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El. knyga: Human Malformations and Related Anomalies

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Edited by (Professor Emerita of Pediatrics and Medical Genetics, University of British Columbia), Edited by (Associate Clinical Geneticist, Greenwood Genetic Center), Edited by (Senior Clinical Geneticist, Greenwood Genetic Center), Edited by (Chief of Medical Genomics and A)
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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 to clinical presentation, associated anomalies, treatment, and prognosis.

Recenzijos

The real measure of a textbook is whether it is used. In this case, my review was delayed because this book was borrowed so frequently by colleagues that I was constantly chasing after it. It will be a key reference text for students, researchers, biomedical scientists, and clinicians particularly clinical geneticists, pediatricians, and obstetricians. * Journal of Medical Genetics * A distinctively valuable resource on the shelf of any neonatal unit for the generosity of its core information. * Archives of Diseases in Childhood * This book will be of great help to clinical geneticists. Highly recommended. * European Journal of Human Genetics *

Introduction 1(36)
Roger E. Stevenson
Judith G. Hall
1.1 Nomenclature
3(6)
1.2 Etiology and Pathogenesis
9(2)
1.3 Classification and Coding
11(1)
1.4 Genetic Causes of Congenital Anomalies
12(2)
1.5 Environmental Causes of Congenital Anomalies
14(6)
1.6 Human Anomalies with Unknown Causes
20(1)
1.7 Detection, Diagnosis, Evaluation, Management
20(17)
1 Limbs
37(76)
Roger E. Stevenson
Introduction
37(2)
1.1 Limb Deficiency
39(21)
1.1a Absence of Limb
47(1)
1.1b Absent Radius
48(2)
1.1c Absent Ulna
50(2)
1.1d Absence and Hypoplasia of the Humerus
52(1)
1.1e Absence and Hypoplasia of the Tibia
53(2)
1.1f Absence and Hypoplasia of the Fibula
55(1)
1.1g Absence and Hypoplasia of the Femur
56(2)
1.1h Terminal Transverse Limb Deficiency
58(2)
1.2 Synostosis
60(13)
1.2a Carpal Coalition and Tarsal Coalition
62(2)
1.2b Metacarpophalangeal and Metatarsophalangeal Synostosis
64(2)
1.2c Proximal Symphalangism
66(1)
1.2d Distal Symphalangism
67(1)
1.2e Humeroradial Synostosis
68(1)
1.2f Radioulnar Synostosis
69(2)
1.2g Tibiofibular Synostosis
71(1)
1.2h Sirenomelia
71(2)
1.3 Constriction Rings
73(4)
1.4 Excessive Partitions, Duplications, and Accessory Bones
77(6)
1.5 Bowing of Long Bones
83(4)
1.6 Short Stature
87(4)
1.7 Tall Stature
91(2)
1.8 Limb Overgrowth
93(4)
1.9 Increased Bone Density
97(3)
1.10 Decreased Bone Density
100(1)
1.11 Osteolysis
101(2)
1.12 Anomalies of the Patella
103(1)
1.13 Arthrogryposis
104(9)
1.13a Amyoplasia
108(1)
1.13b Distal Arthrogryposis
109(1)
1.13c Fetal Akinesia Phenotype
110(1)
1.13d Pterygium
111(2)
2 Hands And Feet
113(68)
David B. Everman
Introduction
113(1)
2.1 Polydactyly
114(12)
2.1a Preaxial Polydactyly
114(6)
2.1b Postaxial Polydactyly
120(3)
2.1c Mesoaxial Polydactyly
123(3)
2.2 Syndactyly
126(17)
2.2a Syndactyly Type I
126(2)
2.2b Syndactyly Type II
128(2)
2.2c Syndactyly Type III
130(2)
2.2d Syndactyly Type IV
132(2)
2.2e Syndactyly Type V
134(2)
2.2f Complete Syndactyly
136(2)
2.2g Cenani-Lenz Syndactyly
138(3)
2.2h Symbrachydactyly
141(2)
2.3 Brachydactyly
143(17)
2.3a Brachydactyly Type A1
143(3)
2.3b Brachydactyly Type A2
146(2)
2.3c Brachydactyly Type A3
148(1)
2.3d Brachydactyly Type B
149(3)
2.3e Brachydactyly Type C
152(3)
2.3f Brachydactyly Type D
155(2)
2.3g Brachydactyly Type E
157(3)
2.4 Osseous Deficiencies of the Hands and Feet
160(5)
2.4a Preaxial Deficiency
160(3)
2.4b Postaxial Deficiency
163(2)
2.5 Terminal Transverse Deficiency
165(4)
2.6 Split-Hand/Foot Malformation
169(4)
2.7 Macrodactyly
173(2)
2.8 Camptodactyly
175(3)
2.9 Clubfoot
178(3)
3 Pectoral And Pelvic Girdles
181(14)
Louanne Hudgins
Neda Zadeh
Introduction
181(1)
3.1 Clavicular Hypoplasia or Aplasia
182(1)
3.2 Clavicular Pseudoarthrosis
183(1)
3.3 Altered Shape and Other Abnormalities of the Clavicle
184(1)
3.4 Sprengel Anomaly
185(2)
3.5 Glenoid Hypoplasia
187(1)
3.6 Anomalies of the Pelvic Bones
188(1)
3.7 Developmental Dysplasia of the Hip
189(2)
3.8 Coxa Vara
191(1)
3.9 Coxa Valga
192(3)
4 Spine And Thoracic Cage
195(24)
Louanne Hudgins
Neda Zadeh
Introduction
195(1)
4.1 Occipitalization of the Atlas
196(1)
4.2 Aplasia/Hypoplasia of the Odontoid Process of the Axis
197(2)
4.3 Klippel-Feil Anomaly
199(2)
4.4 Segmentation Defects of the Vertebrae
201(2)
4.5 Altered Vertebral Body Contour
203(3)
4.6 Sagittal Clefts of the Vertebrae
206(1)
4.7 Coronal Clefts of the Vertebrae
207(1)
4.8 Spondylolysis and Spondylolisthesis
208(2)
4.9 Sacral Agenesis
210(1)
4.10 Anomalies of the Ribs
211(2)
4.11 Cervical Rib
213(1)
4.12 Pectus Excavatum
214(2)
4.13 Pectus Carinatum
216(1)
4.14 Anomalies of the Sternum
217(2)
5 Skull
219(46)
John M. Graham, Jr.
Pedro A. Sanchez-Lara
Introduction
219(2)
5.1 Craniosynostosis
221(5)
5.2 Kleeblattschadel
226(3)
5.3 Wide Cranial Sutures
229(1)
5.4 Anomalies of Fontanels
230(3)
5.5 Parietal Foramina
233(2)
5.6 Wormian Bones
235(3)
5.7 Cranial Dermal Sinus
238(1)
5.8 Scalp Vertex Aplasia and Atretric Encephaloceles
239(2)
5.9 Thin Cranial Bones
241(2)
5.10 Undermineralization of the Skull
243(1)
5.11 Craniotabes
244(2)
5.12 Thick Cranial Bones
246(2)
5.13 Sclerosis and Hyperostosis of the Skull
248(1)
5.14 Vertex Birth Molding
249(2)
5.15 Breech Head and Bathrocephaly
251(2)
5.16 Other Cranial Deformations Due to Abnormal Fetal Presentation
253(2)
5.17 Anomalies of the Sella Turcica
255(1)
5.18 Anomalies of the Foramen Magnum
256(2)
5.19 Anomalies of Other Basal Foramina and Canals
258(1)
5.20 Basilar Impression and Basilar Invagination
259(1)
5.21 Cephalohematoma and Caput Succedaneum
260(2)
5.22 Miscellaneous Anomalies of the Skull
262(3)
6 Facial Bones
265(16)
Karen Gripp
Introduction
265(1)
6.1 Metopic Synostosis
266(2)
6.2 Orbital and Ocular Hypotelorism
268(2)
6.3 Orbital and Ocular Hypertelorism
270(2)
6.4 Zygomatic Hypoplasia
272(1)
6.5 Absent Mandible
273(1)
6.6 Congenital Asymmetry of the Facial Skeleton
274(1)
6.7 Micrognathia
275(2)
6.8 Midface Retrusion and Hypoplasia
277(1)
6.9 Midline Facial Clefting
278(3)
7 Skin, Hair, And Nails
281(28)
Mary Beth Palko Dinulos
Introduction
281(2)
7.1 Aplasia Cutis Congenita
283(2)
7.2 Ichthyosis
285(1)
7.3 Ectodermal Dysplasias
286(2)
7.4 Epidermolysis Bullosa
288(3)
7.5 Cutaneous Hamartomas
291(2)
7.6 Vascular Malformations
293(3)
7.7 Pigmentation Abnormalities
296(4)
7.8 Mosaicism and the Lines of Blaschko
300(3)
7.9 Epidermal Appendage Abnormalities
303(4)
7.10 Disorders of Connective Tissue with Skin Involvement
307(2)
8 Muscle
309(20)
Judith G. Hall
Introduction
309(4)
8.1 Excess of Muscle
313(3)
8.1a Hypertrophia Musculorum Vera
313(1)
8.1b Kocher-Debre-Semelaigne
314(1)
8.1c Hyperekplexia
315(1)
8.2 Deficiency of Muscle
316(9)
8.2a Deficiency of Extraocular Eye Muscles
318(1)
8.2b Prune Belly
319(2)
8.2c Other Abdominal Wall Muscular Defects
321(1)
8.2d Poland Anomaly
322(2)
8.2e Lower Limb Poland Type Anomaly
324(1)
8.2f Other Muscle Hypoplasias
324(1)
8.3 Muscle Variants
325(4)
8.3a Muscle Variants Associated with Chromosomal Disorders
326(1)
8.3b Accessory Muscles
326(1)
8.3c Atavisms
327(2)
9 Brain
329(42)
Alasdair G. W. Hunter
Introduction
329(2)
9.1 Microcephaly
331(2)
9.2 Megalencephaly
333(1)
9.3 Aprosencephaly/Atelencephaly
334(2)
9.4 Holoprosencephaly
336(2)
9.5 Malformations of Cortical Development
338(9)
9.5a Lissencephaly
339(2)
9.5b Pachygyria
341(1)
9.5c Polymicrogyria
342(2)
9.5d Heterotopias
344(1)
9.5e Focal Cortical Dysplasia
345(2)
9.6 Agenesis of the Corpus Callosum
347(2)
9.7 Cavum
349(2)
9.8 Hydrocephalus
351(2)
9.9 Colpocephaly
353(2)
9.10 Hydranencephaly
355(2)
9.11 Porencephaly
357(3)
9.12 Cerebellar Abnormalities
360(3)
9.13 Cystic Malformations
363(4)
9.14 Chiari Malformations
367(4)
10 Spinal Cord
371(14)
David Dyment
Introduction
371(1)
10.1 Primary Tethered Cord
372(1)
10.2 Split Cord Malformation
373(2)
10.3 Tailgut Cyst
375(1)
10.4 Syringomelia
376(2)
10.5 Myelocystocele
378(1)
10.6 Anterior and Lateral Meningoceles
379(2)
10.7 Neurenteric Malformation
381(1)
10.8 Intraspinal (Nonneurenteric) Cysts
382(3)
11 Brain And Spinal Cord
385(18)
Roger E. Stevenson
Introduction
385(4)
11.1 Anencephaly
389(3)
11.2 Iniencephaly
392(2)
11.3 Encephalocele
394(5)
11.4 Spina Bifida
399(4)
12 The Eye
403(34)
Elias I. Traboulsi
Shomoukh Alshamekh
Natario L. Couser
Introduction
403(1)
12.1 Anophthalmia
404(2)
12.2 Microphthalmia and Typical Uveal Coloboma
406(2)
12.3 Cyclopia and Synophthalmia
408(2)
12.4 Cryptophthalmos
410(2)
12.5 Blepharophimosis
412(2)
12.6 Other Anomalies of the Eyelids
414(3)
12.7 Corneal Malformations
417(2)
12.8 Aniridia
419(2)
12.9 Anterior Segment Dysgenesis
421(3)
12.10 Peters Anomaly
424(2)
12.11 Congenital Cataract
426(2)
12.12 Persistent Hyperplastic Primary Vitreous
428(3)
12.13 Optic Nerve Hypoplasia
431(3)
12.14 Optic Pit
434(1)
12.15 Morning Glory Disc Anomaly
435(2)
13 External Ear
437(30)
Dorothy K. Grange
Introduction
437(1)
13.1 Absence, Malformation, or Hypoplasia of the External Ear
438(4)
13.2 Small Ear
442(1)
13.3 Large Ear
443(2)
13.4 Cryptotia
445(1)
13.5 Synotia and Otocephaly
446(2)
13.6 Polyotia
448(1)
13.7 Anomalies of the External Auditory Canal
449(2)
13.8 Abnormal Ear Position
451(3)
13.9 Lop/Cup Ear Anomaly
454(2)
13.10 Protruding Ear
456(1)
13.11 Variants of the Helix and Anthelix Configuration
457(3)
13.12 Variants of the Ear Lobe
460(1)
13.13 Auricular Tags
461(2)
13.14 Auricular Pits
463(1)
13.15 Ear Lobe Creases and Pits
464(1)
13.16 Deformation of the Auricle
465(2)
14 Middle Ear
467(14)
John D. Carey
Albert H. Park
Introduction
467(3)
14.1 Absence, Hypoplasia, and Malformations of the Malleus
470(1)
14.2 Fusion Defects of the Malleus
471(1)
14.3 Absence, Hypoplasia, and Malformation of the Incus
472(1)
14.4 Fusion Defects of the Incus
473(1)
14.5 Absence, Hypoplasia, and Malformation of the Stapes
473(2)
14.6 Congenital Fixation of the Stapes
475(1)
14.7 Absence of the Oval Window
476(1)
14.8 Congenital Cholesteatoma
477(1)
14.9 Persistence of the Stapedial Artery
478(1)
14.10 Highly Placed Jugular Bulb
479(2)
15 Inner Ear
481(6)
Eloise J. Prijoles
Introduction
481(1)
15.1 Inner Ear Malformation
482(3)
15.2 Prelingual Hearing Loss
485(2)
16 Nose
487(24)
Margaret P. Adam
Introduction
487(1)
16.1 Absent Nose
488(1)
16.2 Unilateral Arhinia
489(2)
16.3 Small Nose
491(1)
16.4 Cleft Ala Nasi
492(1)
16.5 Bifid Nose
493(1)
16.6 Choanal Atresia
494(1)
16.7 Supernumerary Naris
495(2)
16.8 Proboscis
497(3)
16.9 Minor Anomalies of the Nose
500(5)
16.10 Nasal Tooth
505(1)
16.11 Deviation of the Nasal Septum
505(1)
16.12 Turbinate Hypertrophy
506(1)
16.13 Arhinencephaly
507(1)
16.14 Encephalocele Involving the Nose
508(3)
17 Lips And Palate
511(10)
Marilyn Jones
Introduction
511(2)
17.1 Median Cleft Lip
513(1)
17.2 Cleft Lip with or without Cleft Palate
514(3)
17.3 Cleft Palate
517(4)
18 The Tongue
521(26)
Michael L. Cunningham
Introduction
521(1)
18.1 Absence and Underdevelopment of the Tongue
522(2)
18.2 Macroglossia
524(2)
18.3 Absence of Lingual Frenulum
526(1)
18.4 Ankyloglossia: Partial, Complete, and Lateral
527(1)
18.5 Glossopalatine Ankylosis
528(1)
18.6 Supernumerary Tongue
529(1)
18.7 Bifid Tongue
530(1)
18.8 Fissured Tongue
531(1)
18.9 Median Rhomboid Glossitis
532(2)
18.10 Pigmented Fungiform Papillae of the Tongue
534(1)
18.11 Choristoma of the Tongue
535(4)
18.12 Lymphangioma of the Tongue
539(1)
18.13 Hemangioma of the Tongue
540(1)
18.14 Mixed Hamartoma of the Tongue
541(1)
18.15 Teratoma of the Tongue
542(1)
18.16 Lingual Thyroid
543(4)
19 Teeth
547(18)
Hitesh Kapadia
Introduction
547(2)
19.1 Absence of One or More Teeth
549(2)
19.2 Macrodontia
551(1)
19.3 Microdontia
552(1)
19.4 Supernumerary Teeth
553(1)
19.5 Abnormalities of Tooth Shape
554(1)
19.6 Enamel Dysplasia
555(3)
19.7 Dentin Dysplasia
558(3)
19.8 Abnormalities of Tooth Eruption
561(1)
19.9 Dental Malocclusion
562(3)
20 Heart
565(42)
Paul Stephen Kruszka
Laura Olivieri
Introduction
565(7)
20.1 Atrial Septal Defect
572(2)
20.2 Atrioventricular Septal Defect
574(2)
20.3 Ventricular Septal Defect
576(3)
20.4 Left Ventricular Outflow Obstruction
579(4)
20.5 Right Outflow Tract Obstructive Lesions
583(3)
20.6 Conotruncal Defects
586(4)
20.7 Single Ventricle
590(2)
20.8 Double Outlet Right Ventricle
592(2)
20.9 Ebstein Anomaly
594(2)
20.10 Tricuspid Atresia
596(2)
20.11 Pulmonary Venous Anomalies
598(2)
20.12 Coronary Anomalies
600(2)
20.13 Heterotaxy
602(5)
21 Systemic Vasculature
607(24)
Lynne M. Bird
Introduction
607(1)
21.1 Interrupted Aortic Arch
608(1)
21.2 Right Aortic Arch
609(2)
21.3 Cervical Aortic Arch
611(1)
21.4 Double Aortic Arch
612(1)
21.5 Double-Lumen Aortic Arch
613(1)
21.6 Innominate Artery Variants
614(2)
21.7 Subclavian Artery Variants
616(1)
21.8 Patent Ductus Arteriosus
617(2)
21.9 Coarctation of the Aorta
619(2)
21.10 Peripheral Pulmonary Artery Stenosis
621(1)
21.11 Persistent Left Superior Vena Cava
622(2)
21.12 Inferior Vena Cava Variants
624(1)
21.13 Congenital Absence of the Portal Vein
625(1)
21.14 Congenital Left Renal Vein Anomalies
626(1)
21.15 Patent Ductus Venosus
627(1)
21.16 Scimitar Anomaly
627(1)
21.17 Deep Vein Abnormalities
628(3)
22 Lymphatic System
631(14)
Stavit Allon Shalev
Introduction
631(2)
22.1 Lymphedema
633(2)
22.2 Intestinal Lymphangiectasia
635(1)
22.3 Cystic Renal Lymphangiectasia
636(1)
22.4 Generalized Lymphatic Dysplasia
636(1)
22.5 Pulmonary Lymphangiectasia
637(1)
22.6 Fetal Cystic Hygroma
638(2)
22.7 Lymphangioma
640(2)
22.8 Lymphangioleiomyomatosis
642(3)
23 Spleen
645(14)
Arthur S. Aylsworth
Introduction
645(1)
23.1 Asplenia, Congenital, Nonsyndromal
646(1)
23.2 Asplenia, Congenital, Syndromal
647(2)
23.3 Polysplenia
649(1)
23.4 Positional Alterations of the Spleen
650(1)
23.5 Splenic Fusion to Other Organs
651(2)
23.6 Accessory Spleens
653(1)
23.7 Splenic Structural Variation
654(1)
23.8 Laterality: Situs Inversus
654(2)
23.9 Laterality: Situs Ambiguus
656(3)
24 Lower Respiratory Organs
659(22)
Caleb P. Bupp
Roger E. Stevenson
Introduction
659(1)
24.1 Bifid Epiglottis
660(1)
24.2 Laryngeal Atresia, Web, and Stenosis
661(3)
24.3 Laryngeal Cleft
664(2)
24.4 Absent Trachea
666(1)
24.5 Tracheal Stenosis
667(2)
24.6 Congenital Tracheal Cartilaginous Sleeve
669(1)
24.7 Tracheoesophageal Fistula
670(1)
24.8 Pulmonary Agenesis/Aplasia
671(2)
24.9 Primary Pulmonary Hypoplasia
673(1)
24.10 Congenital Cystic Adenomatoid Malformation
674(2)
24.11 Congenital Lobar Emphysema
676(1)
24.12 Diaphragmatic Hernia
677(4)
25 Ventral Wall Of The Trunk
681(16)
Cynthia J. R. Curry
Jacob Hogue
Introduction
681(2)
25.1 Sternal Defects
683(2)
25.2 Ectopia Cordis
685(1)
25.3 Gastroschisis
686(2)
25.4 Umbilical Hernia
688(1)
25.5 Omphalocele
689(2)
25.6 Limb-Body Wall Defect
691(2)
25.7 Exstrophy of the Bladder
693(1)
25.8 Exstrophy of the Cloaca
694(3)
26 Upper Gastrointestinal Tract
697(34)
H. Eugene Hoyme
Roger E. Stevenson
Introduction
697(3)
26.1 Pharyngeal Fistulas, Sinuses, and Cysts
700(2)
26.2 Congenital Pharyngeal Diverticula
702(1)
26.3 Esophageal Atresia and Tracheoesophageal Fistula
703(3)
26.4 Esophageal Webs and Rings
706(1)
26.5 Tubular Esophageal Duplications
706(1)
26.6 Enterogenous Cysts
707(1)
26.7 Esophageal Diverticula
708(1)
26.8 Heterotopic Gastric Mucosa in the Esophagus
709(1)
26.9 Congenital Short Esophagus
710(1)
26.10 Achalasia
711(1)
26.11 Chalasia
712(1)
26.12 Atresia and Stenosis of the Stomach
713(1)
26.13 Microgastria
714(1)
26.14 Diverticula of the Stomach
715(1)
26.15 Duplication of the Stomach
715(1)
26.16 Defects of Gastric Musculature
716(1)
26.17 Malposition of the Stomach
717(1)
26.18 Mucosal Heterotopia
718(1)
26.19 Anomalies of the Pylorus
719(3)
26.19a Pyloric Atresia
719(2)
26.19b Infantile Hypertrophic Pyloric Stenosis
721(1)
26.20 Duodenal Atresia and Stenosis
722(2)
26.21 Duodenal Duplications
724(1)
26.22 Duodenal Diverticula
725(2)
26.23 Malrotation of the Duodenum
727(1)
26.24 Congenital Aganglionic Duodenum
727(1)
26.25 Extrinsic Vascular Obstruction of the Duodenum
728(1)
26.26 Congenital Paraduodenal Hernia
729(2)
27 Small And Large Intestines
731(16)
Roger E. Stevenson
Introduction
731(1)
27.1 Jejunal Atresia and Stenosis
732(2)
27.2 Ilial Atresia and Stenosis
734(2)
27.3 Colon Atresia and Stenosis
736(1)
27.4 Multiple Intestinal Atresias
737(1)
27.5 Megacolon
738(3)
27.6 Malrotation of Intestines
741(1)
27.7 Duplications and Cysts of Intestines
742(3)
27.8 Meckel Diverticulum
745(2)
28 Rectum And Anus
747(6)
Cathy A. Stevens
Introduction
747(1)
28.1 Atresia of the Rectum and Anus
748(3)
28.2 Rectal Duplication
751(2)
29 Liver, Gall Bladder, And Pancreas
753(34)
Ian D. Krantz
Kosuke Izumi
Introduction
753(1)
29.1 Anomalies of Liver Shape and Lobation
754(4)
29.2 Liver Dysplasia/Ductal Plate Malformations
758(4)
29.3 Intrahepatic Biliary Duct Atresia and Hypoplasia
762(3)
29.4 Agenesis of the Gallbladder
765(2)
29.5 Extrahepatic Biliary Atresia
767(4)
29.6 Cysts of the Biliary System
771(2)
29.7 Structural Variation of the Gallbladder and Extrahepatic Ducts
773(4)
29.8 Absence of the Pancreas
777(1)
29.9 Structural Variation of the Pancreas
778(4)
29.10 Pancreas Cysts and Dysplasias
782(2)
29.11 Pancreas Ectopia and Heterotopia
784(3)
30 The Urinary Tract
787(36)
Jane Alison Evans
Introduction
787(4)
30.1 Renal Agenesis
791(2)
30.2 Renal Hypoplasia
793(2)
30.3 Autosomal Recessive Polycystic Kidney Disease
795(2)
30.4 Autosomal Dominant Polycystic Kidney Disease
797(2)
30.5 Renal Dysplasia
799(2)
30.6 Familial Nephronophthisis/Medullary Cystic Disease
801(1)
30.7 Medullary Sponge Kidney
802(2)
30.8 Obstructive Renal Cystic Disease
804(2)
30.9 Supernumerary Kidney
806(1)
30.10 Horseshoe Kidney
807(2)
30.11 Renal Ectopia
809(2)
30.12 Duplication of the Ureter
811(1)
30.13 Absent Urinary Bladder
812(1)
30.14 Congenital Megacystis
813(1)
30.15 Bladder Diverticulum
814(1)
30.16 Urachal Anomalies
815(2)
30.17 Urethral Agenesis or Atresia
817(2)
30.18 Posterior Urethral Valves and Urethral Stenosis
819(2)
30.19 Urethral Duplication
821(2)
31 Male Genital System
823(30)
Roger E. Stevenson
Introduction
823(4)
31.1 Absent of the Penis
827(1)
31.2 Micropenis
828(3)
31.3 Hypospadias
831(2)
31.4 Epispadias
833(1)
31.5 Hidden or Concealed Penis
834(1)
31.6 Megalourethra
835(2)
31.7 Diphallia
837(1)
31.8 Penoscrotal Transposition
838(2)
31.9 Ectopic/Accessory Scrotum
840(1)
31.10 Cryptorchidism
840(2)
31.11 Absent or Small Testis
842(2)
31.12 Polyorchidism
844(1)
31.13 Ectopic Testis
844(1)
31.14 46, XY Disorder of Sex Development
845(3)
31.15 Wolffian Duct Malformations
848(1)
31.16 Persistent Mullerian Ducts
849(1)
31.17 Splenogonadal Fusion
850(1)
31.18 Inguinal Hernia
850(2)
31.19 Hydrocele
852(1)
32 Female Genital System
853(18)
Leah W. Burke
Introduction
853(1)
32.1 Ovarian Dysgenesis
854(2)
32.2 Mixed Gonadal Dysgenesis
856(2)
32.3 Ovotesticular Disorder of Sex Development
858(1)
32.4 Ambiguous Genitalia
859(2)
32.5 Mullerian Aplasia
861(2)
32.6 Absence of the Fallopian Tube
863(1)
32.7 Incomplete Mullerian Fusion
863(2)
32.8 Cervical Aplasia
865(1)
32.9 Vaginal Aplasia
866(1)
32.10 Transverse Vaginal Septum
867(2)
32.11 Longitudinal Vaginal Septum
869(2)
33 Breasts
871(14)
Roger E. Stevenson
Introduction
871(1)
33.1 Amastia and Hypomastia
872(2)
33.2 Enlarged Breasts
874(2)
33.3 Supernumerary Breasts and Nipples
876(3)
33.4 Widely Spaced Nipples
879(1)
33.5 Gynecomastia
879(6)
34 Asymmetric Growth And Generalized Overgrowth
885(10)
Jennifer M. Kalish
Introduction
885(1)
34.1 Hemihypoplasia/Hemihypotrophy
886(2)
34.2 Hemihyperplasia/Hemihypertrophy
888(3)
34.3 Generalized Overgrowth
891(4)
35 Twins
895(18)
Judith G. Hall
Introduction
895(4)
35.1 Dizygotic Twins
899(1)
35.2 Vanishing Twin
900(1)
35.3 Fetus Papyraceus
901(1)
35.4 Monozygotic Twins
902(4)
35.5 Mirror Image Twins
906(1)
35.6 Twin to Twin Transfusion Syndrome
906(1)
35.7 Acardia
907(1)
35.8 Conjoined Twins
908(2)
35.9 Parasitic Twins
910(1)
35.10 Sacral Teratoma
910(3)
36 Umbilical Cord And Placenta
913(26)
Isabel Filges
Introduction
913(1)
36.1 Molar Transformation of the Placenta
914(2)
36.2 Placental Mesenchymal Dysplasia
916(1)
36.3 Chorangioma
917(1)
36.4 Placentation in Twinning
918(2)
36.5 Umbilical Cord Loops
920(1)
36.6 Umbilical Cord Knots
921(2)
36.7 Umbilical Cord Length
923(1)
36.8 Anomalies of Umbilical Cord Insertion
924(2)
36.9 Vascular Anomalies of the Umbilical Cord
926(2)
36.10 Umbilical Cord Cyst
928(1)
36.11 Umbilical Cord Hernia
929(2)
36.12 Umbilical Cord Torsion
931(1)
36.13 Umbilical Cord Helical Ulceration
932(2)
36.14 Umbilical Cord Separation
934(1)
36.15 Umbilical Cord Diameter Anomalies
935(1)
36.16 Umbilical Cord Disruption
936(3)
Appendix 939(30)
Index 969
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.
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