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