Infantile Malignant Osteopetrosis Presenting as Bilateral Choanal Atresia: Report of Two Cases

1993 ◽  
Vol 13 (1) ◽  
pp. 81-84 ◽  
Author(s):  
Saleh M. Al-Mofada ◽  
Awad H. Mahdi ◽  
Edathoot Vijaykumar ◽  
Julius B. Familusi
Keyword(s):  
Choanal Atresia ◽  
Malignant Osteopetrosis ◽  
Infantile Malignant Osteopetrosis

scholarly journals Osteopetro-Rickets: A Rare Paradoxical Association in an Infant

2012 ◽  
Vol 32 (1) ◽  
pp. 88-89
Author(s):  
MB Patil
Keyword(s):  
Case Report ◽  
Key Words ◽  
Bone Disease ◽  
Clinical Signs ◽  
Severe Anaemia ◽  
Management Options ◽  
Positive Balance ◽  
Malignant Osteopetrosis ◽  
Infantile Malignant Osteopetrosis ◽  
Key Words Osteopetrosis

Infantile malignant osteopetrosis is a hereditary bone disease with intense positive balance of body calcium. Osteopetro-rickets is a very rare paradoxical association of infantile osteopetrosis and rickets. This is a case report of an infant with osteopetro- rickets. He presented with severe anaemia, splenomegaly, hepatomegaly and clinical signs of rickets. The clinical, biochemical and skeletal survey showed osteopetrosis and rickets. We also describe the pathophysiologic mechanism and various management options. Key words: Osteopetrosis; Osteopetro-rickets; Rickets DOI: http://dx.doi.org/10.3126/jnps.v32i1.5292 J. Nepal Paediatr. Soc. Vol.32(1) 2012 88-89

Lentiviral gene transfer of TCIRG1 into peripheral blood CD34+ cells restores osteoclast function in infantile malignant osteopetrosis

Bone ◽  
2013 ◽  
Vol 57 (1) ◽  
pp. 1-9 ◽  
Author(s):  
Ilana Moscatelli ◽  
Christian Schneider Thudium ◽  
Carmen Flores ◽  
Ansgar Schulz ◽  
Maria Askmyr ◽  
...  
Keyword(s):  
Gene Transfer ◽  
Peripheral Blood ◽  
Peripheral Blood Cd34 ◽  
Cd34 Cells ◽  
Malignant Osteopetrosis ◽  
Osteoclast Function ◽  
Infantile Malignant Osteopetrosis

Novel mutations in theTCIRG1gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis

2003 ◽  
Vol 21 (2) ◽  
pp. 151-157 ◽  
Author(s):  
Jean-Claude Scimeca ◽  
Danielle Quincey ◽  
Hugues Parrinello ◽  
Delphine Romatet ◽  
Josiane Grosgeorge ◽  
...  
Keyword(s):  
Proton Pump ◽  
Novel Mutations ◽  
Malignant Osteopetrosis ◽  
A3 Subunit ◽  
Infantile Malignant Osteopetrosis ◽  
Vacuolar Proton Pump

Bone Marrow Transplantation for Infantile Malignant Osteopetrosis

1995 ◽  
Vol 17 (4) ◽  
pp. 350-355 ◽  
Author(s):  
Hassan Solh ◽  
Antonio Martins Da Cunha ◽  
Neelam Giri ◽  
Andrew Padmos ◽  
David Spence ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Marrow Transplantation ◽  
Malignant Osteopetrosis ◽  
Infantile Malignant Osteopetrosis
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