Human Malformations and Related Anomalies

Introduction ; Roger E. Stevenson and Judith G. Hall ; Chapter 1 Limbs ; Roger E. Stevenson ; Introduction ; 1.1 Limb Deficiency ; 1.1a Absence of Limb ; 1.1b Absent Radius ; 1.1c Absent Ulna ; 1.1d Absent Humerus ; 1.1e Absence and Hypoplasia of the Tibia ; 1.1f Absent Fibula ; 1.1g Absence and Hypoplasia of the Femur ; 1.1h Terminal Transverse Limb Deficiency ; 1.2 Synostosis ; 1.2a Carpal and Tarsal Coalition ; 1.2b Metacarpophalangeal and Metatarsophalangeal Synostosis ; 1.2c Proximal Symphalangism ; 1.2d Distal Symphalangism ; 1.2e Humeroradial Synostosis ; 1.2f Radioulnar Synostosis ; 1.2g Tibiofibular Synostosis ; 1.2h Sirenomelia ; 1.3 Constriction Rings ; 1.4 Duplications, Excessive Partitions, and Accessory Bones ; 1.5 Bowing of Long Bones ; 1.6 Short Stature ; 1.7 Tall Stature ; 1.8 Limb Overgrowth ; 1.9 Increased Bone Density ; 1.10 Decreased Bone Density ; 1.11 Osteolysis ; 1.12 Anomalies of the Patella ; 1.13 Arthrogryposis ; 1.13a Amyoplasia ; 1.13b Distal arthrogryposis ; 1.13c Fetal akinesia phenotype ; 1.13d Pterygium syndromes ; Chapter 2 Hands/Feet ; David B. Everman ; Introduction ; Polydactyly ; 2.1a Preaxial Polydactyly ; 2.1b Postaxial Polydactyly ; 2.1c Mesoaxial Polydactyly ; Syndactyly ; 2.2a Syndactyly Type I ; 2.2b Syndactyly Type II ; 2.2c Syndactyly Type III ; 2.2d Syndactyly Type IV ; 2.2e Syndactyly Type V ; 2.2f Cenani-Lenz Syndactyly ; 2.2g Symbrachydactyly ; Brachydactyly ; 2.3a Brachydactyly Type A1 ; 2.3b Brachydactyly Type A2 ; 2.3c Brachydactyly Type A3 ; 2.3d Brachydactyly Type B ; 2.3e Brachydactyly Type C ; 2.3f Brachydactyly Type D ; 2.3g Brachydactyly Type E ; Deficiency ; 2.4a Preaxial Deficiency ; 2.4b Postaxial Deficiency ; 2.5 Terminal Transverse Deficiency ; 2.6 Split-Hand-Foot Malformation ; 2.7 Macrodactyly ; 2.8 Camptodactyly ; 2.9 Clubfoot ; Chapter 3 Pectoral and Pelvic Girdles ; Louanne Hudgins and Neda Zadeh ; Introduction ; 3.1 Clavicular Hypoplasia/Aplasia ; 3.2 Clavicular Pseudoarthrosis ; 3.3 Altered Shape and Other Abnormalities of the Clavicle ; 3.4 Sprengel Anomaly ; 3.5 Glenoid Hypoplasia ; 3.6 Anomalies of the Pelvic Bone ; 3.7 Developmental Dysplasia of the Hip ; 3.8 Coxa Vara ; 3.8 Coxa Valga ; Chapter 4 Spine and Ribs ; Louanne Hudgins and Neda Zadeh ; Introduction ; 4.1 Occipitalization of the Atlas ; 4.2 Aplasia/Hypoplasia of the Odontoid Process of the Axis ; 4.3 Klippel-Feil Anomaly ; 4.4 Segmentation Defects of the Vertebrae ; 4.5 Altered Vertebral Body Contour ; 4.6 Coronal Clefts of the Vertebrae ; 4.7 Coronal Clefts of the Vertebrae ; 4.8 Spondylolysis and Spondylolisthesis ; 4.9 Sacral Agenesis ; 4.10 Anomalies of the Ribs ; 4.11 Cervical Rib ; 4.12 Pectus Excavatum ; 4.13 Pectus Carinatum ; 4.14 Anomalies of the Sternum ; Chapter 5 Skull ; John M. Graham, Jr. and Pedro Sanchez-Lara ; Introduction ; 5.1 Craniosynostosis ; 5.2 Kleeblattschadel ; 5.3 Wide Cranial Sutures ; 5.4 Anomalies of Fontanelles ; 5.5 Parietal Foramina ; 5.6 Wormian Bones ; 5.7 Cranial Dermal Sinus ; 5.8 Scalp Vertex Aplasia ; 5.9 Thin Cranial Bones ; 5.10 Undermineralization of the Skull ; 5.11 Craniotabes ; 5.12 Thick Cranial Bones ; 5.13 Sclerosis and Hyperostosis of the Skull ; 5.14 Vertex Birth Molding ; 5.15 Breech Head and Bathrocephaly ; 5.16 Other Cranial Deformations ; 5.17 Anomalies of the Sella Turcica ; 5.18 Anomalies of the Foramen Magnum ; 5.19 Anomalies of Other Basal Foramina ; 5.20 Basilar Impression ; 5.21 Cephalohematoma ; 5.22 Miscellaneous Anomalies of the Skull ; Chapter 6 Facial Bones ; Karen Gripp ; Introduction ; 6.1 Metopic Synostosis ; 6.2 Orbital and Ocular Hypotelorism ; 6.3 Orbital and Ocular Hypertelorism ; 6.4 Zygomatic Hypoplasia ; 6.5 Absent Manidble ; 6.6 Congenital Asymmetry of Facial Skeleton ; 6.7 Micrognathia ; 6.8 Midface Retrusion and Hypoplasia ; 6.9 Midline Facial Clefting ; Chapter 7 Skin, Hair and Nails ; Mary Beth Dinulos ; Introduction ; 7.1 Aplasia Cutis Congenita ; 7.2 Ichthyosis ; 7.3 Ectodermal Dysplasias ; 7.4 Epidermolysis Bullosa ; 7.5 Cutaneous Hamartomas ; 7.6 Vascular Malformations ; 7.7 Pigmentation Abnormalities ; 7.8 Mosaicism ; 7.9 Epidermal Appendage Abnormalities ; 7.10 Disorders of Connective Tissue ; Chapter 8 Muscle ; Judith G. Hall ; Introduction ; 8.1a Hypertrophia Musculorum Vera ; 8.1b Kocher-Debre Semaalagne ; 8.1c Hyperekplexia ; 8.2 Generalized Decrease in Muscle Mass ; 8.3 Facial Muscle Deficiency ; 8.3a Deficiency of Extraocular Eye Muscles ; 8.3b Asymmetric Crying Face ; 8.3c Mobius Syndrome ; 8.3d Absence and Underdevelopment of the Tongue ; 8.3e Macroglossia ; 8.4 Diagraphagmatic Defect ; 8.5 Achalasia ; 8.6a Prune Belly Syndrome ; 8.6b Other Abdominal Wall ; 8.7a Poland Anomaly ; 8.7b Lower Limb Poland Anomaly ; 8.8 Other Muscle Hypoplasia ; 8.9a Muscle Variants ; 8.9b Muscle Variant Abnormalities Associated with Chromosomal Disorders ; 8.9c Accessory Muscles ; 8.9d Atavisms ; Chapter 9 Brain ; Alasdair G. W. Hunter ; Introduction ; 9.1 Microcephaly ; 9.2 Megalencephaly ; 9.3 Aprosencephaly-Atelencephaly ; 9.4 Holoprosencephaly ; 9.5 Malformations of Cortical Development ; 9.5a Lissencephaly ; 9.5b Pachygyria ; 9.5c polymicrogyria ; 9.5d Heterotopia ; 9.5e Focal Cortical Dysplasia ; 9.6 Agenesis of the Corpus Callosum ; 9.7 Cavum ; 9.8 Hydrocephalus ; 9.9 Colpocephaly ; 9.10 Hydranencephaly ; 9.11 Porencephaly ; 9.12 Cerebellar Abnormalities ; 9.13 Cystic Malformations ; 9.14 Chiari Malformations ; Chapter 10 Spinal Cord ; David Dyment ; Introduction ; 10.1 Primary Tethered Cord ; 10.2 Split Cord ; 10.3 Tailgut Cyst ; 10.4 Syringomelia ; 10.5 Myelocystocele ; 10.6 Meningocele ; 10.7 Neurenteric Malformation ; 10.8 Intraspinal Cysts ; Chapter 11 Brain and Spinal Cord ; Roger E. Stevenson ; Introduction ; 11.1 Anencephaly ; 11.2 Iniencephaly ; 11.3 Encephalocele ; 11.4 Spina Bifida ; Chapter 12 The Eye ; Elias I. Traboulsi, Shomoukh AlShamekh and Natario L. Couser ; Introduction ; 12.1 Anophthalmia ; 12.2 Microphthalmia and Typical Uveal Coloboma ; 12.3 Cyclopia and Synophthalmia ; 12.4 Cryptophthalmos ; 12.5 Blepharophimosis ; 12.6 Other Anomalies of the Eyelids ; 12.7 Corneal Malformations ; 12.8 Aniridia ; 12.9 Anterior Segment Dysgenesis ; 12.10 Peters Anomaly ; 12.11 Cataracts ; 12.12 persistent Hyperplastic Primary Vitreous ; 12.13 Optic Nerve Hypoplasia ; 12.14 Optic Pit ; 12.15 Morning Glory Disc Anomaly ; Chapter 13 External Ear ; Dorothy Katherine Grange ; Introduction ; 13.1 Absence of the External Ear ; 13.2 Small Ear ; 13.3 Large Ear ; 13.4 Cryptotia ; 13.5 Synotia and Otocephaly ; 13.6 Polyotia ; 13.7 Anomalies of the External Auditory Canal ; 13.8 Abnormal Ear Position ; 13.9 Lop-Cup Ear Anomaly ; 13.10 Protruding Ear ; 13.11 Variants of the Helix and Anthelix ; 13.12 Variants of the Ear Lobe ; 13.13 Auricular Tags ; 13.14 Auricular Pits ; 13.15 Ear Lobe Creases and Pits ; 13.16 Deformation of the Auricle ; Chapter 14 Middle Ear ; John D. Carey and Albert H. Park ; Introduction ; 14.1 Absence, Hypoplasia, and Malformations of the Malleus ; 14.2 Fusion Defects of the Malleus ; 14.3 Absence, Hypoplasia and Malformation of the Incus ; 14.4 Fusion Defects of the Incus ; 14.5 Absence, Hypoplasia and Malformation of the Stapes ; 14.6 Congenital Fixation of the Stapes ; 14.7 Absence of the Oval Window ; 14.8 Congenital Cholesteatoma ; 14.9 Persistence of the Stapedial Artery ; 14.10 Highly Placed Jugular Bulb ; Chapter 15 Inner Ear ; Eloise J. Prijoles ; Introduction ; 15.1 Inner Ear ; 15.2 Prelingual Hearing Loss ; Chapter 16 Nose ; Margaret P. Adam ; Introduction ; 16.1 Absent Nose ; 16.2 unilateral Arhinia ; 16.3 Small Nose ; 16.4 Cleft Ala Nasi ; 16.5 Bifid Nose ; 16.6 Choanal Atresia ; 16.7 Supernumerary Nares ; 16.8 Proboscis ; 16.9 Minor Anomalies of the Nose ; 16.10 Nasal Tooth ; 16.11 Deviation of the Nasal Septum ; 16.12 Turbinate Deformity ; 16.13 Arhinencephaly ; 16.14 Encephalocele Involving the Nose ; Chapter 17 Lips ; Marilyn Jones ; Introduction ; 17.1 Median Cleft Lip ; 17.2 Cleft Lip with or without Cleft Palate ; 17.3 Cleft Palate ; Chapter 18 Tongue ; Michael I. Cunningham ; Introduction ; 18.1 Absence and Underdevelopment of the Tongue ; 18.2 Macroglossia ; 18.3 Absence of Lingual Frenulum ; 18.4 Ankyloglossia ; 18.5 Glossopalatine Ankylosis ; 18.6 Supernumerary Tongue ; 18.7 Bifid Tongue ; 18.8 Fissured Tongue, Scrotal Tongue, Lingua Plicata ; 18.9 Median Rhomboid Glossitis ; 18.10 Pigmented Fungiform Papillae of the Tongue ; 18.11 Choristoma of the Tongue ; 18.12 Lymphangioma of the Tongue ; 18.13 Hemangioma of the Tongue ; 18.14 Mixed Hamartoma of the Tongue ; 18.15 Teratoma of the Tongue ; 18.16 Lingual Thyroid ; Chapter 19 Teeth ; Hitesh Kapadia ; Introduction ; 19.1 Absence of One or More Teeth ; 19.2 Macrodontia ; 19.3 Microdontia ; 19.4 Supernumerary Teeth ; 19.5 Abnormalities of Tooth Shape ; 19.6 Enamel Dysplasia ; 19.7 Dentin Dysplasia ; 19.8 Abnormalities of Tooth Eruption ; 19.9 Dental Malocclusion ; Chapter 20 Heart ; Paul Stephen Kruszka and Laura Olivieri ; Introduction ; 20.1 Atrial Septal Defect ; 20.2 Atrioventricular Septal Defect ; 20.3 Ventricular Septal Defect ; 20.4 Left Ventricular Outflow Obstruction ; 20.5 Right Outflow Tract Obstruction ; 20.6 Conotruncal Defects ; 20.7 Double Outlet Right Ventricle ; 20.8 Single Ventricle ; 20.9 Ebstein ; 20.10 Tricuspid Atresia ; 20.11 Pulmonary Venous Anomalies ; 20.12 Coronary Anomalies ; 20.13 Heterotaxy ; Chapter 21 Systemic Vasculature ; Lynne M. Bird ; Introduction ; 21.1 Interrupted Aortic Arch ; 21.2 Right Aortic Arch ; 21.3 Cervical Aortic Arch ; 21.4 Double Aortic Arch ; 21.5 Double Lumen Aortic Arch ; 21.6 Innominate Artery Variants ; 21.7 Subclavian Artery Variants ; 21.8 Patent Ductus Arteriosus ; 21.9 Coarctation of the Aorta ; 21.10 Peripheral Pulmonic Stenosis ; 21.11 Persistent Left Superior Vena Cava ; 21.12 Inferior Vena Cava Variants ; 21.13 Congenital Absence of Portal Vein ; 21.14 Congenital left Renal Vein Anomalies ; 21.15 patent Ductus Venosus ; 21.16 Scimitar Syndrome ; 21.17 Deep Vein Abnormalities ; Chapter 22 Lymphatic System ; Stavit Allon Shalev ; Introduction ; 22.1 Lymphedema ; 22.2 Intestinal Lymphangiectasia ; 22.3 Cystic Renal Lymphangiectasia ; 22.4 Generalized Lymphatic Dysplasia ; 22.5 Pulmonary Lymphangiectasia ; 22.6 Fetal Cystic Hygroma ; 22.7 Lymphangioma ; 22.8 Lymphangioleiomyomatosis ; Chapter 23 Spleen ; Arthur S. Aylsworth ; Introduction ; 23.1 Asplenia,Congenital,Nonsyndromal ; 23.2 Asplenia, Congenital, Syndromal ; 23.3 Polysplenia ; 23.4 Positional Alterations of the Spleen ; 23.5 Splenic Fusion ; 23.6 Accessory Spleen ; 23.7 Splenic Structural Variation ; 23.8 laterality: Situs Inversus ; 23.9 Laterality: Situs Ambiguus ; Chapter 24 Lower Respiratory Organs ; Caleb P. Bupp and Roger E. Stevenson ; Introduction ; 24.1 Bifid Epiglottis ; 24.2 Laryngeal Atresia, Webs, and Stenosis ; 24.3 Laryngeal Cleft ; 24.4 Absent Trachea ; 24.5 Tracheal Stenosis ; 24.6 Congenital Tracheal Cartilaginous Sleeve ; 24.7 Tracheoesophageal Fistula ; 24.8 Pulmonary Agenesis ; 24.9 Primary Pulmonary Hypoplasia ; 24.10 Congenital Cystic Adematoid Malformation ; 24.11 Congenital Lobar Emphysema ; 24.12 Diaphragmatic Hernia ; Chapter 25 Ventral Wall of the Trunk ; Cynthia J. Curry and Jacob Hogue ; Introduction ; 25.1 Sternal Defects ; 25.2 Ectopia Cordis ; 25.3 Gastroschisis ; 25.4 Umbilical Hernia ; 25.5 Omphalocele ; 25.6 Limb-Body Wall Defect ; 25.7 Exstrophy of the Bladder ; 25.8 Exstrophy of the Cloaca ; Chapter 26 Upper Gastrointestinal System ; H. Eugene Hoyme and Roger E. Stevenson ; Introduction ; 26.1 Pharyngeal Fistula ; 26.2 Congenital Pharangeal Diverticula ; 26.3 Esophageal Atresia and Tracheoesophageal Fistula ; 26.4 Esophageal Webs and Rings ; 26.5 Tubular Esophageal Duplications ; 26.6 Enterogenous Cysts ; 26.7 Esophageal Diverticula ; 26.8 Heterotopic Gastric Mucosa ; 26.9 Congenital Short Esophagus ; 26.10 Achalasia ; 26.11 Chalasia ; 26.12 Atresia and Stenosis of the Stomach ; 26.13 Microgastria ; 26.14 Diverticula of the Stomach ; 26.15 Duplication of the Stomach ; 26.16 Defects of Gastric Musculature ; 26.17 Malposition of the Stomach ; 26.18 Mucosal Heterotopia ; 26.19a Pyloric Atresia ; 25.19b Infantile Hypertrophic Pyloric Stenosis ; 26.20 Duodenal Atresia and Stenosis ; 26.21 Duodenal Duplications ; 26.22 Duodenal Diverticula ; 26.23 Malrotation of the Duodenum ; 26.24 Congenital Aganglionic Duodenum ; 26.25 Extrinsic Vascular Obstruction of the Duodenum ; 26.26 Congenital Paraduodenal Hernia ; Chapter 27 Small and Large Intestines ; Roger E. Stevenson ; Introduction ; 27.1 Jejunal Atresia and Stenosis ; 27.2 Ilial Atresia andr Stenosis ; 27.3 Colon Atresia andr Stenosis ; 27.4 Multiple Intestinal Atresias ; 27.5 Megacolon ; 27.6 Malrotation of Intestines ; 27.7 Duplications and Cysts of Intestine ; 27.8 Meckel Diverticulum ; Chapter 28 Rectum/Anus ; Cathy A. Stevens ; Introduction ; 28.1 Atresia of the Rectum and Anus ; 29.2 Rectal Duplication ; Chapter 29 Liver, Gall Bladder, and Pancreas ; Ian D. Krantz and Kosuke Izumi ; Introduction ; 29.1 Anomalies of Liver Shape and Lobation ; 29.2 Liver Dysplasia ; 29.3 Intrahepatic Biliary Duct Atresia ; 29.4 Agenesis of the Gallbladder ; 29.5 Extrahepatic Biliary Atresia ; 29.6 Cysts of Biliary Systems ; 29.7 Structural Variation of the Gallbladder ; 29.8 Absence of the Pancreas ; 29.9 Structural Variation of the Pancreas ; 29.10 Pancreas Cysts and Dysplasias ; 29.11 Pancreas Ectopia and Heterotopia ; Chapter 30 The Urinary Tract ; Jane Alison Evans ; Introduction ; 30.1 Renal Agenesis ; 30.2 Renal Hypoplasia ; 30.3 Autosomal Recessive Polycystic Kidney Disease ; 30.4 Autosomal Dominant Polycystic Kidney Disease ; 30.5 Renal Dysplasia ; 30.6 Familial Nephronophthisis/Medullary Cystic Disease ; 30.7 Medullary Sponge Kidney ; 30.8 Obstructive Renal Cystic Disease ; 30.9 Supernumerary Kidney ; 30.10 Horseshoe Kidneys ; 30.11 Renal Ectopia ; 30.12 Duplication of the Ureter ; 30.13 Absent Urinary Bladder ; 30.14 Congenital Megacystis ; 30.15 Bladder Diverticulum ; 30.16 Urachal Anomalies ; 30.17 Urethral Agenesis/Atresia ; 30.18 Posterior Urethral Valves and Urethral Stenosis ; 30.19 Urethral Duplication ; Chapter 31 Male Genital System ; Roger E. Stevenson ; Introduction ; 31.1 Absent Penis ; 31.2 Micropenis ; 31.3 Hypospadias ; 31.4 Epispadias ; 31.5 Hidden or Concealed Penis ; 31.6 Megalourethra ; 31.7 Diphallia ; 31.8 penoscrotal Transposition ; 31.9 Ectopia-Accessory Scrotum ; 31.10 Cryptorchidism ; 31.11 Absent or Small Testis ; 31.12 Polyorchidism ; 31.13 Ectopic Testis ; 31.14 Undermasculinization ; 31.15 Wolffian Duct Malformation ; 31.16 Persistent Mullerian Ducts ; 31.17 Splenogonadal Fusion ; 31.18 Inguinal hernia ; 31.19 Hydroceles ; Chapter 32 Female Genital System ; Leah W. Burke ; Introduction ; 32.1 Ovarian Dysgenesis ; 32.2 Mixed Gonadal Dysgenesis ; 32.3 Ovotesticular Disorder of Sexual Development ; 32.4 Ambiguous Genitalia ; 32.5 Mullerian Aplasia ; 32.6 Absence of Fallopian Tubes ; 32.7 Incomplete Mullerian Fusion ; 32.8 Cervical Aplasia ; 32.9 Vaginal Aplasia ; 32.10 Transverse Vaginal Septum ; 32.11 Longitudinal Vaginal Septum ; Chapter 33 Breasts ; Roger E. Stevenson ; Introduction ; 33.1 Amastia-Hypomastia ; 33.2 Enlarged Breasts ; 33.3 Supernumerary Nipples ; 33.4 Widely Spaced Nipples ; 33.5 Gynecomastia ; Chapter 34 Asymmetric Growth and Generalized Overgrowth ; Jennifer M. Kalish ; Introduction ; 34.1 Hemihypoplasia ; 34.2 Hemihyperplasia/Hemihypertrophy ; 34.3 Generalized Overgrowth ; Chapter 35 Twins ; Judith G. Hall ; Introduction ; 35.1 Dizygotic Twinning ; 35.2 Vanishing Twin ; 35.3 Fetus Papyraceus ; 35.4 Monozygotic Twins ; 35.5 Mirror Image Twins ; 35.6 Twin to Twin Transfusion ; 35.7 Acardia ; 35.8 Conjoined Twins ; 35.9 Parasitic Twins ; 35.10 Sacral Teratoma ; Chapter 36 Umbilical Cord and Placenta ; Isabel Filges ; Introduction ; 36.1 Molar Transformation of the Placenta ; 36.2 Placental Mesenchymal Dysplasia ; 36.3 Chorangioma ; 36.4 Placentation in Twinning ; 36.5 Umbilical Cord Loops ; 36.6 Umbilical Cord Knots ; 36.7 Umbilical Cord length ; 36.8 Umbilical Cord Insertion ; 36.9 Vascular Anomalies of the Umbilical Cord ; 36.10 Umbilical Cord Cyst ; 36.11 Umbilical Cord Hernia ; 36.12 Umbilical Cord Torsion ; 36.13 Umbilical Cord helical Ulceration ; 36.14 Anomalies of Umbilical Cord Separation ; 36.15 Umbilical Cord Diameter ; 36.16 Umbilical Cord Disruption ; Appendix ; Subject Index