Smith's Recognizable Patterns of Human Malformation - 7th Edition - ISBN: 9781455738113, 9780323186681

Smith's Recognizable Patterns of Human Malformation

7th Edition

Expert Consult - Online and Print

Authors: Kenneth Jones Marilyn Jones Miguel del Campo
Hardcover ISBN: 9781455738113
eBook ISBN: 9780323186681
Imprint: Saunders
Published Date: 6th September 2013
Page Count: 1016


2014 BMA Medical Book Awards 1st Prize Award Winner in Illustrated Book category and Highly Commended in Paediatrics category!

Smith's Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders of unknown cause. This esteemed medical reference book provides you with complete and authoritative, yet accessible guidance to help accurately diagnose these human disorders, establish prognoses, and provide appropriate management and genetic counseling.

Key Features

  • Recognize the visual signs of each environmental and genetic abnormality by consulting more than 1,500 full-color photographs and illustrations, many from the personal collections of Drs. Smith and Jones.
  • Find all the answers you need about normal and abnormal morphogenesis, minor anomalies and their relevance, clinical approaches to specific diagnoses, and normal standards of measurement for the entire spectrum of human malformation syndromes.

Table of Contents


Dysmorphology Approach and Classification


1. Recognizable Patterns of Malformation

A. Chromosomal Abnormality Syndromes Identifiable on Routine Karyotype
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 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. Deletion, Duplication and Microduplication Syndromes Identifiable Using Molecular Technology


1p36 Deletion Syndrome

1Q41Q42 Microdeletion Syndrome

1Q43Q44 Microdeletion Syndrome

2q31.1 Microdeletion Syndrome

2q37 Deletion Syndrome

3q29 Microdeletion Syndrome

9q34.3 Subtelomeric Deletion Syndrome

15q24 Microdeletion Syndrome

16p11.2p12.2 Microdeletion Syndrome

17q21 Microdeletion Syndrome

22q13 Deletion Syndrome

Xq Distal Duplication or Disomy


C. 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
Microcephalic Primordial Dwarfing Syndromes
Hallermann-Streiff Syndrome

D. Moderate Short Stature, Facial, +/- Genital



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About the Author

Kenneth Jones

Affiliations and Expertise

Professor of Pediatrics; Chief, Division of Dysmorphology and Teratology, University of California, San Diego, School of Medicine, La Jolla, California

Marilyn Jones

Affiliations and Expertise

Professor of Clinical Pediatrics, Department of Pediatrics, University of California, San Diego School of Medicine La Jolla, California; Clinical Service Chief, Division of Genetics, Rady Children’s Hospital, San Diego, California

Miguel del Campo

Affiliations and Expertise

Assistant Professor, Ciències Experimentals i de la Salut, Universitat Pompeu Fabra; Consultant in Clinical Genetics, Programa de Medicina Molecular I Genètica, Hospital Vall d´Hebron, Barcelona, Spain