Atlas of Genetic Diagnosis and Counseling

Harold Chen, MD, shares his almost 40 years of clinical genetics practice in a comprehensive pictorial atlas of 203
genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder,
describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including
recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings,
cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with
varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case
histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available. The Atlas
of Genetic Diagnosis and Counseling will help all physicians to understand and recognize genetic diseases and
malformation syndromes and better evaluate, counsel, and manage affected patients.

Table of Contents Back to Book Detail


Acardia

Achondrogenesis

Achondroplasia

Adams-Oliver Syndrome

Agnathia

Aicardi Syndrome

Alagille Syndrome

Albinism

Amniotic Band Syndrome

Androgen Insensitivity Syndrome

Angelman Syndrome

Apert Syndrome

Aplasia Cutis Congenita

Arthrogryposis Multiplex Congenita

Asphyxiating Thoracic Dystrophy

Ataxia Telangiectasia

Atelosteogenesis

Autism

Beckwith-Wiedemann Syndrome

Behcet Disease

Bladder Exstrophy

Body Stalk Anomaly

Branchial Cleft Anomalies

Campomelic Dysplasia

Cat Eye Syndrome

Cerebro-Costo-Mandibular Syndrome

Charcot-Marie-Tooth Disease

CHARGE Association

Cherubism

Chiari Malformation

Chondrodysplasia Punctata

Chromosome Abnormalities in Pediatric Solid Tumors

Cleft Lip and/or Cleft Palate

Cleidocranial Dysplasia

Cloacal Exstrophy

Collodion Baby

Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency)

Congenital Cutis Laxa

Congenital Cytomegalovirus Infection

Congenital Generalized Lipodystrophy

Congenital Hydrocephalus

Congenital Hypothyroidism

Congenital Muscular Dystrophy

Congenital Toxoplasmosis

Conjoined Twins

Corpus Callosum Agenesis/Dysgenesis

Craniometaphyseal Dysplasia

Cri-Du-Chat Syndrome

Crouzon Syndrome

Cystic Fibrosis

Dandy-Walker Malformation

De Lange Syndrome

Del(22q11.2) Syndromes

Diabetic Embryopathy

Down Syndrome

Dyschondrosteosis (Leri-Weill Syndrome) and Langer Mesomelic Dysplasia

Dysmelia (Limb Deficiency/Reduction)

Dysplasia Epiphysealis Hemimelica

Dystonia

Dystrophinopathies

Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) Syndrome

Ehlers-Danlos Syndrome

Ellis-van Creveld Syndrome

Enchondromatosis (Maffucci Syndrome; Ollier Syndrome)

Epidermolysis Bullosa

Epidermolytic Palmoplantar Keratoderma

Faciogenital (Aarskog) Dysplasia

Facioscapulohumeral Muscular Dystrophy

Familial Adenomatous Polyposis

Familial Hyperlysinemia

Fanconi Anemia

Femoral Hypoplasia-Unusual Facies Syndrome

Fetal Akinesia Syndrome

Fetal Alcohol Syndrome

Fetal Hydantoin Syndrome

Fibrodysplasia Ossificans Progressiva

Finlay-Marks Syndrome

Fragile X Syndrome

Fraser Syndrome

Freeman-Sheldon Syndrome

Frontonasal Dysplasia

Galactosemia

Gastroschisis

Gaucher Disease

Generalized Arterial Calcification of Infancy

Glucose-6-Phosphate Dehydrogenase Deficiency

Glycogen Storage Disease, Type II

Goldenhar Syndrome

Hallermann-Streiff Syndrome

Harlequin Ichthyosis (Harlequin Fetus)

Hemophilia A

Hereditary Hemochromatosis

Hereditary Multiple Exostoses

Holoprosencephaly

Holt-Oram Syndrome

Hydrops Fetalis

Hyper-IgE Syndrome

Hypochondroplasia

Hypoglossia-Hypodactylia Syndrome

Hypohidrotic Ectodermal Dysplasia

Hypomelanosis of Ito

Hypophosphatasia

Incontinentia Pigmenti

Infantile Myofibroma