Human Malformations and Related Anomalies (3rd edition)

ISBN : 9780199386031

Roger E. Stevenson; Judith G. Hall; David B. Everman; Benjamin D. Solomon
1000 ページ
216 x 279 mm
Oxford Monographs on Medical Genetics

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 to clinical presentation, associated anomalies, treatment, and prognosis.


Roger E. Stevenson and Judith G. Hall
Chapter 1 Limbs
Roger E. Stevenson
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
2.1a Preaxial Polydactyly
2.1b Postaxial Polydactyly
2.1c Mesoaxial Polydactyly
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
15.1 Inner Ear
15.2 Prelingual Hearing Loss
Chapter 16 Nose
Margaret P. Adam
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
17.1 Median Cleft Lip
17.2 Cleft Lip with or without Cleft Palate
17.3 Cleft Palate
Chapter 18 Tongue
Michael I. Cunningham
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
34.1 Hemihypoplasia
34.2 Hemihyperplasia/Hemihypertrophy
34.3 Generalized Overgrowth
Chapter 35 Twins
Judith G. Hall
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
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
Subject Index


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 & Women's Health Centre of British Columbia in Vancouver.; David B. Everman, MD, is an Associate Clinical Geneticist at Greenwood Genetic Center in Greenville, South Carolina.; Benjamin D. Solomon, MD, is Chief of the Division of Medical Genomics at the Inova Translational Medicine Institute and Associate Professor of Pediatrics at the Virginia Commonwealth University School of Medicine.