Malignant infantile osteopetrosis: A rare cause of neonatal hypocalcemia

Kurt A., Sen Y., Elkiran O., Akarsu S., ÇITAK KURT A. N., Aygun A. D.

Journal of Pediatric Endocrinology and Metabolism, cilt.19, sa.12, ss.1459-1462, 2006 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 19 Sayı: 12
  • Basım Tarihi: 2006
  • Doi Numarası: 10.1515/jpem.2006.19.12.1459
  • Dergi Adı: Journal of Pediatric Endocrinology and Metabolism
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1459-1462
  • Anahtar Kelimeler: Hypocalcemia, Malignant infantile osteopetrosis, Neonate
  • Ankara Yıldırım Beyazıt Üniversitesi Adresli: Evet

Özet

Malignant infantile osteopetrosis is a rare autosomal recessive disorder characterized by presentation in the first few months of life with manifestations relating to an underlying defect in osteoclastic bone resorption. This report describes a 10 day-old boy in whom neonatal hypocalcemia was present and whose brother had died with the diagnosis of osteopetrosis. © Freund Publishing House Ltd., London.