Molecular Diagnosis of Dysmorphic Syndromes and Inherited Metabolic Disorders in Thailand

VORASUK SHOTELERSUK, MD*

Affiliation : * Department of Pediatrics, Faculty of Medicine, Chulalongkom University, Bangkok 10330, Thailand.

AbstractWhile dysmorphic syndromes and inherited metabolic disorders are individually rare, they collectively account for a significant proportion of illnesses, especially in children. They present clini cally in a wide variety of ways, involving virtually any organ or tissue of the body making them rela tively difficult to diagnose. However, reaching an accurate diagnosis for children with dysmorphic features and suspected inherited metabolic disorders is important to them and their families both for treatment and for the prevention of disease in other family members. It also makes all the accumulated knowledge available about the relevant condition.
Molecular techniques have kindled a revolution in the diagnosis of genetic disorders, including dysmorphic syndromes and inherited metabolic disorders. Molecular methods essentially avoid pro blems of other techniques. This review exemplifies some of the diseases that can be diagnosed by molecular tools available in Thailand and illustrates some of their benefits.

Keywords : Molecular Diagnosis, Dysmorphic Syndromes, Inherited Metabolic Disorders

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