Endocrine Abstracts

Introduction: A 22q11.2 deletion syndrome (velocardiofacial syndrome) is an autosomal dominant disorder affects various organs including the parathyroid gland. Because of its incomplete penetrance, multi-system affectation, and variable clinical presentation, the diagnosis is often delayed or never made. Delayed diagnosis may have significant impact on morbidity and mortality. We present a patient with a long history of clinical features of a syndrome which was diagnosed after...