Mucopolysaccharidosis I (MPS I) (a-L-Iduronidase Deficiency): Hurler (MPS I-H), Hurler-Scheie (MPS I-H/S), and Scheie (MPS I-S) Syndromes
Mucopolysaccharidosis II (Hunter Syndrome)
Mucopolysaccharidosis III (Sanfilippo Syndrome)
Mucopolysaccharidosis IV (Morquio Syndrome)
Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)
Multiple Epiphyseal Dysplasia
Multiple Pterygium Syndrome
Myotonic Dystrophy Type 1
Netherton Syndrome
Neu-Laxova Syndrome
Neural Tube Defects
Neurofibromatosis I
Noonan Syndrome
Oblique Facial Cleft Syndrome
Oligohydramnios Sequence
Omphalocele
Osteogenesis Imperfecta
Osteopetrosis
Pachyonychia Congenita
Pallister-Killian Syndrome
Phenylketonuria (PKU)
Pierre Robin Sequence
Polycystic Kidney Disease, Autosomal Dominant Type
Polycystic Kidney Disease, Autosomal Recessive Type
Prader-Willi Syndrome
Progeria
Prune Belly Syndrome
Pseudoachondroplasia
R(18) Syndrome
Retinoid Embryopathy
Rett Syndrome
Rickets
Roberts Syndrome
Robinow Syndrome
Rubinstein-Taybi Syndrome
Schizencephaly
Schmid Metaphyseal Chondrodysplasia
Seckel Syndrome
Severe Combined Immune Deficiency
Short Rib Polydactyly Syndromes
Sickle Cell Disease
Silver-Russell Syndrome
Sirenomelia
Smith-Lemli-Opitz Syndrome
Smith-Magenis Syndrome
Sotos Syndrome
Spinal Muscular Atrophy
Spondyloepiphyseal Dysplasia
Stickler Syndrome
Sturge-Weber Syndrome
Tay-Sachs Disease
Tetrasomy 9p Syndrome
Thalassemia
Thanatophoric Dysplasia
Thrombocytopenia-Absent Radius Syndrome
Treacher-Collins Syndrome
Trimethylaminuria
Triploidy
Trismus Pseudocamptodactyly Syndrome
Trisomy 13 Syndrome
Trisomy 18 Syndrome
Tuberous Sclerosis
Turner Syndrome
Twin–Twin Transfusion Syndrome
Ulnar-Mammary Syndrome
VATER (VACTERL) Association
Von Hippel-Lindau Disease
Waardenburg Syndrome
Williams Syndrome
Wolf-Hirschhorn Syndrome
X-Linked Ichthyosis
XXX Syndrome
XXXXX Syndrome
XXXXY Syndrome
XY Female
XYY Syndrome
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. Also available in a CD-ROM edition
