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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 Ocu...
