Infantile Osteopetrosis.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000001108
Abstract: A 5-month-old baby girl presented to our hospital with frontal bossing, splenomegaly, leukocytosis, anemia, and thrombocytopenia. Her neonatal course was complicated by a seizure episode. Workup at that time revealed severe hypocalcemia, low vitamin D… read more here.
Keywords: appearance; bone; infantile osteopetrosis; osteopetrosis ... See more keywords
The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Genetics"
DOI: 10.1111/cge.12804
Abstract: Autosomal recessive malignant infantile osteopetrosis is a congenital disease characterized by pathologically increased bone density. Recently, the use of whole exome sequencing has been utilized as a clinical diagnostic tool in a number of Mendelian… read more here.
Keywords: whole exome; exome sequencing; infantile osteopetrosis; malignant infantile ... See more keywords
Malignant Infantile osteopetrosis.
Sign Up to like & getrecommendations! Published in 2019 at "Revista chilena de pediatria"
DOI: 10.32641/rchped.v90i4.987
Abstract: INTRODUCTION Malignant Infantile Osteopetrosis (MIOP) is a rare and severe genetic disorder due to abnormal osteoclast activity. OBJECTIVE To report an infant who presented Malignant Infantile Osteopetrosis, reviewing the most relevant diagnostic and therapeutic aspects.… read more here.
Keywords: miop; infantile osteopetrosis; malignant infantile; diagnosis ... See more keywords