Contents 2(1)

vi i i CONTENTS

Faciogenital (Aarskog) Dysplasia ..............371

Facioscapulohumeral Muscular Dystrophy.......375

Familial Adenomatous Polyposis...............380

Familial Hyperlysinemia .....................386

Fanconi Anemia............................389

Femoral Hypoplasia-Unusual Facies Syndrome ... 395

Fetal Akinesia Syndrome.....................398

Fetal Alcohol Syndrome......................403

Fetal Hydantoin Syndrome ...................407

Fibrodysplasia Ossificans Progressiva...........410

Finlay-Marks Syndrome......................415

Fragile X Syndrome.........................417

Fraser Syndrome ...........................423

Freeman-Sheldon Syndrome ..................427

Frontonasal Dysplasia .......................431

Galactosemia ..............................437

Gastroschisis...............................442

Gaucher Disease............................446

Generalized Arterial Calcification of Infancy .....452

Glucose-6-Phosphate Dehydrogenase Deficiency . .. 457

Glycogen Storage Disease, Type II .............461

Goldenhar Syndrome........................465

Hallermann-Streiff Syndrome .................469

Harlequin Ichthyosis (Harlequin Fetus)..........473

Hemophilia A..............................476

Hereditary Hemochromatosis..................482

Hereditary Multiple Exostoses.................487

Holoprosencephaly..........................493

Holt-Oram Syndrome........................502

Hydrops Fetalis ............................506

Hyper-IgE Syndrome........................513

Hypochondroplasia..........................517

Hypoglossia-Hypodactylia Syndrome...........521

Hypohidrotic Ectodermal Dysplasia ............524

Hypomelanosis of Ito........................528

Hypophosphatasia ..........................532

Incontinentia Pigmenti.......................539

Infantile Myofibromatosis ....................545

Ivemark Syndrome..........................549

Jarcho-Levin Syndrome......................553

Kabuki Syndrome...........................559

Kasabach-Merritt Syndrome ..................563

KID Syndrome.............................567

Klinefelter Syndrome........................570

Klippel-Feil Syndrome.......................575

Klippel-Trenaunay Syndrome .................580

Kniest Dysplasia............................585

Larsen Syndrome...........................589

LEOPARD Syndrome .......................597

Lesch-Nyhan Syndrome......................600

Lethal Multiple Pterygium Syndrome...........604

Lowe Syndrome............................613

Marfan Syndrome...........................619

McCune-Albright Syndrome ..................630

Meckel-Gruber Syndrome ....................636

Menkes Disease (Kinky-Hair Syndrome) ........639

Metachromatic Leukodystrophy ...............646

Miller-Dieker Syndrome .....................650

Mobius Syndrome ..........................655

Mucolipidosis II (I-Cell Disease)...............660

Mucolipidosis III (Pseudo-Hurler Polydystrophy) . 664

Mucopolysaccharidosis I (MPS I)

(a-L-Iduronidase Deficiency): Hurler

(MPS I-H), Hurler-Scheie (MPS I-H/S),

and Scheie (MPS I-S) Syndromes............669

Mucopolysaccharidosis II (Hunter Syndrome) .... 678 Mucopolysaccharidosis III (Sanfilippo Syndrome) . 682 Mucopolysaccharidosis IV (Morquio Syndrome) . . 687 Mucopolysaccharidosis VI (Maroteaux-Lamy

Syndrome) ..............................692

Multiple Epiphyseal Dysplasia ................697

Multiple Pterygium Syndrome.................702

Myotonic Dystrophy Type 1 ..................708

Netherton Syndrome ........................715

Neu-Laxova Syndrome.......................718

Neural Tubę Defects.........................721

Neurofibromatosis I .........................731

Noonan Syndrome ..........................744

Oblique Facial Cleft Syndrome ................751

Oligohydramnios Sequence...................755

Omphalocele...............................758

Osteogenesis Imperfecta .....................762

Osteopetrosis ..............................773