Human Malformations and Related Anomalies

Hardcover | October 27, 2015

EditorRoger E. Stevenson, Judith G. Hall, David B. Everman

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The third edition of Human Malformations and Related Anomalies is a comprehensive reference and clinical guide to significant human malformations. Authored by 40 authorities in genetics and dysmorphology, this streamlined new edition offers an authoritative and richly illustrated guide toclinical presentation, associated anomalies, treatment, and prognosis.

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The third edition of Human Malformations and Related Anomalies is a comprehensive reference and clinical guide to significant human malformations. Authored by 40 authorities in genetics and dysmorphology, this streamlined new edition offers an authoritative and richly illustrated guide toclinical presentation, associated anomalies, tre...

Roger E. Stevenson, MD, is Senior Clinical Geneticist at Greenwood Genetic Center in Greenwood, South Carolina. Judith G. Hall, MD, is Professor Emerita of Pediatrics and Medical Genetics at the University of British Columbia based at Children's and Women's Health Centre of British Columbia in Vancouver. David B. Everman, MD, is an Ass...

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Format:HardcoverDimensions:1024 pages, 11 × 8.5 × 0.98 inPublished:October 27, 2015Publisher:Oxford University PressLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:019938603X

ISBN - 13:9780199386031

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Table of Contents

Roger E. Stevenson and Judith G. Hall: Introduction1. Rober E. Stevenson: LimbsIntroduction1.1 Limb Deficiency1.1a Absence of Limb1.1b Absent Radius1.1c Absent Ulna1.1d Absent Humerus1.1e Absence and Hypoplasia of the Tibia1.1f Absent Fibula1.1g Absence and Hypoplasia of the Femur1.1h Terminal Transverse Limb Deficiency1.2 Synostosis1.2a Carpal and Tarsal Coalition1.2b Metacarpophalangeal and Metatarsophalangeal Synostosis1.2c Proximal Symphalangism1.2d Distal Symphalangism1.2e Humeroradial Synostosis1.2f Radioulnar Synostosis1.2g Tibiofibular Synostosis1.2h Sirenomelia1.3 Constriction Rings1.4 Duplications, Excessive Partitions, and Accessory Bones1.5 Bowing of Long Bones1.6 Short Stature1.7 Tall Stature1.8 Limb Overgrowth1.9 Increased Bone Density1.10 Decreased Bone Density1.11 Osteolysis1.12 Anomalies of the Patella1.13 Arthrogryposis1.13a Amyoplasia1.13b Distal arthrogryposis1.13c Fetal akinesia phenotype1.13d Pterygium syndromes2. David B. Everman: Hands/FeetIntroductionPolydactyly2.1a Preaxial Polydactyly2.1b Postaxial Polydactyly2.1c Mesoaxial PolydactylySyndactyly2.2a Syndactyly Type I2.2b Syndactyly Type II2.2c Syndactyly Type III2.2d Syndactyly Type IV2.2e Syndactyly Type V2.2f Cenani-Lenz Syndactyly2.2g SymbrachydactylyBrachydactyly2.3a Brachydactyly Type A12.3b Brachydactyly Type A22.3c Brachydactyly Type A32.3d Brachydactyly Type B2.3e Brachydactyly Type C2.3f Brachydactyly Type D2.3g Brachydactyly Type EDeficiency2.4a Preaxial Deficiency2.4b Postaxial Deficiency2.5 Terminal Transverse Deficiency2.6 Split-Hand-Foot Malformation2.7 Macrodactyly2.8 Camptodactyly2.9 Clubfoot3. Louanne Hudgins and Neda Zadeh: Pectoral and Pelvic GirdlesIntroduction3.1 Clavicular Hypoplasia/Aplasia3.2 Clavicular Pseudoarthrosis3.3 Altered Shape and Other Abnormalities of the Clavicle3.4 Sprengel Anomaly3.5 Glenoid Hypoplasia3.6 Anomalies of the Pelvic Bone3.7 Developmental Dysplasia of the Hip3.8 Coxa Vara3.8 Coxa Valga4. Louanne Hudgins and Neda Zadeh: Spine and RibsIntroduction4.1 Occipitalization of the Atlas4.2 Aplasia/Hypoplasia of the Odontoid Process of the Axis4.3 Klippel-Feil Anomaly4.4 Segmentation Defects of the Vertebrae4.5 Altered Vertebral Body Contour4.6 Coronal Clefts of the Vertebrae4.7 Coronal Clefts of the Vertebrae4.8 Spondylolysis and Spondylolisthesis4.9 Sacral Agenesis4.10 Anomalies of the Ribs4.11 Cervical Rib4.12 Pectus Excavatum4.13 Pectus Carinatum4.14 Anomalies of the Sternum5. John M. Graham, Jr. and Pedro Sanchez-Lara: SkullIntroduction5.1 Craniosynostosis5.2 Kleeblattschadel5.3 Wide Cranial Sutures5.4 Anomalies of Fontanelles5.5 Parietal Foramina5.6 Wormian Bones5.7 Cranial Dermal Sinus5.8 Scalp Vertex Aplasia5.9 Thin Cranial Bones5.10 Undermineralization of the Skull5.11 Craniotabes5.12 Thick Cranial Bones5.13 Sclerosis and Hyperostosis of the Skull5.14 Vertex Birth Molding5.15 Breech Head and Bathrocephaly5.16 Other Cranial Deformations5.17 Anomalies of the Sella Turcica5.18 Anomalies of the Foramen Magnum5.19 Anomalies of Other Basal Foramina5.20 Basilar Impression5.21 Cephalohematoma5.22 Miscellaneous Anomalies of the Skull6. Karen Gripp: Facial BonesIntroduction6.1 Metopic Synostosis6.2 Orbital and Ocular Hypotelorism6.3 Orbital and Ocular Hypertelorism6.4 Zygomatic Hypoplasia6.5 Absent Manidble6.6 Congenital Asymmetry of Facial Skeleton6.7 Micrognathia6.8 Midface Retrusion and Hypoplasia6.9 Midline Facial Clefting7. Mary Beth Dinulos: Skin, Hair and NailsIntroduction7.1 Aplasia Cutis Congenita7.2 Ichthyosis7.3 Ectodermal Dysplasias7.4 Epidermolysis Bullosa7.5 Cutaneous Hamartomas7.6 Vascular Malformations7.7 Pigmentation Abnormalities7.8 Mosaicism7.9 Epidermal Appendage Abnormalities7.10 Disorders of Connective Tissue8. Judith G. Hall: MuscleIntroduction8.1a Hypertrophia Musculorum Vera8.1b Kocher-Debre Semaalagne8.1c Hyperekplexia8.2 Generalized Decrease in Muscle Mass8.3 Facial Muscle Deficiency8.3a Deficiency of Extraocular Eye Muscles8.3b Asymmetric Crying Face8.3c Mobius Syndrome8.3d Absence and Underdevelopment of the Tongue8.3e Macroglossia8.4 Diagraphagmatic Defect8.5 Achalasia8.6a Prune Belly Syndrome8.6b Other Abdominal Wall8.7a Poland Anomaly8.7b Lower Limb Poland Anomaly8.8 Other Muscle Hypoplasia8.9a Muscle Variants8.9b Muscle Variant Abnormalities Associated with Chromosomal Disorders8.9c Accessory Muscles8.9d Atavisms9. Alasdair G.W. Hunter: BrainIntroduction9.1 Microcephaly9.2 Megalencephaly9.3 Aprosencephaly-Atelencephaly9.4 Holoprosencephaly9.5 Malformations of Cortical Development9.5a Lissencephaly9.5b Pachygyria9.5c polymicrogyria9.5d Heterotopia9.5e Focal Cortical Dysplasia9.6 Agenesis of the Corpus Callosum9.7 Cavum9.8 Hydrocephalus9.9 Colpocephaly9.10 Hydranencephaly9.11 Porencephaly9.12 Cerebellar Abnormalities9.13 Cystic Malformations9.14 Chiari Malformations10. David Dyment: Spinal CordIntroduction10.1 Primary Tethered Cord10.2 Split Cord10.3 Tailgut Cyst10.4 Syringomelia10.5 Myelocystocele10.6 Meningocele10.7 Neurenteric Malformation10.8 Intraspinal Cysts11. Roger E. Stevenson: Brain and Spinal CordIntroduction11.1 Anencephaly11.2 Iniencephaly11.3 Encephalocele11.4 Spina Bifida12. Elias I. Traboulsi, Shomoukh AlShamekh and Natario L. Couser: The EyeIntroduction12.1 Anophthalmia12.2 Microphthalmia and Typical Uveal Coloboma12.3 Cyclopia and Synophthalmia12.4 Cryptophthalmos12.5 Blepharophimosis12.6 Other Anomalies of the Eyelids12.7 Corneal Malformations12.8 Aniridia12.9 Anterior Segment Dysgenesis12.10 Peters Anomaly12.11 Cataracts12.12 persistent Hyperplastic Primary Vitreous12.13 Optic Nerve Hypoplasia12.14 Optic Pit12.15 Morning Glory Disc Anomaly13. Dorothy Catherine Grange: External EarIntroduction13.1 Absence of the External Ear13.2 Small Ear13.3 Large Ear13.4 Cryptotia13.5 Synotia and Otocephaly13.6 Polyotia13.7 Anomalies of the External Auditory Canal13.8 Abnormal Ear Position13.9 Lop-Cup Ear Anomaly13.10 Protruding Ear13.11 Variants of the Helix and Anthelix13.12 Variants of the Ear Lobe13.13 Auricular Tags13.14 Auricular Pits13.15 Ear Lobe Creases and Pits13.16 Deformation of the Auricle14. John D. Carey and Albert H. Park: Middle EarIntroduction14.1 Absence, Hypoplasia, and Malformations of the Malleus14.2 Fusion Defects of the Malleus14.3 Absence, Hypoplasia and Malformation of the Incus14.4 Fusion Defects of the Incus14.5 Absence, Hypoplasia and Malformation of the Stapes14.6 Congenital Fixation of the Stapes14.7 Absence of the Oval Window14.8 Congenital Cholesteatoma14.9 Persistence of the Stapedial Artery14.10 Highly Placed Jugular Bulb15. Eloise J. Prijoles: Inner EarIntroduction15.1 Inner Ear15.2 Prelingual Hearing Loss16. Margaret P. Adam: NoseIntroduction16.1 Absent Nose16.2 unilateral Arhinia16.3 Small Nose16.4 Cleft Ala Nasi16.5 Bifid Nose16.6 Choanal Atresia16.7 Supernumerary Nares16.8 Proboscis16.9 Minor Anomalies of the Nose16.10 Nasal Tooth16.11 Deviation of the Nasal Septum16.12 Turbinate Deformity16.13 Arhinencephaly16.14 Encephalocele Involving the Nose17. Marilyn Jones: LipsIntroduction17.1 Median Cleft Lip17.2 Cleft Lip with or without Cleft Palate17.3 Cleft Palate18. Michael I. Cunningham: TongueIntroduction18.1 Absence and Underdevelopment of the Tongue18.2 Macroglossia18.3 Absence of Lingual Frenulum18.4 Ankyloglossia18.5 Glossopalatine Ankylosis18.6 Supernumerary Tongue18.7 Bifid Tongue18.8 Fissured Tongue, Scrotal Tongue, Lingua Plicata18.9 Median Rhomboid Glossitis18.10 Pigmented Fungiform Papillae of the Tongue18.11 Choristoma of the Tongue18.12 Lymphangioma of the Tongue18.13 Hemangioma of the Tongue18.14 Mixed Hamartoma of the Tongue18.15 Teratoma of the Tongue18.16 Lingual Thyroid19. Hitesh Kapadia: TeethIntroduction19.1 Absence of One or More Teeth19.2 Macrodontia19.3 Microdontia19.4 Supernumerary Teeth19.5 Abnormalities of Tooth Shape19.6 Enamel Dysplasia19.7 Dentin Dysplasia19.8 Abnormalities of Tooth Eruption19.9 Dental Malocclusion20. Paul Stephen Kruszka and Laura Olivieri: HeartIntroduction20.1 Atrial Septal Defect20.2 Atrioventricular Septal Defect20.3 Ventricular Septal Defect20.4 Left Ventricular Outflow Obstruction20.5 Right Outflow Tract Obstruction20.6 Conotruncal Defects20.7 Double Outlet Right Ventricle20.8 Single Ventricle20.9 Ebstein20.10 Tricuspid Atresia20.11 Pulmonary Venous Anomalies20.12 Coronary Anomalies20.13 Heterotaxy21. Lynne M. Bird: Systemic VasculatureIntroduction21.1 Interrupted Aortic Arch21.2 Right Aortic Arch21.3 Cervical Aortic Arch21.4 Double Aortic Arch21.5 Double Lumen Aortic Arch21.6 Innominate Artery Variants21.7 Subclavian Artery Variants21.8 Patent Ductus Arteriosus21.9 Coarctation of the Aorta21.10 Peripheral Pulmonic Stenosis21.11 Persistent Left Superior Vena Cava21.12 Inferior Vena Cava Variants21.13 Congenital Absence of Portal Vein21.14 Congenital left Renal Vein Anomalies21.15 patent Ductus Venosus21.16 Scimitar Syndrome21.17 Deep Vein Abnormalities22. Stavit Allon Shalev: Lymphatic SystemIntroduction22.1 Lymphedema22.2 Intestinal Lymphangiectasia22.3 Cystic Renal Lymphangiectasia22.4 Generalized Lymphatic Dysplasia22.5 Pulmonary Lymphangiectasia22.6 Fetal Cystic Hygroma22.7 Lymphangioma22.8 Lymphangioleiomyomatosis23. Arthur S. Aylsworth: SpleenIntroduction23.1 Asplenia, Congenital, Nonsyndromal23.2 Asplenia, Congenital, Syndromal23.3 Polysplenia23.4 Positional Alterations of the Spleen23.5 Splenic Fusion23.6 Accessory Spleen23.7 Splenic Structural Variation23.8 laterality: Situs Inversus23.9 Laterality: Situs Ambiguus24. Caleb P. Bupp and Roger E. Stevenson: Lower Respiratory OrgansIntroduction24.1 Bifid Epiglottis24.2 Laryngeal Atresia, Webs, and Stenosis24.3 Laryngeal Cleft24.4 Absent Trachea24.5 Tracheal Stenosis24.6 Congenital Tracheal Cartilaginous Sleeve24.7 Tracheoesophageal Fistula24.8 Pulmonary Agenesis24.9 Primary Pulmonary Hypoplasia24.10 Congenital Cystic Adematoid Malformation24.11 Congenital Lobar Emphysema24.12 Diaphragmatic Hernia25. Cynthia J. Curry and Jacob Hogue: Ventral Wall of the TrunkIntroduction25.1 Sternal Defects25.2 Ectopia Cordis25.3 Gastroschisis25.4 Umbilical Hernia25.5 Omphalocele25.6 Limb-Body Wall Defect25.7 Exstrophy of the Bladder25.8 Exstrophy of the Cloaca26. H. Eugene Hoyme and Roger E. Stevenson: Upper Gastrointestinal SystemIntroduction26.1 Pharyngeal Fistula26.2 Congenital Pharangeal Diverticula26.3 Esophageal Atresia and Tracheoesophageal Fistula26.4 Esophageal Webs and Rings26.5 Tubular Esophageal Duplications26.6 Enterogenous Cysts26.7 Esophageal Diverticula26.8 Heterotopic Gastric Mucosa26.9 Congenital Short Esophagus26.10 Achalasia26.11 Chalasia26.12 Atresia and Stenosis of the Stomach26.13 Microgastria26.14 Diverticula of the Stomach26.15 Duplication of the Stomach26.16 Defects of Gastric Musculature26.17 Malposition of the Stomach26.18 Mucosal Heterotopia26.19a Pyloric Atresia25.19b Infantile Hypertrophic Pyloric Stenosis26.20 Duodenal Atresia and Stenosis26.21 Duodenal Duplications26.22 Duodenal Diverticula26.23 Malrotation of the Duodenum26.24 Congenital Aganglionic Duodenum26.25 Extrinsic Vascular Obstruction of the Duodenum26.26 Congenital Paraduodenal Hernia27. Roger E. Stevenson: Small and Large IntestinesIntroduction27.1 Jejunal Atresia and Stenosis27.2 Ilial Atresia andr Stenosis27.3 Colon Atresia andr Stenosis27.4 Multiple Intestinal Atresias27.5 Megacolon27.6 Malrotation of Intestines27.7 Duplications and Cysts of Intestine27.8 Meckel Diverticulum28. Cathy A. Stevens: Rectum/AnusIntroduction28.1 Atresia of the Rectum and Anus28.2 Rectal Duplication29. Ian D. Krantz and Kosuke Izumi: Liver, Gall Bladder, and PancreasIntroduction29.1 Anomalies of Liver Shape and Lobation29.2 Liver Dysplasia29.3 Intrahepatic Biliary Duct Atresia29.4 Agenesis of the Gallbladder29.5 Extrahepatic Biliary Atresia29.6 Cysts of Biliary Systems29.7 Structural Variation of the Gallbladder29.8 Absence of the Pancreas29.9 Structural Variation of the Pancreas29.10 Pancreas Cysts and Dysplasias29.11 Pancreas Ectopia and Heterotopia30. Jane Alison Evans: The Urinary TractIntroduction30.1 Renal Agenesis30.2 Renal Hypoplasia30.3 Autosomal Recessive Polycystic Kidney Disease30.4 Autosomal Dominant Polycystic Kidney Disease30.5 Renal Dysplasia30.6 Familial Nephronophthisis/Medullary Cystic Disease30.7 Medullary Sponge Kidney30.8 Obstructive Renal Cystic Disease30.9 Supernumerary Kidney30.10 Horseshoe Kidneys30.11 Renal Ectopia30.12 Duplication of the Ureter30.13 Absent Urinary Bladder30.14 Congenital Megacystis30.15 Bladder Diverticulum30.16 Urachal Anomalies30.17 Urethral Agenesis/Atresia30.18 Posterior Urethral Valves and Urethral Stenosis30.19 Urethral Duplication31. Roger E. Stevenson: Male Genital SystemIntroduction31.1 Absent Penis31.2 Micropenis31.3 Hypospadias31.4 Epispadias31.5 Hidden or Concealed Penis31.6 Megalourethra31.7 Diphallia31.8 penoscrotal Transposition31.9 Ectopia-Accessory Scrotum31.10 Cryptorchidism31.11 Absent or Small Testis31.12 Polyorchidism31.13 Ectopic Testis31.14 Undermasculinization31.15 Wolffian Duct Malformation31.16 Persistent Mllerian Ducts31.17 Splenogonadal Fusion31.18 Inguinal hernia31.19 Hydroceles32. Leah W. Burke: Female Genital SystemIntroduction32.1 Ovarian Dysgenesis32.2 Mixed Gonadal Dysgenesis32.3 Ovotesticular Disorder of Sexual Development32.4 Ambiguous Genitalia32.5 Mllerian Aplasia32.6 Absence of Fallopian Tubes32.7 Incomplete Mllerian Fusion32.8 Cervical Aplasia32.9 Vaginal Aplasia32.10 Transverse Vaginal Septum32.11 Longitudinal Vaginal Septum33. Roger E. Stevenson: BreastsIntroduction33.1 Amastia-Hypomastia33.2 Enlarged Breasts33.3 Supernumerary Nipples33.4 Widely Spaced Nipples33.5 Gynecomastia34. Jennifer M. Kalish: Asymmetric Growth and Generalized OvergrowthIntroduction34.1 Hemihypoplasia34.2 Hemihyperplasia/Hemihypertrophy34.3 Generalized Overgrowth35. Judith G. Hall: TwinsIntroduction35.1 Dizygotic Twinning35.2 Vanishing Twin35.3 Fetus Papyraceus35.4 Monozygotic Twins35.5 Mirror Image Twins35.6 Twin to Twin Transfusion35.7 Acardia35.8 Conjoined Twins35.9 Parasitic Twins35.10 Sacral Teratoma36. Isabel Filges: Umbilical Cord and PlacentaIntroduction36.1 Molar Transformation of the Placenta36.2 Placental Mesenchymal Dysplasia36.3 Chorangioma36.4 Placentation in Twinning36.5 Umbilical Cord Loops36.6 Umbilical Cord Knots36.7 Umbilical Cord length36.8 Umbilical Cord Insertion36.9 Vascular Anomalies of the Umbilical Cord36.10 Umbilical Cord Cyst36.11 Umbilical Cord Hernia36.12 Umbilical Cord Torsion36.13 Umbilical Cord helical Ulceration36.14 Anomalies of Umbilical Cord Separation36.15 Umbilical Cord Diameter36.16 Umbilical Cord DisruptionAppendixSubject Index

Editorial Reviews

"This book will be of great help to clinical geneticists. Highly recommended." --European Journal of Human Genetics