دانلود کتاب علائم و نشانه های اختلالات ژنتیکی
Signs and Symptoms of Genetic Conditions, 1ed

Connecting an abnormal physical exam to a possible genetic condition is a daunting and inexact task for any physician, be they a primary care provider, non-geneticist specialist, or fellowship-trained geneticist.

Comprising 31 clinical protocols from the world’s foremost clinical geneticists, Signs and Symptoms of Genetic Conditions provides a practical manual for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms. Each chapter examines a specific clinical finding and leads the user through a step-by-step approach to a differential diagnosis.

To maximize clinical utility, this handbook features:

· Prominent flow chart diagrams that graphically depict the diagnostic approach
· Concise recommendations for laboratory and/or imaging studies
· Health supervision and management strategies for the most common conditions associated with each presenting sign or symptom

Whether for the student, resident, or seasoned clinician, Signs and Symptoms of Genetic Conditions will serve as a frontline resource for navigating differential diagnosis.

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Contents

۱ Genetic Testing
۲ Short Stature
۳ Obesity
۴ Overgrowth Syndromes
۵ Asymmetry
۶ Microcephaly
۷ Macrocephaly
۸ Alterations in Cranial Shape
۹ Brain Malformations
۱۰ Intellectual Disability
۱۱ Autism Spectrum Disorders
۱۲ Hypotonia
۱۳ Weakness
۱۴ Ataxia
۱۵ Seizures
۱۶ Metabolic Acidosis
۱۷ Hypoglycemia
۱۸ Hyperammonemia
۱۹ Hepatosplenomegaly
۲۰ Hearing Loss
۲۱ Malformations of the External Ear
۲۲ Anomalies of the Eye
۲۳ Facial Getting
۲۴ Congenital Heart Defects
۲۵ Genetics of Renal Malformations
۲۶ Limb Anomalies
۲۷ Congenital Contractures: Emphasizing Multiple Congenital Contractures— Arthrogryposis
۲۸ Disorders of Sexual Development
۲۹ Alterations in Skin Pigmentation
۳۰ Skin Malformations
۳۱ Spontaneous Abortion and Intrauterine Fetal Death