Contents

Preface v

Contributors ix

1 Embryology 1

Cynthia S. Cook, Kathleen K. Sulik, and

Kenneth W. Wright

2 Breaking the News: The Role of the Physician . . . 62

Nancy Chernus-Mansfield

3 Chromosomal Anomalies and the Eye 76

J. Bronwyn Bateman

4 Craniofacial Syndromes and Malformations 146

Marilyn T. Miller and Anna Newlin

5 Connective Tissue, Skin, and Bone Disorders . . . . 227

Elias I. Traboulsi

6 Neurocutaneous Syndromes 291

Maria A. Musarella

7 Metabolic Diseases 350

Lois J. Martyn

8 Selected Genetic Syndromes with

Ophthalmic Features 430

Natalie C. Kerr and Eniko Karman Pivnick

9 Infectious Diseases 483

R. Christopher Walton, Roger K. George, and Alissa A. Craft

10 Ocular Manifestations of Inherited Diseases 526

Maya Eibschitz-Tsimhoni

Index 611

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