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Infantile Malignant Osteopetrosis
Autosomal Recessive Lethal Osteopetrosis

Presentation

[…] and therapeutic aspects.Clinical case: A tenmonth-old male infant with diagnosis of MIOP confirmed after presenting thrombocytopenia and visceromegaly. [revistaschilenas.uchile.cl]

Financial Disclosure: Authors state that no economic support has been asso ciated with the present study. Conflicts of Interest: Authors declare no conflict of interest regarding the present study. Bibliografía: 1. [scielo.cl]

The autosomal dominant form is the most common: usually, patients have mild symptoms that present in late childhood to adulthood. [rarediseases.org]

Treatment

The results of treatment with corticosteroids, vitamin D, and calcium or HPCT are disappointing1,2. [scielo.cl]

Other treatments are symptomatic and supportive. Genetic counseling is recommended for families in which this disorder occurs. [rarediseases.org]

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