Fragile X Syndrome in Practice: An Advanced Approach to Dysmorphology: DE - Softcover

Inhaltsangabe

Fragile X syndrome is one of the most common inherited causes of mental retardation and a leading genetic contributor to autism disorders. Despite advances in molecular diagnostics, many regions still face limited access to genetic testing, making clinical recognition essential. This book presents an advanced, practical approach to clinical dysmorphology, focusing on the accurate bedside diagnosis of Fragile X syndrome through careful observation of physical and behavioral features. Drawing on real patient cases, it explores the spectrum of presentation from severe autism to milder cognitive and speech impairments while highlighting the key craniofacial characteristics that guide diagnosis.

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