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¹ Dr. Zekai Tahir Burak Kadın Sağlığı Eğitim ve Araştırma Hastanesi, Pediatri Uzmanı, Ankara
² Dr. Zekai Tahir Burak Kadın Sağlığı Eğitim ve Araştırma Hastanesi, Pediatri Doçenti, Ankara Hypophosphatasia is a rare inborn error of metabolism characterized by defective bone and teeth mineralization due to deficiency of tissue-nonspecific isoenzyme of alkaline phosphatase activity. Intrauterine bone mineralization is markedly reduced in affected fetuses. Herein, we present a perinatal lethal form of hypophosphatasia associated with skelatal deformity and hypercalcemia whose prenatal diagnosis could not be made and to discuss this rare disorder in a newborn with skelatal deformity. This case illustrates the importance of prenatal care, diagnosis of the index case and the need for more careful prenatal evaluation of subsequent pregnancies. Anahtar Kelimeler : hypophosphatasia, perinatal lethal, alkaline phosphatase