A Rare Case of Neonatal Hypophosphatasia: A Case Report
Hypophosphatasia is a rare hereditary disorder of bone metabolism.In this article, we presented the case of a male infant with a soft skull and short, deformed limbs at birth, followed by seizures and respiratory distress during admission in the neonatal intensive care unit (NICU).Prenatal ultrasound showed BIOTIN 5000 MCG limb hypoplasia, skull hy