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  2. Hypoparathyroidism-retardation-dysmorphism syndrome

Hypoparathyroidism-retardation-dysmorphism syndrome

Definition:

Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome is an autosomal recessively inherited condition reported in patients of Middle Eastern origin. It is characterized by permanent congenital hypocalcemia associated with hypoparathyroidism, prenatal and postnatal growth retardation, seizures, and facial anomalies. The dysmorphic features include deep-set eyes, depressed nasal bridge, thin upper lip, and ear anomalies.

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