Atlas of Genetic Diagnosis and Counseling

1. Front Matter

   Pages i-xi

   PDF

2. Acardia

   Pages 1-6

3. Achondrogenesis

   Pages 7-14

4. Achondroplasia

   Pages 15-22

5. Adams-Oliver Syndrome

   Pages 23-25

6. Agnathia

   Pages 26-28

7. Aicardi Syndrome

   Pages 29-31

8. Alagille Syndrome

   Pages 32-35

9. Albinism

   Pages 36-41

10. Amniotic Band Syndrome

    Pages 42-49

11. Androgen Insensitivity Syndrome

    Pages 50-55

12. Angelman Syndrome

    Pages 56-60

13. Apert Syndrome

    Pages 61-69

14. Aplasia Cutis Congenita

    Pages 70-73

15. Arthrogryposis Multiplex Congenita

    Pages 74-83

16. Asphyxiating Thoracic Dystrophy

    Pages 84-91

17. Ataxia Telangiectasia

    Pages 92-95

18. Atelosteogenesis

    Pages 96-101

19. Autism

    Pages 102-107

20. Beckwith-Wiedemann Syndrome

    Pages 109-113

This book, Atlas of Genetic Diagnosis and understanding of these conditions and their care of Counseling, reflects my experience in 38 years of affected individuals and their families. It is also my clinical genetics practice. During this time, I have intention to bring the basic science and clinical m- cared for many patients and their families and taught icine together for the readers. Atlas of Genetic innumerable medical students, residents, and prac- Diagnosis and Counseling is designed for physicians ticing physicians. As an academic physician, I have involved in the evaluation and counseling of patients found that a picture is truly “worth a thousand with genetic diseases, malformations, and malfor- words,” especially in the field of dysmorphology. tion syndromes, including medical geneticists, Over the years, I have compiled photographs of my genetic counselors, pediatricians, neonatologists, patients, which are incorporated into this book to developmental pediatricians, perinatologists, obs- illustrate selected genetic disorders, malformations, tricians, neurologists, pathologists, and any phy- and malformation syndromes. A detailed outline of cians and health care professionals caring for each disorder is provided, describing the genetics, handicapped children such as craniofacial surgeons, basic defects, clinical features, diagnostic investiga- plastic surgeons, otolaryngologists, and orthopedics. tions, and genetic counseling, including recurrence I am grateful to many individuals for their risk, prenatal diagnosis, and management. Color invaluable help in reading and providing cases for photographs are used to illustrate the clinical fea- illustration.

"...a high quality book, with excellent clinical information." -Weighted Numerical Score: 81 - 3 Stars!-Doody's Health Science Book Review Journal

 

"...an excellent contribution to the field of dysmorphology.  It differs from others in the field in the simplicity of presentation of the information, which makes it useful to a wide variety of physicians." -Weighted Numerical Score: 81 - 3 Stars!-Doody's Health Science Book Review Journal

 

"...help neonatologists, obstetricians and pediatricians to reach a diagnosis and handle the genetic entity." - Pediatric Endocrinology Reviews

"...provide solid starting points for workers and will be especially valuable for students, residents, fellows, general practitioners, or others who do not encounter malformations regularly." -Pediatric and Developmental Pathology

• Pediatrics, Obstetrics and Gynecology, and Pathology, Louisiana State University Health Science Center, Shreveport

  Harold Chen

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