Smith's Recognizable Patterns of Human Malformation

Expert Consult - Online and Print

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.

Neonatologists, Perinatologists, Geneticists, Genetic Counselors, Pediatricians, Obstetricians

Hardbound, 1016 Pages

Published: September 2013

Imprint: Saunders

ISBN: 978-1-4557-3811-3


  • Introduction

    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

    Smith-Lemli-Opitz Syndrome
    Kabuki Syndrome
    Williams Syndrome
    Noonan Syndrome
    Costello Syndrome
    Cardio-Facio-Cutaneous Syndrome
    Aarskog Syndrome
    Robinow Syndrome
    Opitz G/BBB Syndrome
    Floating-Harbor Syndrome

    E. Senile-Like Appearance

    Progeria Syndrome
    Wiedemann-Rautenstrauch Syndrome
    Werner Syndrome
    Cockayne Syndrome
    Rothmund-Thomson Syndrome

    F. Early Overgrowth with Associated Defects

    Fragile X Syndrome
    Sotos Syndrome
    Weaver Syndrome
    Marshall-Smith Syndrome
    Beckwith-Wiedemann Syndrome
    Simpson-Golabi-Behmel Syndrome

    G. 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

    Gómez-López-Hernández Syndrome
    X-Linked Hydrocephalus Spectrum
    Hydrolethalus Syndrome
    Walker-Warburg Syndrome
    Miller-Dieker Syndrome

    Nablus Mask-Like Facial Syndrome
    Smith-Magenis Syndrome
    Ataxia-Telangiectasia Syndrome
    Menkes Syndrome
    Pitt-Hopkins Syndrome
    Angelman Syndrome
    Prader-Willi Syndrome
    Cohen Syndrome
    Killian/Teschler-Nicola Syndrome
    1p36 Deletion Syndrome
    Fryns Syndrome

    Matthew-Wood Syndrome
    Zellweger Syndrome
    Freeman-Sheldon Syndrome
    Myotonic Dystrophy Syndrome
    Schwartz-Jampel Syndrome
    Marden-Walker Syndrome
    Schinzel-Giedion Syndrome
    Acrocallosal Syndrome
    3C Syndrome
    Hecht Syndrome

    H. 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

    Donnai-Barrow Syndrome
    CHARGE Syndrome
    Waardenburg Syndrome
    Treacher Collins Syndrome

    Mandibulofacial Dysostosis with Microcephaly
    Marshall Syndrome
    Cervico-Oculo-Acoustic Syndrome

    I. Facial-Limb Defects as Major Feature

    Miller Syndrome
    Nager Syndrome
    Townes-Brocks Syndrome

    Laurin-Sandrow Syndrome
    Oral-Facial-Digital Syndrome
    Mohr Syndrome
    22q11.2 Microdeletion Syndrome
    Oculodentodigital Syndrome
    Lenz Microphthalmia Syndrome
    Oto-Palato-Digital Syndrome, Type I
    Oto-Palato-Digital Syndrome, Type II
    Coffin-Lowry Syndrome
    X-Linked ɑ-Thalassemia/Mental Retardation 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

    J. Limb Defect as Major Feature

    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

    Okihiro Syndrome
    Fanconi Pancytopenia Syndrome
    Radial Aplasia-Thrombocytopenia Syndrome
    Aase Syndrome

    K. Osteochondrodysplasias

    Achondrogenesis, Types IA And IB
    Type II Achondrogenesis-Hypochondrogenesis
    Atelosteogenesis, Type I

    Boomerang Dysplasia
    Short Rib-Polydactyly Syndromes
    Thanatophoric Dysplasia
    Jeune Thoracic Dystrophy
    Campomelic Dysplasia
    Acromesomelic Dysplasia
    Spondyloepiphyseal Dysplasia Congenita
    Kniest Dysplasia
    Dyggve-Melchior-Clausen Syndrome

    Smith-McCort Dysplasia
    Spondylometaphyseal Dysplasia, Kozlowski Type
    Metatropic Dysplasia
    Geleophysic Dysplasia
    Chondroectodermal Dysplasia (Ellis-van Creveld Syndrome)
    Diastrophic Dysplasia
    X-Linked Recessive Spondyloepiphyseal Dysplasia Tarda
    Multiple Epiphyseal Dysplasia
    Metaphyseal Dysplasia, Schmid Type
    Metaphyseal Dysplasia, McKusick Type
    Chondrodysplasia Punctata, X-Linked Dominant Type
    Autosomal Recessive Chondrodysplasia Punctata
    Hajdu-Cheney Syndrome
    Craniometaphyseal Dysplasia
    Sensenbrenner Syndrome

    Frontometaphyseal Dysplasia

    L. Osteochondrodysplasia with Osteopetrosis

    Osteopetrosis: Autosomal Recessive-Lethal
    Lenz-Majewski Hyperostosis Syndrome
    Cleidocranial Dysostosis

    M. Craniosynostosis Syndromes

    Saethre-Chotzen Syndrome
    Pfeiffer Syndrome
    Apert Syndrome
    Crouzon Syndrome
    FGFR3- Associated Coronal Synostosis Syndrome

    Curry-Jones Syndrome
    Craniofrontonasal Dysplasia
    Carpenter Syndrome
    Greig Cephalopolysyndactyly Syndrome
    Antley-Bixler Syndrome
    Baller-Gerold Syndrome

    N. Other Skeletal Dysplasias

    Multiple Synostosis Syndrome
    Spondylocarpotarsal Synostosis Syndrome
    Larsen Syndrome
    Multiple Exostoses Syndrome
    Nail-Patella Syndrome
    Meier-Gorlin Syndrome

    Cantú Syndrome
    Leri-Weill Dyschondrosteosis
    Albright Hereditary Osteodystrophy

    Yunis-Varón Syndrome

    Desbuquois Syndrome

    O. Storage Disorders

    Leroy I-Cell Syndrome
    Mucopolysaccharidosis I H, I H/S, I S
    Hunter Syndrome
    Sanfilippo Syndrome
    Morquio Syndrome
    Mucopolysaccharidosis VII

    P. Connective Tissue Disorders

    Marfan Syndrome
    Beals Syndrome
    Shprintzen-Goldberg Syndrome
    Ehlers-Danlos Syndrome

    Vascular Ehlers-Danlos Syndrome (EDS IV)

    Loeys-Dietz Syndrome
    Osteogenesis Imperfecta Syndrome, Type I
    Osteogenesis Imperfecta Syndrome, Type II
    Fibrodysplasia Ossificans Progressiva Syndrome

    Q. 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

    Macrocephaly-Capillary Malformation 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

    R. Ectodermal Dysplasias

    Hypohidrotic Ectodermal Dysplasia
    Rapp-Hodgkin Ectodermal Dysplasia
    Tricho-Dento-Osseous Syndrome
    Clouston Syndrome

    Cranioectodermal Dysplasia
    GAPO Syndrome
    Pachyonychia Congenita Syndrome
    Xeroderma Pigmentosa Syndrome
    Senter-KID Syndrome

    S. Environmental Agents

    Fetal Alcohol Syndrome
    Fetal Hydantoin Syndrome
    Fetal Valproate Syndrome
    Fetal Warfarin Syndrome
    Fetal Aminopterin/Methotrexate Syndrome
    Retinoic Acid Embryopathy

    Methimazole/Carbimazole Embryopathy

    Mycophenolate Mofetil Embryopathy
    Fetal Varicella Syndrome
    Hyperthermia-Induced Spectrum of Defects

    T. Miscellaneous Syndromes

    Coffin-Siris Syndrome
    Börjeson-Forssman-Lehmann Syndrome
    Alagille Syndrome
    Melnick-Needles Syndrome
    Bardet-Biedl Syndrome
    Axenfeld-Rieger Syndrome
    Rieger Syndrome
    Peters' -Plus Syndrome
    Toriello-Carey Syndrome
    Finlay-Marks Syndrome

    Mowat-Wilson Syndrome
    Cerebro-Costo-Mandibular Syndrome
    Jarcho-Levin Syndrome
    Mandibuloacral Dysplasia
    Berardinelli-Seip Congenital Lipodystrophy Syndrome
    Distichiasis-Lymphedema Syndrome

    Vici Syndrome

    U. Miscellaneous Sequences

    Laterality Sequences
    Holoprosencephaly Sequence
    Meningomyelocele, Anencephaly, Iniencephaly Sequences
    Occult Spinal Dysraphism Sequence
    Septo-Optic Dysplasia 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

    V. Spectra Of Defects

    Oculo-Auriculo-Vertebral Spectrum
    Oromandibular-Limb Hypogenesis Spectrum
    Congenital Microgastria-Limb Reduction Complex
    Sternal Malformation-Vascular Dysplasia Spectrum
    Monozygotic Twinning And Structural Defects- General

    W. Miscellaneous Associations

    VATER Association
    MURCS Association


    2. Morphogenesis and Dysmorphogenesis


    3. Genetics, Genetic Counseling, and Prevention


    4. Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation Syndromes


    5. Normal Standards


    Appendix I

    Pattern of Malformation Differential Diagnosis by Anomalies


advert image