Smith's Recognizable Patterns of Human Malformation

7th Edition

Expert Consult - Online and Print


  • Kenneth Jones
  • Marilyn Jones
  • Miguel del Campo
  • 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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    © 2013
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