REVIEW OF THE LAST EDITION:
“This volume is an invaluable reference for all those engaged in the areas of genetics, dysmorphology, pediatrics, and internal medicine. Dr. Jones should be congratulated for perpetuating this great book….A magnificent contribution to the field.”—Archives of Pediatrics & Adolescent Medicine

Features

# Provides over 1,450 photographs and illustrations to depict each malformation—many from the personal collections of Drs. Smith and Jones—to aid readers in diagnosis.
# Uses a consistent chapter format to help readers quickly and easily find information on any given disorder
# Offers the most current coverage available on existing disorders and their molecular basis, plus the very latest information on virtually any genetic or physiological malformation.

What's New

* Offers a clearer understanding of abnormalities through the use of more than 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.

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. Recognizable Patterns of Malformation

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
B