Spitz_Genodermatoses, 3e

CHAPTER 11 Disorders of Metabolism Clinical Pearls by Kurt Hirschhorn, MD (KH),

CHAPTER 13 Disorders With Short Stature Clinical Pearls by Kurt Hirschhorn, MD (KH) Judith Willner, MD (JW), and Jennifer L. Hand, MD (JH) Cornelia de Lange Syndrome....................................396 Rubinstein-Taybi Syndrome......................................398 Russell-Silver Syndrome..............................................400 Familial Dysautonomia................................................402 Figure Credits......................................................407 Index....................................................................... 411

Judith Willner, MD (JW), and Jennifer L. Hand, MD (JH) Alkaptonuria....................................................................340 Fabry Disease...................................................................342 Gaucher Disease.............................................................346 Niemann-Pick Disease..................................................350 Mucopolysaccharidoses..............................................354 Multiple Carboxylase Deficiency..............................358 Phenylketonuria.............................................................360 Wilson Disease................................................................362 Acrodermatitis Enteropathica...................................364 Hemochromatosis.........................................................366 Homocystinuria..............................................................368 Hyperlipoproteinemias................................................370 CHAPTER 12 Disorders With Abnormal Chromosome Number Kishore Vellody, MD (KV), and Jennifer L. Hand, MD (JH) Down Syndrome............................................................380 Turner Syndrome...........................................................384 Noonan Syndrome........................................................388 Klinefelter Syndrome....................................................390 Clinical Pearls by Kurt Hirschhorn, MD (KH), Judith Willner, MD (JW), Jillian F. Rork, MD (JR),

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